Documents in category 'Human Genetics' (omim)

Genetics of disease
score: 15.712488, Current Opinion in Genetics & Development, 1997,

Contents
score: 15.699875, Current Opinion in Genetics & Development, 1995,

Mammalian genetics
score: 14.737679, Current Opinion in Genetics & Development, 1992,

Mammalian gene studies
score: 13.878051, Current Opinion in Biotechnology, 1994,

Mammalian gene studies
score: 12.333154, Current Opinion in Biotechnology, 1992,

Genetics of disease
score: 12.329394, Current Opinion in Genetics & Development, 1996,

Bibliography of the current world literature
score: 11.933074, Current Opinion in Biotechnology, 1990,

Pharmaceutical biotechnology
score: 11.498737, Current Opinion in Biotechnology, 1995,

Genetics of disease
score: 10.200639, Current Opinion in Genetics & Development, 1994,

Ocular genetics: current understanding
score: 8.9023231, Survey of Ophthalmology, 2004, MacDonald, Ian M; Tran, Mai; Musarella, Maria A

Molecular Genetic Approaches to the Study of Human Craniofacial Dysmorphologies
score: 8.600561, International Review of Cytology, 1995, Moore, Gudrun E.

Molecular Genetic Approaches to the Study of Human Craniofacial Dysmorphologies
score: 8.600561, International Review of Cytology, 1995, Moore, Gudrun E.

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
score: 8.524126, Hereditary Cancer in Clinical Practice, 2008, Sijmons, Rolf H

A molecular genetic linkage map of mouse chromosome 2
score: 7.9366696, Genomics, 1990, Siracusa, Linda D. et. al.

FXY2/MID2, a Gene Related to the X-Linked Opitz Syndrome Gene FXY/MID1, Maps to Xq22 and Encodes a FNIII Domain-Containing Protein That Associates with Microtubules
score: 7.8582341, Genomics, 1999, Perry, Jo et. al.

Genetic insights into familial cancers – update and recent discoveries
score: 7.8064333, Cancer Letters, 2002, Marsh, Deborah J; Zori, Roberto T

A G +1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency
score: 7.7983813, Atherosclerosis, 1997, Okubo, Minoru et. al.

Cataract mutations and lens development 1 Dedicated to Prof. Udo H. Ehling on the occasion of his 70th birthday. 1
score: 7.7469777, Progress in Retinal and Eye Research, 1999, Graw, Jochen

The mouse N-acetylgalactosamine-6-sulfate sulfatase ( Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region
score: 7.6420513, BBA - Molecular Basis of Disease, 2000, Montaño, Adriana Maria et. al.

Gene mapping of ocular diseases
score: 7.606167, Survey of Ophthalmology, 1992, Musarella, Maria A.

Genetic Disorders of the Skeleton: A Developmental Approach
score: 7.412293, The American Journal of Human Genetics, 2003, Kornak, Uwe; Mundlos, Stefan

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFβ2 in the pathogenesis of Peters’ anomaly
score: 7.3750354, Genomics, 2003, David, Dezsö et. al.

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux
score: 7.3433546, The Lancet, 1999, Marcil, Michel et. al.

Nucleus and gene expression
score: 7.3164618, Current Opinion in Cell Biology, 1990,

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci
score: 7.2316806, Neuromuscular Disorders, 1997, Romero, Norma Beatriz et. al.

Identification of a novel zinc finger protein gene ( ZNF298) in the GAP2 of human chromosome 21q
score: 7.1835442, Biochemical and Biophysical Research Communications, 2005, Shibuya, Kazunori et. al.

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: An animal model of human Brody disease
score: 7.0203283, Genomics, 2008, Drögemüller, Cord et. al.

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
score: 6.9219566, Proceedings of the National Academy of Sciences of the United States of America, 2010, Abitbol, Marie et. al.

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
score: 6.9166459, Human mutation, 2011, Scharner, Juergen et. al.

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
score: 6.8836689, Clinical endocrinology, 2011, Inoue, Hiroshi et. al.

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
score: 6.8764308, Kidney international, 2005, Magen, Daniella et. al.

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
score: 6.8565151, Proceedings of the National Academy of Sciences of the United States of America, 1997, Gardner, J M et. al.

Molecular cloning and characterization of the human ASB-8 gene encoding a novel member of ankyrin repeat and SOCS box containing protein family
score: 6.8335858, Biochemical and Biophysical Research Communications, 2003, Liu, Yongzhong et. al.

Familial cancer syndromes and clusters
score: 6.8214225, Current Problems in Cancer, 1990, Li, Frederick P.

Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
score: 6.8112831, Neuron, 2006, Lee, Jennifer A.; Lupski, James R.

A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.
score: 6.8095602, Human mutation, 1998, Wolf, M et. al.

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
score: 6.8058273, Nature medicine, 2004, Araki, Toshiyuki et. al.

Autosomal recessive cerebellar ataxias
score: 6.7479696, Orphanet Journal of Rare Diseases, 2006, Palau, Francesc; Espinós, Carmen

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant☆
score: 6.742917, Genomics, 2003, Ferrante, Maria I et. al.

The molecular basis of human retinal and vitreoretinal diseases
score: 6.7318844, Progress in Retinal and Eye Research, 2010, Berger, Wolfgang et. al.

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain
score: 6.724667, The American Journal of Human Genetics, 1998, Gaudenz, Karin et. al.

Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
score: 6.7105924, The American Journal of Human Genetics, 2001, Wilkie, Susan E. et. al.

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue
score: 6.6847964, Gene, 2000, Pasteris, N.German et. al.

Isolation and characterization of IPP, a novel human gene encoding an actin-binding, kelch-like protein
score: 6.6409037, Gene, 1999, Kim, Irene F.; Mohammadi, Elham; Huang, Ru Chih C.

An X-to-autosome retrogene is required for spermatogenesis in mice.
score: 6.6400523, Nature genetics, 2004, Bradley, Julie et. al.

Pharmaceutical biotechnology
score: 6.623353, Current Opinion in Biotechnology, 1997,

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
score: 6.6152193, Clinical genetics, 2000, Boyadjiev, S A; Jabs, E W

Identification of BPESC1, a Novel Gene Disrupted by a Balanced Chromosomal Translocation, t(3;4)(q23;p15.2), in a Patient with BPES
score: 6.613781, Genomics, 2000, De Baere, Elfride et. al.

Cell regulation
score: 6.5758014, Current Opinion in Cell Biology, 1996,

Nucleus and gene expression
score: 6.5574558, Current Opinion in Cell Biology, 1996,

Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia.
score: 6.5360941, Cancer research, 2000, Lee, D W et. al.

Genomic analysis of a mouse zinc finger gene, Zfp-35, that is up-regulated during spermatogenesis
score: 6.5301665, Genomics, 1990, Cunliffe, Vincent; Williams, Sarah; Trowsdale, John

Red Blood Cell Enzymes and their Clinical Application
score: 6.5220681, Advances in Clinical Chemistry, 1998, Fujii, Hisaichi; Miwa, Shiro

Cloning of p97/Gab2, the Major SHP2-Binding Protein in Hematopoietic Cells, Reveals a Novel Pathway for Cytokine-Induced Gene Activation
score: 6.5038324, Molecular Cell, 1998, Gu, Haihua et. al.

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
score: 6.4978052, Cell, 1990, Cawthon, Richard M. et. al.

Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.
score: 6.4577822, Proceedings of the National Academy of Sciences of the United States of America, 1991, Nichols, W C et. al.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
score: 6.4528545, BMC Medical Genetics, 2011, Boyden, Steven E et. al.

Identification and Characterization of a Novel Polycystin Family Member, Polycystin-L2, in Mouse and Human: Sequence, Expression, Alternative Splicing, and Chromosomal Localization
score: 6.4470091, Genomics, 2000, Guo, Lei et. al.

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.
score: 6.4245841, Clinical genetics, 1999, Bourbon, M; Fowler, A M; Sun, X M; Soutar, A K

At the Speed of Sound: Gene Discovery in the Auditory System
score: 6.4142254, The American Journal of Human Genetics, 2001, Resendes, Barbara L. et. al.

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
score: 6.40557, Neuroscience, 2007, Kleppa, L.; Kanavin, Ø.J.; Klungland, A.; Strømme, P.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
score: 6.4039479, Molecular Vision, 2008, Ramprasad, Vedam Lakshmi et. al.

A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?
score: 6.3942313, Human molecular genetics, 1995, Tee, M K et. al.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
score: 6.3637876, Journal of human genetics, 2011, Ouechtati, Farah et. al.

Genomes and evolution
score: 6.3620092, Current Opinion in Genetics & Development, 1994,

TLP1: A Gene Encoding a Protein Component of Mammalian Telomerase Is a Novel Member of WD Repeats Family
score: 6.3473077, Cell, 1997, Nakayama, Jun-ichi et. al.

Hereditary red cell enzymopathies
score: 6.3449918, Blood Reviews, 1995, Arya, R.; Layton, D.M.; Bellingham, A.J.

Skeletal dysplasia and male infertility locus on mouse chromosome 9
score: 6.3246175, Genomics, 2004, Cha, K.B. et. al.

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
score: 6.307966, Cell, 1993, Hodgkinson, Colin A. et. al.

Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene
score: 6.2998855, Cell, 1990, Rose, Elise A. et. al.

Evidence That Mutations in the X-linked DDP Gene Cause Incompletely Penetrant and Variable Skewed X Inactivation
score: 6.2958622, The American Journal of Human Genetics, 1999, Plenge, Robert M. et. al.

Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors.
score: 6.294321, Cancer research, 1997, Rasio, D et. al.

Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes
score: 6.2842301, The American Journal of Human Genetics, 1997, Hasstedt, Sandra J. et. al.

Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c- kit tyrosine kinase receptor
score: 6.2835715, Cell, 1990, Zsebo, Krisztina M. et. al.

Molecular genetics of human retinal dystrophies.
score: 6.2822446, Eye (London, England), 1998, Inglehearn, C F

Cysteine and tyrosine-rich 1 ( CYYR1), a novel unpredicted gene on human chromosome 21 (21q21.2), encodes a cysteine and tyrosine-rich protein and defines a new family of highly conserved vertebrate-specific genes
score: 6.2746494, Gene, 2002, Vitale, Lorenza et. al.

The genetics of familial leukemia.
score: 6.247847, Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 1997, Horwitz, M

Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily
score: 6.2284384, Gene, 2001, Li, Quan-Zhen et. al.

2000 author index - volumes 24 - 26
score: 6.2281387, Nature genetics, 2000,

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
score: 6.2200593, Proceedings of the National Academy of Sciences of the United States of America, 2011, Pierce, Sarah B et. al.

Identification of Ubiquilin, a Novel Presenilin Interactor That Increases Presenilin Protein Accumulation
score: 6.2186826, The Journal of Cell Biology, 2000, Mah, Alex L. et. al.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation
score: 6.2004076, Genomics, 2008, Petukhova, Lynn et. al.

10 Years of Genomics,Chromosome 21, and Down Syndrome
score: 6.1995082, Genomics, 1998, Antonarakis, Stylianos E.

Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific Genes
score: 6.194275, Neuron, 1997, Chen, Shiming et. al.

Somatic gene mutation and human disease other than cancer: An update
score: 6.1884768, Mutation Research-Reviews in Mutation Research, 2010, Erickson, Robert P.

Update on familial cancer syndromes and the skin
score: 6.1804848, Journal of the American Academy of Dermatology, 2000, Tsao, Hensin

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
score: 6.1716206, Clinical endocrinology, 2009, Kelberman, D et. al.

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
score: 6.1666591, European journal of human genetics : EJHG, 2007, White, Dominic R A et. al.

Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems.
score: 6.1665158, Proceedings of the National Academy of Sciences of the United States of America, 1999, Podsypanina, K et. al.

THE MOLECULAR DIAGNOSIS OF METABOLIC MYOPATHIES
score: 6.1508767, Neurologic Clinics, 2000, Vladutiu, Georgirene D.

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
score: 6.1258437, Journal of human genetics, 2010, Honda, Shozo et. al.

Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
score: 6.1242485, Cell, 1998, Wu, Guanqing et. al.

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
score: 6.120853, The American Journal of Human Genetics, 2013, Pasternack, Sandra M. et. al.

Cloning, Genomic Structure, and Expression of Mouse Ring Finger Protein Gene Znf179
score: 6.1163743, Genomics, 1998, Zhao, Qi et. al.

SKCG-1: a new candidate growth regulatory gene at chromosome 11q23.2 in human sporadic Wilms tumours.
score: 6.1137104, British journal of cancer, 2006, Singh, K P; Roy, D

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
score: 6.1121568, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2011, Whyte, Michael P et. al.

Molecular medicine of steroid hormone biosynthesis
score: 6.1000854, Molecular Aspects of Medicine, 1998, Biason-Lauber, Anna

Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.
score: 6.0914584, Clinical genetics, 1999, Jensen, H K et. al.

Disruption of overlapping transcripts in the ROSA beta geo 26 gene trap strain leads to widespread expression of beta-galactosidase in mouse embryos and hematopoietic cells.
score: 6.0860912, Proceedings of the National Academy of Sciences of the United States of America, 1997, Zambrowicz, B P et. al.

Ermap, a gene coding for a novel erythroid specific adhesion/receptor membrane protein
score: 6.0711743, Gene, 2000, Ye, Tie-Zhen et. al.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
score: 6.0642711, The Journal of Allergy and Clinical Immunology, 2009, Engelhardt, Karin R. et. al.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
score: 6.0622651, Molecular Vision, 2008, Neidhardt, John et. al.

Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family
score: 6.0620031, Molecular Brain Research, 2000, Parker, Rachel M.C et. al.

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden
score: 6.0392938, Biochemical and Biophysical Research Communications, 2007, Melin, M. et. al.

Novel Genes Mapping to the Critical Region of the 5q− Syndrome
score: 6.0309353, Genomics, 1997, Boultwood, Jacqueline et. al.

Cloning, expression and subcellular localization of HN1 and HN1L genes, as well as characterization of their orthologs, defining an evolutionarily conserved gene family
score: 6.0285695, Gene, 2004, Zhou, Guangjin et. al.

Characterization and Physical Mapping in Human and Mouse of a Novel RING Finger Gene in Xp22
score: 6.0009979, Genomics, 1998, Van den Veyver, Ignatia B. et. al.

The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins
score: 5.9938693, Genomics, 2004, Baranova, Ancha et. al.

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.
score: 5.9842845, Brain pathology (Zurich, Switzerland), 1997, Koshy, B T; Zoghbi, H Y

Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit ( PHKB)
score: 5.9824169, The American Journal of Human Genetics, 1997, van den Berg, Inge E.T. et. al.

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
score: 5.9797794, Cell, 1990, Yen, Pauline H. et. al.

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
score: 5.9634283, Brain and Development, 1999, Mizugishi, Kiyomi et. al.

Red Blood Cell Enzymes and their Clinical Application
score: 5.9463425, Advances in Clinical Chemistry, 1998, Fujii, Hisaichi; Miwa, Shiro

Defective T-cell activation is associated with augmented transforming growth factor Beta sensitivity in mice with mutations in the Sno gene.
score: 5.9346863, Molecular and cellular biology, 2003, Pearson-White, S; McDuffie, M

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
score: 5.9325808, European journal of human genetics : EJHG, 2011, Laine, C M et. al.

Heredofamilial Brain Calcinosis Syndrome
score: 5.928932, Mayo Clinic Proceedings, 2005, Baba, Yasuhiko et. al.

Heredofamilial Brain Calcinosis Syndrome
score: 5.928932, Mayo Clinic Proceedings, 2005, Baba, Yasuhiko et. al.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
score: 5.9180706, Clinical genetics, 2011, Schilter, K F et. al.

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote
score: 5.9151731, Atherosclerosis, 1996, Langenhoven, Elzet et. al.

Hermansky-Pudlak syndrome and related disorders of organelle formation.
score: 5.9140764, Traffic (Copenhagen, Denmark), 2000, Huizing, M; Anikster, Y; Gahl, W A

The molecular basis of genetic disease
score: 5.9041715, Current Opinion in Biotechnology, 1990, Boehm, Corinne D.; Kazazian, Haig H.

Leber congenital amaurosis: Genes, proteins and disease mechanisms
score: 5.8823307, Progress in Retinal and Eye Research, 2008, den Hollander, Anneke I. et. al.

Cloning and characterization of a novel gene encoding a putative transmembrane protein with altered expression in some human transformed and tumor-derived cell lines.
score: 5.8727551, Oncogene, 1999, Qing, J; Wei, D; Maher, V M; McCormick, J J

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
score: 5.8692245, Cell, 2012, Yang, Yawei J. et. al.

CLIP-115, a Novel Brain-Specific Cytoplasmic Linker Protein, Mediates the Localization of Dendritic Lamellar Bodies
score: 5.867728, Neuron, 1997, De Zeeuw, Chris I et. al.

Chapter 17 Hereditary spastic paraparesis
score: 5.8660173, Handbook of Clinical Neurology, 2007, McDermott, Christopher J.; Shaw, Pamela J.

Comprehensive Analysis of Photoreceptor Gene Expression and the Identification of Candidate Retinal Disease Genes
score: 5.8449602, Cell, 2001, Blackshaw, Seth et. al.

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
score: 5.8383025, Oral diseases, 2001, Watanabe, H et. al.

2000 subject index - volumes 24 - 26
score: 5.8321241, Nature genetics, 2000,

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype
score: 5.8245172, Journal of the Neurological Sciences, 2002, Yoshizawa, Toshihiro et. al.

Nucleus and gene expression
score: 5.8219152, Current Opinion in Cell Biology, 1991,

Mutation analysis of the ROM1 gene in retinitis pigmentosa.
score: 5.8208827, Human molecular genetics, 1995, Bascom, R A et. al.

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
score: 5.8112142, European journal of human genetics : EJHG, 2003, Burwinkel, Barbara et. al.

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
score: 5.8110903, Journal of the American College of Cardiology, 2003, Alcalai, Ronny et. al.

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
score: 5.8110903, Journal of the American College of Cardiology, 2003, Alcalai, Ronny et. al.

Molecular cloning, structural analysis, and expression of a human IRLB, MYC promoter-binding protein: new DENN domain-containing protein family emerges☆
score: 5.8059919, Genomics, 2003, Semova, Natalia et. al.

Mutations in COX7B cause Microphthalmia with linear skin lesions, an unconventional mitochondrial disease
score: 5.7957655, The American Journal of Human Genetics, 2012, Indrieri, Alessia et. al.

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual Disability Syndrome
score: 5.790548, The American Journal of Human Genetics, 2012, Basel-Vanagaite, Lina et. al.

Mutations in the colony stimulating factor 1 receptor ( CSF1R ) cause hereditary diffuse leukoencephalopathy with spheroids
score: 5.7898852, Nature Genetics, 2011, Rademakers, Rosa et. al.

Iron metabolism mutant hbd mice have a deletion in Sec15l1, which has homology to a yeast gene for vesicle docking
score: 5.7852491, Genomics, 2005, White, Robert A. et. al.

Inherited disorders of calcium homeostasis
score: 5.7712721, Clinica Chimica Acta, 2008, Ramasamy, Indra

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families
score: 5.7639626, Journal of human genetics, 2011, Waryah, Ali M. et. al.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
score: 5.7600135, Proceedings of the National Academy of Sciences of the United States of America, 2010, Beggs, Alan H et. al.

Information analysis of human splice site mutations.
score: 5.7585211, Human mutation, 1998, Rogan, P K; Faux, B M; Schneider, T D

A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
score: 5.7568235, Genomics, 1990, Wong, Zilla; Royle, Nicola J.; Jeffreys, Alec J.

Neuromuscular disorders: Gene location
score: 5.7454393, Neuromuscular Disorders, 1996,

Molecular Characterization of WFS1 in Patients with Wolfram Syndrome
score: 5.734706, The Journal of Molecular Diagnostics, 2003, Van Den Ouweland, Johannes M.W. et. al.

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
score: 5.7297105, Molecular Vision, 2010, Goldstein, Orly et. al.

A Novel Retinal Degeneration Locus Identified by Linkage and Comparative Mapping of Canine Early Retinal Degeneration
score: 5.729178, Genomics, 1999, Acland, Gregory M. et. al.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos
score: 5.728544, Molecular Vision, 2011, Orr, Andrew et. al.

Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene.
score: 5.7273648, Proceedings of the National Academy of Sciences of the United States of America, 2001, Xian, J et. al.

Cloning, physical mapping and structural characterization of the human α A-adaptin gene
score: 5.7268544, Gene, 2002, Scorilas, Andreas et. al.

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
score: 5.7180658, The American Journal of Human Genetics, 2012, Indrieri, Alessia et. al.

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
score: 5.7180658, The American Journal of Human Genetics, 2012, Indrieri, Alessia et. al.

Neuromuscular disorders: Gene location
score: 5.711252, Neuromuscular Disorders, 1996,

Molecular cloning of a novel human PAPS synthetase which is differentially expressed in metastatic and non-metastatic colon carcinoma cells
score: 5.6960516, International Journal of Biochemistry and Cell Biology, 1999, Franzon, Vicki L et. al.

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs☆
score: 5.6949397, Genomics, 2003, Luijendijk, M.W.J. et. al.

Global Analysis of ATM Polymorphism Reveals Significant Functional Constraint
score: 5.6837029, The American Journal of Human Genetics, 2001, Thorstenson, Yvonne R. et. al.

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
score: 5.6796784, Human molecular genetics, 1998, Qi, M; Byers, P H

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
score: 5.669801, Human molecular genetics, 2013, Kennerson, Marina L et. al.

The hematopoietic growth factor KL is encoded by the SI locus and is the ligand of the c- kit receptor, the gene product of the W locus
score: 5.6685678, Cell, 1990, Huang, Eric et. al.

SKCG-1 : a new candidate growth regulatory gene at chromosome 11q23.2 in human sporadic Wilms tumours
score: 5.6633931, British Journal of Cancer, 2006, Singh, K P; Roy, D

Differential occurrence of mutations causative of eye diseases in the Chinese population.
score: 5.6617637, Human mutation, 2002, Pang, Chi Pui; Lam, Dennis Shun Chiu

Molecular cloning of mast cell growth factor, a hematopoietin that is active in both membrane bound and soluble forms
score: 5.6615621, Cell, 1990, Anderson, Dirk M. et. al.

A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
score: 5.6613539, British journal of haematology, 1998, Garbarz, M et. al.

Identification and characterization of a novel human cDNA encoding a 21 kDa pRb-associated protein
score: 5.656152, Gene, 2001, Wen, Hong; Ao, Shizhou

Chapter 17 Hereditary spastic paraparesis
score: 5.6521992, Handbook of Clinical Neurology, 2007, McDermott, Christopher J.; Shaw, Pamela J.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
score: 5.6520845, Molecular Vision, 2008, He, Xiang et. al.

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.
score: 5.6520086, Nature genetics, 2003, Botstein, David; Risch, Neil

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
score: 5.6510202, Journal of immunology (Baltimore, Md. : 1950), 2009, Hubert, François-Xavier et. al.

A single gene for human TRAF-3 at chromosome 14q32.3 encodes a variety of mRNA species by alternative polyadenylation, mRNA splicing and transcription initiation
score: 5.6494091, Molecular Immunology, 1998, van Eyndhoven, W.G. et. al.

Characterization of the 13q14 tumor suppressor locus in CLL: identification of ALT1, an alternative splice variant of the LEU2 gene.
score: 5.6415649, Cancer research, 2001, Bullrich, F et. al.

Systematic Evaluation of Genetic Variation at the Androgen Receptor Locus and Risk of Prostate Cancer in a Multiethnic Cohort Study
score: 5.6400612, The American Journal of Human Genetics, 2005, Freedman, Matthew L. et. al.

A High-Resolution Genetic Map of the Familial Mediterranean Fever Candidate Region Allows Identification of Haplotype-Sharing among Ethnic Groups
score: 5.6398187, Genomics, 1997, Balow, James E. et. al.

A panel of irradiation-reduced hybrids selectively retaining human chromosome 11p13: Their structure and use to purify the WAGR gene complex
score: 5.6381236, Genomics, 1990, Glaser, Tom et. al.

Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells
score: 5.6373873, Cell, 1997, Scully, Ralph et. al.

The CEPH consortium linkage map of human chromosome 15q
score: 5.6346932, Genomics, 1992, Bowcock, A.M. et. al.

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations
score: 5.6287349, Molecular Vision, 2008, Zenteno, Juan Carlos et. al.

A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease
score: 5.6189045, Genomics, 2002, Xiong, Huaqi et. al.

GJB2 gene mutations causing familial hereditary deafness in Turkey
score: 5.6111422, International Journal of Pediatric Otorhinolaryngology, 2003, Bayazıt, Yıldırım A et. al.

Gene table of monogenic neuromuscular disorder (nuclear genome only)
score: 5.6083812, Neuromuscular Disorders, 2008,

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual Disability Syndrome
score: 5.6066115, The American Journal of Human Genetics, 2012, Basel-Vanagaite, Lina et. al.

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
score: 5.6066115, The American Journal of Human Genetics, 2012, Basel-Vanagaite, Lina et. al.

The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.
score: 5.6063718, Clinical genetics, 2001, Hanel, M L; Wevrick, R

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
score: 5.5915542, Molecular Vision, 2008, Li, Ningdong et. al.

TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice
score: 5.5892626, Cell, 1993, Luetteke, Noreen C. et. al.

Mapping of the human cone transducin α-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease
score: 5.5884583, Genomics, 1995, Magovcevic, Ivana et. al.

Integrated STS/YAC Physical, Genetic, and Transcript Map of Human Xq21.3 to q23/q24 (DXS1203–DXS1059)
score: 5.5830695, Genomics, 1999, Srivastava, Anand K. et. al.

Integrated STS/YAC Physical, Genetic, and Transcript Map of Human Xq21.3 to q23/q24 (DXS1203–DXS1059)
score: 5.5830695, Genomics, 1999, Srivastava, Anand K. et. al.

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency
score: 5.5826792, Atherosclerosis, 2003, Pisciotta, Livia et. al.

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations
score: 5.5798833, Molecular Genetics and Metabolism, 2006, Charfeddine, C. et. al.

Genomic imprinting in the development and evolution of psychotic spectrum conditions.
score: 5.5765969, Biological reviews of the Cambridge Philosophical Society, 2008, Crespi, Bernard

Crystal structure at 2.2 Å resolution of the pleckstrin homology domain from human dynamin
score: 5.5742563, Cell, 1994, Ferguson, Kathryn M. et. al.

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11
score: 5.5647052, The American Journal of Human Genetics, 1999, Funke, B. et. al.

Bipolar I Disorder and Schizophrenia: A 440–Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios
score: 5.5628589, The American Journal of Human Genetics, 2005, Fallin, M. Daniele et. al.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
score: 5.561055, American journal of medical genetics. Part A, 2010, Furtado, Larissa V et. al.

Characterization of the transmembrane channel-like ( TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis☆
score: 5.5580225, Genomics, 2003, Kurima, Kiyoto et. al.

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
score: 5.5513284, Neuromuscular Disorders, 1999, Tanner, Stephan M et. al.

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
score: 5.546769, Clinica Chimica Acta, 2009, Law, Lap-Kay et. al.

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.
score: 5.5444052, Clinical endocrinology, 2001, Quinton, R et. al.

Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domain
score: 5.5396669, Gene, 2002, Eisenberg, Iris et. al.

Isolation and characterisation of a novel human gene ( C9orf11) on chromosome 9p21, a region frequently deleted in human cancer
score: 5.5383862, BBA - Gene Structure and Expression, 2000, Ruiz, Anna; Pujana, Miguel Angel; Estivill, Xavier

Finding genes involved in human developmental disorders
score: 5.5380934, Current Opinion in Genetics & Development, 1995, Muenke, Maximilian

Cloning and characterization of a novel human zinc finger gene, hKid3, from a C 2H 2-ZNF enriched human embryonic cDNA library
score: 5.5373406, Biochemical and Biophysical Research Communications, 2004, Gao, Li et. al.

Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis.
score: 5.5158992, Nature genetics, 2002, Herron, Bruce J et. al.

A nonsense mutation (E72X) in growth hormone releasing hormone receptor ( GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene
score: 5.5066128, Growth Hormone & IGF Research, 2004, Kamijo, Takashi et. al.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
score: 5.5028631, Clinical & experimental ophthalmology, 2010, Pelcastre, Erika L et. al.

Molecular cloning, genomic structure, and protein characterization of mouse optineurin
score: 5.4983389, Genomics, 2005, Rezaie, Tayebeh; Sarfarazi, Mansoor

Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2).
score: 5.4872961, Cancer research, 2001, Vulevic, B et. al.

Molecular and Cellular Aspects of X-Linked Agammaglobulinemia
score: 5.4872557, Advances in Immunology, 1995, Sideras, Paschalis; Smith, C.I. Edvard

Fine Genetic and Comparative Mapping of the Deafness Mutation Ames waltzer on Mouse Chromosome 10
score: 5.481394, Genomics, 1998, Zobeley, Eva et. al.

Familial Hirschsprung's disease: Report of autosomal dominant and probable recessive X-linked kindreds
score: 5.4788203, Journal of Pediatric Surgery, 1991, Stannard, V.A. et. al.

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing
score: 5.4749607, International Journal of Pediatric Otorhinolaryngology, 2005, Finsterer, Josef; Fellinger, Johannes

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.
score: 5.4723149, Proceedings of the National Academy of Sciences of the United States of America, 1998, Lehman, A L et. al.

Characterization of VIK-1: a new Vav-interacting Kruppel-like protein.
score: 5.4717133, Oncogene, 2005, Houlard, Martin et. al.

Transcription factors in disease
score: 5.4711349, Current Opinion in Genetics & Development, 1996, Engelkamp, Dieter; Heyningen, Veronica van

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
score: 5.4623162, Proceedings of the National Academy of Sciences of the United States of America, 2011, Xin, Baozhong et. al.

Severe HDL deficiency due to novel defects in the ABCA1 transporter.
score: 5.4609886, Journal of internal medicine, 2009, Pisciotta, L et. al.

Ubc9 interacts with a nuclear localization signal and mediates nuclear localization of the paired-like homeobox protein Vsx-1 independent of SUMO-1 modification.
score: 5.4607838, Proceedings of the National Academy of Sciences of the United States of America, 2001, Kurtzman, A L; Schechter, N

Cloning and molecular characterization of a novel gene encoding a WD-repeat protein expressed in restricted areas of adult rat brain
score: 5.4467875, Gene, 2001, Di Benedetto, Angela J et. al.

Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome
score: 5.4414754, Molecular and Cellular Endocrinology, 1997, Katsuya, Tomohiro et. al.

Feline arylsulfatase B (ARSB): Isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1
score: 5.4398716, Genomics, 1992, Jackson, Christine E. et. al.

Hereditary elliptocytosis: spectrin and protein 4.1R
score: 5.4384068, Seminars in Hematology, 2004, Gallagher, Patrick G

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene
score: 5.4381596, Genomics, 1992, Carrozzo, Romeo et. al.

Mutations in GDF5 presenting as semidominant brachydactyly A1.
score: 5.4381465, Human mutation, 2010, Byrnes, Ashley M et. al.

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
score: 5.4317797, Proceedings of the National Academy of Sciences of the United States of America, 1997, Schrank, B et. al.

The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement
score: 5.4307737, European Journal of Medical Genetics, 2008, Bailleul-Forestier, Isabelle et. al.

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bβ-chain gene
score: 5.4285672, BBA - Molecular Basis of Disease, 2003, Spena, Silvia et. al.

Neuromuscular disorders: gene location
score: 5.4262137, Neuromuscular Disorders, 1997,

Molecular and clinical studies of X-linked deafness among Pakistani families.
score: 5.4253669, Journal of human genetics, 2011, Waryah, Ali M et. al.

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
score: 5.4251162, Molecular Genetics and Metabolism, 2002, Wang, Zhiqing et. al.

Wolfram syndrome: a mitochondrial-mediated disorder?
score: 5.4241845, The Lancet, 1993, Bu, X.; Rotter, J.I.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia
score: 5.4241161, Blood Cells, Molecules and Diseases, 2010, Beutler, E. et. al.

Genes for Prader Willi syndrome/angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression
score: 5.4205652, Medical Hypotheses, 1996, Fischer, K.M.

Characterization and chromosomal localization of PTPRO, a novel receptor protein tyrosine phosphatase, expressed in hematopoietic stem cells
score: 5.4195602, Gene, 1997, Avraham, Shalom et. al.

Cytochrome c oxidase deficiency
score: 5.4172923, International Review of Neurobiology, 2002, Comi, Giacomo P. et. al.

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.
score: 5.4164935, Kidney international, 1995, Tsukaguchi, H; Matsubara, H; Inada, M

Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene.
score: 5.4151944, Molecular and cellular biology, 2001, Caruana, G; Bernstein, A

Direct interaction with a nuclear protein and regulation of gene silencing by a variant of the Ca2+-channel beta 4 subunit.
score: 5.4118158, Proceedings of the National Academy of Sciences of the United States of America, 2003, Hibino, H et. al.

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion
score: 5.4116564, Human Mutation, 2006, Vyletal, Petr et. al.

1999 Subject index * Volumes 21 - 23.
score: 5.4090721, Nature genetics, 1999,

Mapping and cloning hereditary deafness genes
score: 5.4085849, Current Opinion in Genetics & Development, 1995, Cremers, Frans PM et. al.

Identification of NAD +-dependent isocitrate dehydrogenase 3 γ-like (IDH3GL) gene and its genetic polymorphisms
score: 5.4068695, Gene, 2003, Okamoto, Koichi et. al.

A novel mutation in the spastin gene in a family with spastic paraplegia
score: 5.406397, Neuroscience Letters, 2002, Morita, Mitsuya et. al.

The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution
score: 5.4034233, Gene, 2001, Smith, Aaron G. et. al.

A 700-kb physical and transcription map of the cervical cancer tumor suppressor gene locus on chromosome 11q13
score: 5.3997404, Genomics, 2005, Zainabadi, Kayvan et. al.

Comparative analysis of the human gimap gene cluster encoding a novel GTPase family
score: 5.3988571, Gene, 2004, Krücken, Jürgen et. al.

Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics
score: 5.3987423, The American Journal of Human Genetics, 2000, Dipple, Katrina M.; McCabe, Edward R.B.

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) associated with congenital insensitivity to pain with anhidrosis
score: 5.3950186, Neuromuscular Disorders, 2008, Huehne, Kathrin et. al.

The male sterility and histoincompatibility ( mshi) mutation in mice is a natural variant of microtubule-associated protein 7 ( Mtap7)
score: 5.3949459, Molecular Genetics and Metabolism, 2009, Magnan, D.R.; Spacek, D.V.; Ye, N.; Lu, Y.-C.; King, T.R.

A phenotype-based screen for embryonic lethal mutations in the mouse.
score: 5.3938077, Proceedings of the National Academy of Sciences of the United States of America, 1998, Kasarskis, A; Manova, K; Anderson, K V

Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
score: 5.3937176, Annals of neurology, 1997, Navon, R et. al.

Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality.
score: 5.3837219, Proceedings of the National Academy of Sciences of the United States of America, 1996, Harbers, K et. al.

Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy
score: 5.3806379, Neuromuscular Disorders, 1998, Naom, I et. al.

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms
score: 5.3801357, Molecular Genetics and Metabolism, 2002, Blasi, Paola et. al.

Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles
score: 5.3788509, Cell, 1990, Copeland, Neal G. et. al.

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene
score: 5.378731, Gene, 1999, Chadwick, Brian P et. al.

An interspecific backcross linkage map of mouse chromosome 8
score: 5.3748054, Genomics, 1990, Ceci, Jeffrey D. et. al.

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
score: 5.3735927, European journal of human genetics : EJHG, 2011, Chograni, Manèl et. al.

α-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations
score: 5.3703016, Journal of the Neurological Sciences, 1996, Duggan, David J. et. al.

Expansion of the BPI family by duplication on human chromosome 20: characterization of the RY gene cluster in 20q11.21 encoding olfactory transporters/antimicrobial-like peptides☆
score: 5.3700073, Genomics, 2003, Andrault, Jean-Baptiste et. al.

Characterization of the mouse Abcc12 gene and its transcript encoding an ATP-binding cassette transporter, an orthologue of human ABCC12
score: 5.3690836, Gene, 2003, Shimizu, Hidetada et. al.

Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.
score: 5.3686067, Clinical endocrinology, 2004, Alba, Maria et. al.

Full Length cDNA Cloning, Promoter Sequence, and Genomic Organization of the Human Adrenoleukodystrophy Related (ALDR) Gene Functionally Redundant to the Gene Responsible for X-Linked Adrenoleukodystrophy
score: 5.3670956, Biochemical and Biophysical Research Communications, 1999, Holzinger, Andreas et. al.

Neuromuscular disorders: gene location
score: 5.3670618, Neuromuscular Disorders, 1997,

A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.
score: 5.3663726, Proceedings of the National Academy of Sciences of the United States of America, 2007, Krebs, Stefan et. al.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
score: 5.3622395, Human mutation, 2010, Nikopoulos, Konstantinos et. al.

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms
score: 5.3603566, Molecular Vision, 2010, Santhiya, Sathiyavedu T. et. al.

Rab27b regulates number and secretion of platelet dense granules.
score: 5.3583516, Proceedings of the National Academy of Sciences of the United States of America, 2007, Tolmachova, Tanya et. al.

Nucleus and gene expression
score: 5.3561614, Current Opinion in Cell Biology, 1995,

Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene
score: 5.356129, The Lancet, 1996, Stewart, P.M et. al.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
score: 5.3554025, BMC Genomics, 2008, Jiang, Yong-hui et. al.

Genetics of epilepsy: current status and perspectives
score: 5.3538859, Neuroscience Research, 2002, Kaneko, Sunao et. al.

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
score: 5.3537279, European journal of human genetics : EJHG, 2006, Vanmolkot, Kaate R J et. al.

Chapter 5 Modeling Ciliopathies
score: 5.3519972, Current Topics in Developmental Biology, 2008, Quinlan, Robyn J.; Tobin, Jonathan L.; Beales, Philip L.

Chapter 5 Modeling Ciliopathies:Primary Cilia in Development and Disease
score: 5.3519972, Current Topics in Developmental Biology, 2008, Quinlan, Robyn J.; Tobin, Jonathan L.; Beales, Philip L.

Closure of a genetic linkage map of human chromosome 7q with centromere and telomere polymorphisms
score: 5.3515549, Genomics, 1992, Helms, Cynthia et. al.

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
score: 5.3511518, Journal of human genetics, 2010, Awano, Hiroyuki et. al.

Parents do matter: genomic imprinting and parental sex effects in neurological disorders
score: 5.3493906, Journal of the Neurological Sciences, 1995, Chatkupt, Sansnee; Antonowicz, Michelle; Johnson, William G.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1 -related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
score: 5.3479316, Orphanet Journal of Rare Diseases, 2011, Grossi, Serena et. al.

Human phosphoribosylformylglycineamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis
score: 5.3473719, Gene, 1999, Patterson, David et. al.

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina
score: 5.3471348, American Journal of Ophthalmology, 2001, Sears, Jonathan E et. al.

Identification of Four Novel Mutations in the COL4A5 Gene of Patients with Alport Syndrome
score: 5.3435436, Genomics, 1993, Lemmink, Henny H. et. al.

Analysis of the RNASEL Gene in Familial and Sporadic Prostate Cancer
score: 5.3427169, The American Journal of Human Genetics, 2002, Wang, Liang et. al.

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11
score: 5.3408248, Molecular Vision, 2007, Kumar, Arun et. al.

Cosmid Contig and Transcriptional Map of Three Regions of Human Chromosome 21q22: Identification of 37 Novel Transcripts by Direct Selection
score: 5.3399083, Genomics, 1997, Guimera, Jordi et. al.

Bibliography of the current world literature
score: 5.3388503, Current Opinion in Neurobiology, 1994,

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism
score: 5.3365603, Molecular and Cellular Endocrinology, 2009, Wang, Qi et. al.

The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.
score: 5.3336505, Proceedings of the National Academy of Sciences of the United States of America, 1995, Epstein, C J

3β-Hydroxysterol Δ 7-reductase and the Smith–Lemli–Opitz syndrome
score: 5.3276316, Molecular Genetics and Metabolism, 2005, Correa-Cerro, Lina S.; Porter, Forbes D.

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 ( ORNT1) gene mutation in a Palestinian family
score: 5.326796, Journal of the Neurological Sciences, 2004, Korman, Stanley H. et. al.

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.
score: 5.3265399, Obesity reviews : an official journal of the International Association for the Study of Obesity, 2002, Iannello, S et. al.

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.
score: 5.3257339, Kidney international, 1993, Zhou, J et. al.

Linkage analysis in X-linked ocular albinism
score: 5.3248, Genomics, 1991, Schnur, Rhonda E. et. al.

Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene.
score: 5.3232691, Proceedings of the National Academy of Sciences of the United States of America, 1997, Durbin, H; Novelli, M R; Bodmer, W F

The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein.
score: 5.3217784, International journal of cancer. Journal international du cancer, 2008, Kido, Tatsuo; Lau, Yun-Fai Chris

Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability
score: 5.3211844, Molecular Immunology, 2009, Aguilar-Ramirez, P. et. al.

Identification of a major keratinocyte cell envelope protein, loricrin
score: 5.3196045, Cell, 1990, Mehrel, Thomas et. al.

The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS
score: 5.3185826, Journal of the Neurological Sciences, 1997, Orrell, Richard W. et. al.

No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes
score: 5.317279, Atherosclerosis, 2004, Damgaard, Dorte et. al.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
score: 5.316232, Molecular Vision, 2011, Audo, Isabelle et. al.

Alternative splicing of the human diacylglycerol kinase zeta gene in muscle.
score: 5.3148198, Proceedings of the National Academy of Sciences of the United States of America, 1997, Ding, L et. al.

Ionizing radiation and genetic risks
score: 5.3140247, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2000, Sankaranarayanan, K.; Chakraborty, R.

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
score: 5.3125999, Atherosclerosis, 2004, Pisciotta, Livia et. al.

A novel type II complement C2 deficiency allele in an African-American family.
score: 5.3123186, Journal of immunology (Baltimore, Md. : 1950), 1998, Zhu, Z B; Atkinson, T P; Volanakis, J E

A splicing variant of a death domain protein that is regulated by a mitogen-activated kinase is a substrate for c-Jun N-terminal kinase in the human central nervous system.
score: 5.3077905, Proceedings of the National Academy of Sciences of the United States of America, 1998, Zhang, Y; Zhou, L; Miller, C A

Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6
score: 5.3045139, Molecular Genetics and Metabolism, 2004, De Lucca, Marisel; Casique, Liliana

Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer.
score: 5.3017011, Cancer research, 1996, Mauillon, J L et. al.

Progress in heritable skin diseases: Molecular bases and clinical implications
score: 5.3016371, Journal of the American Academy of Dermatology, 2002, Pulkkinen, Leena; Ringpfeil, Franziska; Uitto, Jouni

Advances in SMA research: Review of gene deletions
score: 5.3001484, Neuromuscular Disorders, 1996, Morrison, Karen E.

Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand
score: 5.2998889, Journal of Bone and Mineral Research, 2010, Whyte, Michael P et. al.

Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method 1 Nucleotide sequence data reported in this paper together with the additional intron sequences obtained have been submitted to the EMBL, GeneBank and DDBJ data bases, and have been assigned the accession numbers AJ005133–AJ005156. 1
score: 5.2924417, FEBS Letters, 1998, Gaustadnes, Mette et. al.

Beyond Mendel: an evolving view of human genetic disease transmission.
score: 5.2855972, Nature reviews. Genetics, 2002, Badano, Jose L; Katsanis, Nicholas

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
score: 5.2787605, European journal of human genetics : EJHG, 2009, Hantke, Janina et. al.

Ornithine aminotransferase (OAT): Recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus
score: 5.2782762, Genomics, 1990, Ngo, Julielani T. et. al.

Physical Map and Characterization of Transcripts in the Candidate Interval for Familial Chondrocalcinosis at Chromosome 5p15.1
score: 5.2777178, Genomics, 1999, Rojas, K. et. al.

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
score: 5.2775112, Kidney international, 1999, Torra, R et. al.

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.
score: 5.2734929, Proceedings of the National Academy of Sciences of the United States of America, 2003, Zhao, Yun et. al.

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
score: 5.2711681, Pediatric research, 2000, Sato, K et. al.

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
score: 5.2671568, The American Journal of Human Genetics, 2012, Carmignac, Virginie et. al.

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
score: 5.2671568, The American Journal of Human Genetics, 2012, Carmignac, Virginie et. al.

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
score: 5.2661511, Journal of human genetics, 2010, Shapiro, Rivka et. al.

Recent developments in certain X-linked genetic eye disorders
score: 5.2627039, BBA - Molecular Basis of Disease, 1993, Shastry, Barkur S.

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
score: 5.2626863, Journal of human genetics, 2001, Wang, D; Wu, B; Li, Y; Heng, W; Zhong, H; Mu, Y; Wang, J

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
score: 5.2613848, BMC Medical Genetics, 2010, Huang, Yukan et. al.

Mrj encodes a DnaJ-related co-chaperone that is essential for murine placental development.
score: 5.2548474, Development (Cambridge, England), 1999, Hunter, P J et. al.

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p
score: 5.2504927, Genomics, 1991, Vortkamp, A. et. al.

Chapter 13 Long‐Range Gene Control and Genetic Disease
score: 5.2496817, Advances in Genetics, 2008, Kleinjan, Dirk A.; Lettice, Laura A.

Chapter 13 Long‐Range Gene Control and Genetic Disease
score: 5.2496817, Advances in Genetics, 2008, Kleinjan, Dirk A.; Lettice, Laura A.

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia
score: 5.2493086, Gene, 2013, Magnolo, Lucia et. al.

The NEIBank project for ocular genomics: Data-mining gene expression in human and rodent eye tissues
score: 5.2482134, Progress in Retinal and Eye Research, 2006, Wistow, Graeme

Message amplification phenotyping of an inherited δ-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria
score: 5.2476839, Biochemical and Biophysical Research Communications, 1990, Ishida, Nobuhiro et. al.

β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia
score: 5.2471181, The Lancet, 1998, Pocovi, Miguel et. al.

Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21
score: 5.2441425, The American Journal of Human Genetics, 1997, Van Hul, Wim et. al.

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation
score: 5.2419915, Journal of the American Academy of Dermatology, 2007, Molho-Pessach, Vered et. al.

Positional cloning of the murine flavivirus resistance gene.
score: 5.2378287, Proceedings of the National Academy of Sciences of the United States of America, 2002, Perelygin, Andrey A et. al.

Identification and characterization of a novel splice variant of mouse and rat cytochrome b5/cytochrome b5 reductase
score: 5.2327017, Genomics, 2004, Curry, Benjamin J et. al.

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
score: 5.2324061, American Journal of Ophthalmology, 2002, Donoso, Larry A et. al.

An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension.
score: 5.2260808, European journal of human genetics : EJHG, 2006, Omi, Toshinori et. al.

Isolation and characterization of cDNA encoding the 80-kDa subunit protein of the human autoantigen Ku (p70/p80) recognized by autoantibodies from patients with scleroderma-polymyositis overlap syndrome.
score: 5.222777, Proceedings of the National Academy of Sciences of the United States of America, 1990, Mimori, T et. al.

Molecular Cloning and Chromosomal Localization of the Mouse Gpr37 Gene Encoding an Orphan G-Protein-Coupled Peptide Receptor Expressed in Brain and Testis
score: 5.2222394, Genomics, 1998, Marazziti, Daniela et. al.

Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer.
score: 5.2206492, Cancer research, 2000, Lehman, T A et. al.

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly
score: 5.2181397, The American Journal of Human Genetics, 2013, Mohamed, Jawahir Y. et. al.

Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
score: 5.216744, Molecular Vision, 2009, Xi, Quansheng et. al.

Structure and expression of the variant melanin-concentrating hormone genes: only PMCHL1 is transcribed in the developing human brain and encodes a putative protein.
score: 5.2142163, Molecular biology and evolution, 2000, Viale, A et. al.

Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder.
score: 5.2065013, Molecular psychiatry, 2001, Veenstra-VanderWeele, J et. al.

Porcine Parkin: Molecular cloning of PARK2 cDNA, expression analysis, and identification of a splicing variant
score: 5.2052481, Biochemical and Biophysical Research Communications, 2006, Bjerre, Ditte et. al.

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.
score: 5.2004509, Pediatric blood & cancer, 2011, Kaya, Zuhre et. al.

Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
score: 5.1987295, Clinical genetics, 2000, Shin, J A et. al.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family
score: 5.1896854, Molecular Vision, 2010, Liu, Xiaowen et. al.

Molecular and Cellular Aspects of X-Linked Agammaglobulinemia
score: 5.189547, Advances in Immunology, 1995, Sideras, Paschalis; Smith, C.I. Edvard

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree
score: 5.1886786, Clinica Chimica Acta, 2009, Xia, Xin-Yi et. al.

Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.
score: 5.1825296, European journal of human genetics : EJHG, 2007, Min, Josine L et. al.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
score: 5.1810174, Molecular Vision, 2011, Rizel, Leah et. al.

Menin Associates with a Trithorax Family Histone Methyltransferase Complex and with the Hoxc8 Locus
score: 5.1746065, Molecular Cell, 2004, Hughes, Christina M. et. al.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia
score: 5.1724809, Molecular Vision, 2008, Zhou, Jie et. al.

Cloning mammary cell cDNAs from 17q12–q23 using interspecific somatic cell hybrids and subtractive hybridization
score: 5.1721949, Genomics, 1995, Cerosaletti, Karen M.; Shapero, Michael H.; Fournier, R.E.K.

Efficient linkage of 10 loci in the proximal region of the mouse X chromosome
score: 5.1701132, Genomics, 1990, Mullins, Linda J. et. al.

Mutation in TECPR2 reveals a role for Autophagy in Hereditary Spastic Paraparesis
score: 5.1666806, The American Journal of Human Genetics, 2012, Oz-Levi, Danit et. al.

Cytochrome c oxidase deficiency
score: 5.1644588, International Review of Neurobiology, 2002, Comi, Giacomo P. et. al.

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
score: 5.1620132, European journal of human genetics : EJHG, 2008, Laugel, Vincent et. al.

WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.
score: 5.1597564, Molecular and cellular biology, 2005, Kutz, Wendy E; Gong, Yaoqin; Warman, Matthew L

Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
score: 5.1546852, Kidney international, 1998, Yoshida, T et. al.

Identification of a novel RING finger protein as a coregulator in steroid receptor-mediated gene transcription.
score: 5.1542297, Molecular and cellular biology, 1998, Moilanen, A M et. al.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
score: 5.1539817, Human molecular genetics, 2010, Walne, Amanda J et. al.

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
score: 5.1525818, Clinical genetics, 2001, Nowaczyk, M J; Waye, J S

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia
score: 5.1525031, Clinica Chimica Acta, 2009, Najah, Mohamed et. al.

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.
score: 5.1517123, Human mutation, 2011, Esposito, Gabriella et. al.

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
score: 5.149432, Human Mutation, 2010, Thiele, Holger et. al.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy
score: 5.1493176, Journal of Molecular and Cellular Cardiology, 2003, Waldmüller, Stephan et. al.

Neuromuscular disorders: gene location
score: 5.1488952, Neuromuscular Disorders, 1996,

The zinc finger protein NRIF interacts with the neurotrophin receptor p75(NTR) and participates in programmed cell death.
score: 5.1486659, The EMBO journal, 1999, Casademunt, E et. al.

Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?
score: 5.1473364, Oncogene, 2000, Meroni, G et. al.

Novel mutations in the HPS1 gene among Puerto Rican patients.
score: 5.1462929, Clinical genetics, 2011, Carmona-Rivera, C et. al.

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
score: 5.1448392, Proceedings of the National Academy of Sciences of the United States of America, 2010, Azadi, Seifollah; Molday, Laurie L; Molday, Robert S

The search for BRCA1.
score: 5.1434394, Cancer research, 1994, Friedman, L S et. al.

FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia
score: 5.1360103, Atherosclerosis, 2000, Nauck, Markus S. et. al.

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse
score: 5.1358099, BBA - Molecular and Cell Biology of Lipids, 2000, Herman, Gail E

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome
score: 5.132981, The American Journal of Human Genetics, 1998, Wilkin, Douglas J. et. al.

Contributions of ATM mutations to familial breast and ovarian cancer.
score: 5.1319047, Cancer research, 2003, Thorstenson, Yvonne R et. al.

Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia
score: 5.128919, Bone, 2009, Yue, Hua; Zhang, Zhen-Lin; He, Jin-Wei

Definition of the limits of the Wilms tumor locus on human chromosome 11p13
score: 5.1286616, Genomics, 1990, Compton, Duane A. et. al.

Identification and characterization of thymus LIM protein: targeted disruption reduces thymus cellularity.
score: 5.1231097, Molecular and cellular biology, 2001, Kirchner, J; Forbush, K A; Bevan, M J

Studies of the regulation and function of the G sα gene Gnas using gene targeting technology
score: 5.1220488, Pharmacology and Therapeutics, 2007, Weinstein, Lee S.; Xie, Tao; Zhang, Qing-Hong; Chen, Min

Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
score: 5.1204626, Cell, 1997, Cox, Gregory A et. al.

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
score: 5.1179855, Urology, 2005, Bahceci, Mithat et. al.

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit ( PHKG2)
score: 5.1166161, Biochemical and Biophysical Research Communications, 1997, van Beurden, Ellen A.C.M. et. al.

Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.
score: 5.1157248, Cancer research, 1994, Futreal, P A et. al.

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B
score: 5.1155651, Gene, 2002, Bolino, Alessandra et. al.

Candidate lung tumor susceptibility genes identified through whole-genome association analyses in inbred mice.
score: 5.1148503, Nature genetics, 2006, Liu, Pengyuan et. al.

An Essential Cytoskeletal Linker Protein Connecting Actin Microfilaments to Intermediate Filaments
score: 5.1114338, Cell, 1996, Yang, Yanmin et. al.

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
score: 5.111138, Kidney international, 2004, Arrondel, Christelle et. al.

Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia
score: 5.110401, Metabolism, 2007, Chen, Kang et. al.

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
score: 5.1048713, Proceedings of the National Academy of Sciences of the United States of America, 1998, Nichols, K E et. al.

Haplotyping the human T-cell receptor beta-chain gene complex by use of restriction fragment length polymorphisms.
score: 5.1022404, Proceedings of the National Academy of Sciences of the United States of America, 1990, Charmley, P; Chao, A; Concannon, P; Hood, L; Gatti, R A

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene
score: 5.1021421, Neuromuscular Disorders, 2003, Besse, Sylvie et. al.

Mutations of the E1β subunit gene ( PDHB) in four families with pyruvate dehydrogenase deficiency
score: 5.1019747, Molecular Genetics and Metabolism, 2008, Okajima, K. et. al.

Loss of Cdk4 expression causes insulin-deficient diabetes and Cdk4 activation results in beta-islet cell hyperplasia.
score: 5.0974688, Nature genetics, 1999, Rane, S G et. al.

Hereditary optic neuropathies.
score: 5.0974102, Eye (London, England), 2004, Newman, N J; Biousse, V

Next generation sequencing identifies mutations in Atonal homolog 7 ( ATOH7) in families with global eye developmental defects
score: 5.0957223, Human Molecular Genetics, 2011, Khan, Kamron et. al.

A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript.
score: 5.0929819, Proceedings of the National Academy of Sciences of the United States of America, 2011, Onyango, Patrick; Feinberg, Andrew P

DBP, a liver-enriched transcriptional activator, is expressed late in ontogeny and its tissue specificity is determined posttranscriptionally
score: 5.0891782, Cell, 1990, Mueller, Christopher R.; Maire, Pascal; Schibler, Ueli

βIV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier
score: 5.0891427, The Journal of Cell Biology, 2002, Komada, Masayuki; Soriano, Philippe

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal Recessive Nonsyndromic Moderate Hearing Impairment
score: 5.0889288, The American Journal of Human Genetics, 2012, Schraders, Margit et. al.

Founder mutations among the Dutch.
score: 5.0862383, European journal of human genetics : EJHG, 2004, Zeegers, Maurice P A et. al.

Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene 1 1 None of the authors has any proprietary interests in any materials used or data presented in this manuscript.
score: 5.0858207, Ophthalmology, 2003, Vu, Cuong D et. al.

hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.
score: 5.0855999, Proceedings of the National Academy of Sciences of the United States of America, 1996, Acharya, S et. al.

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
score: 5.0806996, The American Journal of Human Genetics, 2012, Kim, Hyung-Goo et. al.

A Dysfunctional Factor X (Factor X San Giovanni Rotondo) Present at Homozygous and Double Heterozygous Level: Identification of a Novel Microdeletion (delC556) and Missense Mutation (Lys 408→Asn) in the Factor X Gene
score: 5.0772292, Thrombosis Research, 2001, Simioni, Paolo et. al.

Sequence of a 131-kb Region of 5q13.1 Containing the Spinal Muscular Atrophy Candidate Genes SMN and NAIP
score: 5.0753341, Genomics, 1998, Chen, Qianfa et. al.

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
score: 5.0733469, The American Journal of Human Genetics, 2012, Garcia-Diaz, Beatriz et. al.

Mutations in medium chain acyl-CoA dehydrogenase deficiency
score: 5.0717399, The Lancet, 1990, Yokota, Ichiro et. al.

Cloning, genomic organization, chromosomal assignment and expression of a novel mosaic serine proteinase: epitheliasin
score: 5.0708876, FEBS Letters, 2000, Jacquinet, Eric et. al.

Large-scale cloning of human chromosome 2-specific yeast artificial chromosomes (YACs) using an interspersed repetitive sequences (IRS)-PCR approach
score: 5.0701563, Genomics, 1995, Liu, Jing et. al.

Characterization of canine rod photoreceptor cGMP-gated cation channel α-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards
score: 5.0657565, Gene, 1997, Veske, Andres; Nilsson, Sven Erik G; Gal, Andreas

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
score: 5.0641884, Clinical endocrinology, 1999, Bassett, J H et. al.

cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components.
score: 5.0639346, Proceedings of the National Academy of Sciences of the United States of America, 1997, Colige, A et. al.

Familial Congenital Hypothyroidism Caused by Abnormal and Bioinactive TSH due to Mutations in the β-Subunit Gene
score: 5.0634336, Trends in Endocrinology & Metabolism, 1997, Medeiros-Neto, Geraldo et. al.

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome
score: 5.063057, Cell, 2010, Huang, Cheng Ran Lisa et. al.

Molecular cloning, genomic structure, and expression analysis of the mouse transcriptional intermediary factor 1 gamma gene
score: 5.0627892, Gene, 2004, Yan, Kai-Ping et. al.

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)
score: 5.0618153, The Journal of Experimental Medicine, 1994,

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
score: 5.0612864, Journal of the Neurological Sciences, 2008, Liao, Shu-sheng et. al.

Cloning and characterization of a cDNA for rat CD30 homolog and chromosomal assignment of the genomic gene
score: 5.0612439, Gene, 1996, Aizawa, Shigemi et. al.

High-Resolution Physical Map of the X-linked Retinoschisis Interval in Xp22
score: 5.0610116, Genomics, 1997, Walpole, Susannah M. et. al.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
score: 5.0568005, The American Journal of Human Genetics, 2012, Carmignac, Virginie et. al.

Failure of Embryonic Hematopoiesis andLethal Hemorrhages in Mouse Embryos Heterozygousfor a Knocked-In Leukemia Gene CBFB–MYH11
score: 5.0560507, Cell, 1996, Castilla, Lucio H et. al.

Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.
score: 5.0549871, Proceedings of the National Academy of Sciences of the United States of America, 2007, De Ferrari, Giancarlo V et. al.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
score: 5.0546265, Journal of the Neurological Sciences, 2008, Liao, Shu-sheng et. al.

The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103
score: 5.0534447, The American Journal of Human Genetics, 1997, Neerman-Arbez, M. et. al.

The DNA binding subunit of NF-κB is identical to factor KBF1 and homologous to the rel oncogene product
score: 5.0516992, Cell, 1990, Kieran, Mark et. al.

Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease
score: 5.0502532, Clinica Chimica Acta, 2010, Bocchi, Letizia et. al.

A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
score: 5.048175, Movement disorders : official journal of the Movement Disorder Society, 2009, Gilbert, Donald L et. al.

FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped.
score: 5.0467139, Proceedings of the National Academy of Sciences of the United States of America, 1999, Tevosian, S G et. al.

Cerebellar Ataxia, Seizures, Premature Death, and Cardiac Abnormalities in Mice with Targeted Disruption of the Cacna2d2 Gene
score: 5.0447066, The American Journal of Pathology, 2004, Ivanov, Sergey V. et. al.

Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata
score: 5.0439047, Gene, 2004, Ferrante, Paola et. al.

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H +-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis
score: 5.0396726, Gene, 2002, Smith, Annabel N.; Borthwick, Katherine J.; Karet, Fiona E.

The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily
score: 5.0390165, Gene, 2002, Mazzocco, Michela et. al.

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
score: 5.037625, Molecular and cellular biology, 2007, Kurth, Ingo et. al.

Gene mutations in retinitis pigmentosa and their clinical implications
score: 5.0363269, Clinica Chimica Acta, 2005, Wang, D.Y. et. al.

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
score: 5.035427, European journal of human genetics : EJHG, 2005, Hichri, Haifa et. al.

Only male matrilineal relatives with Leber’s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation
score: 5.0331209, Biochemical and Biophysical Research Communications, 2005, Qu, Jia et. al.

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation
score: 5.0324421, Molecular Cell, 2010, Kleine-Kohlbrecher, Daniela et. al.

Novel brain 14-3-3 interacting proteins involved in neurodegenerative disease.
score: 5.0318691, The FEBS journal, 2005, Mackie, Shaun; Aitken, Alastair

Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161
score: 5.0314479, Biochemical and Biophysical Research Communications, 2005, Wang, Jun et. al.

Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161
score: 5.0314479, Biochemical and Biophysical Research Communications, 2005, Wang, Jun et. al.

IL-6DBP, a nuclear protein involved in interleukin-6 signal transduction, defines a new family of leucine zipper proteins related to C EBP
score: 5.0299111, Cell, 1990, Poli, Valeria; Mancini, Francesco P.; Cortese, Riccardo

A New Human Hereditary Amyloidosis: The Result of a Stop-Codon Mutation in the Apolipoprotein AII Gene
score: 5.029352, Genomics, 2001, Benson, Merrill D. et. al.

Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region
score: 5.0288891, Genomics, 1992, Shutler, G. et. al.

A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6 kb deletion
score: 5.0269773, Growth Hormone & IGF Research, 2007, Hayashi, Yoshitaka et. al.

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): Variations in the nucleotide sequences of the alleles from three chromosomes
score: 5.0260307, Genomics, 1990, Ala-Kokko, Leena; Prockop, Darwin J.

Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II
score: 5.0258473, The American Journal of Human Genetics, 2002, Huie, Maryann L. et. al.

Cloning and expression of a widely expressed receptor tyrosine phosphatase.
score: 5.0250935, Proceedings of the National Academy of Sciences of the United States of America, 1990, Sap, J; D'Eustachio, P; Givol, D; Schlessinger, J

Human FRAG1 Encodes a Novel Membrane-Spanning Protein That Localizes to Chromosome 11p15.5, a Region of Frequent Loss of Heterozygosity in Cancer
score: 5.0250564, Genomics, 1999, Lorenzi, Matthew V. et. al.

Siva-1 binds to and inhibits BCL-X(L)-mediated protection against UV radiation-induced apoptosis.
score: 5.0222913, Proceedings of the National Academy of Sciences of the United States of America, 2002, Xue, Li et. al.

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
score: 5.0204788, Genomics, 1990, Carey, A.H. et. al.

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis
score: 5.0191251, Molecular Genetics and Metabolism, 2003, Hellerud, Christina et. al.

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
score: 5.0172894, Bone, 2006, Cheung, W.M.W. et. al.

NECC1, a candidate choriocarcinoma suppressor gene that encodes a homeodomain consensus motif ☆ ☆ Sequence data from this article have been deposited with the DDBJ/EMBL/GenBank Data Libraries under Accession No. AB059410.
score: 5.0170089, Genomics, 2003, Asanoma, Kazuo et. al.

Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C
score: 5.0160059, Biochemical and Biophysical Research Communications, 2005, Zhong, Nanbert; Radu, Gabriel; Ju, Weina; Brown, W. Ted

A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.
score: 5.0158117, Proceedings of the National Academy of Sciences of the United States of America, 1990, Pritchard, C; Casher, D; Bull, L; Cox, D R; Myers, R M

An RBCC protein implicated in maintenance of steady-state neuregulin receptor levels.
score: 5.0114153, Proceedings of the National Academy of Sciences of the United States of America, 2002, Diamonti, A John et. al.

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
score: 5.0100873, Human Molecular Genetics, 2011, Soldà, Giulia et. al.

Genetic mapping of meander tail, a mouse mutation affecting cerebellar development
score: 5.008844, Genomics, 1991, Fletcher, Colin; Norman, Deborah J.; Heintz, Nathaniel

A Fas-associated protein factor, FAF1, potentiates Fas-mediated apoptosis.
score: 5.0087485, Proceedings of the National Academy of Sciences of the United States of America, 1995, Chu, K; Niu, X; Williams, L T

Sex determination: lessons from families and embryos.
score: 5.0075446, Clinical genetics, 2001, Ostrer, H

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
score: 5.0066718, Human molecular genetics, 2013, Twigg, Stephen R F et. al.

ABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiation.
score: 5.0047633, The EMBO journal, 2000, Shirihai, O S; Gregory, T; Yu, C; Orkin, S H; Weiss, M J

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
score: 5.0044323, Proceedings of the National Academy of Sciences of the United States of America, 1999, Linari, M et. al.

Genomic Disorders on 22q11
score: 5.0038228, The American Journal of Human Genetics, 2002, McDermid, Heather E.; Morrow, Bernice E.

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
score: 5.0033405, Clinical genetics, 2011, Sasaki, K et. al.

Mouse cathepsin F: cDNA cloning, genomic organization and chromosomal assignment of the gene
score: 5.0029041, Gene, 2000, Deussing, Jan et. al.

Isolation and characterization of the human UGT2B15 gene, localized within a cluster of UGT2B genes and pseudogenes on chromosome 4 1 1 Edited by J. Karn
score: 5.0019126, Journal of Molecular Biology, 2000, Turgeon, David et. al.

Red cell enzymopathies of the glycolytic pathway
score: 5.0010966, Seminars in Hematology, 1990, Tanaka, Kouichi R.; Zerez, Charles R.

Cloning, Characterization, and Chromosome Mapping of RPS6KC1, a Novel Putative Member of the Ribosome Protein S6 Kinase Family, to Chromosome 12q12–q13.1
score: 4.9998282, Genomics, 1999, Zhang, Honglai et. al.

Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium
score: 4.9991777, Genomics, 1992, Keats, Bronya J.B. et. al.

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene
score: 4.9983274, Gene, 2008, Martínez-Muñoz, Cristina et. al.

Activated T cells express a novel gene on chromosome 8 that is closely related to the murine ecotropic retroviral receptor.
score: 4.9982889, Molecular and cellular biology, 1990, MacLeod, C L et. al.

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
score: 4.9973483, American Journal of Ophthalmology, 2003, Koenekoop, Robert K et. al.

Analysis of the human ornithine aminotransferase gene family
score: 4.996268, Experimental Eye Research, 1990, Zintz, Carmelann B.; Inana, George

Genomes and evolution
score: 4.9951799, Current Opinion in Genetics & Development, 1992,

Evidence that a single nucleotide polymorphism in the promoter of the G protein receptor kinase 3 gene is associated with bipolar disorder.
score: 4.9945101, Molecular psychiatry, 2003, Barrett, T B et. al.

Repetin ( Rptn), a New Member of the “Fused Gene” Subgroup within the S100 Gene Family Encoding a Murine Epidermal Differentiation Protein
score: 4.9940303, Genomics, 1997, Krieg, Peter et. al.

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
score: 4.990895, Journal of human genetics, 2010, Johanson, Helene C et. al.

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.
score: 4.9908427, Clinical genetics, 2005, Lucci-Cordisco, E et. al.

Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation.
score: 4.9895136, Nature genetics, 1999, Xu, X et. al.

Molecular cloning and characterization of the von Hippel-Lindau-like protein.
score: 4.9887194, Molecular cancer research : MCR, 2004, Qi, Heng et. al.

Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation
score: 4.9858579, Cell, 1991, Milner, Jo; Medcalf, E.A.

Cloning, Mapping, and Characterization of the Human Sorbin and SH3 Domain Containing 1 (SORBS1) Gene: A Protein Associated with c-Abl during Insulin Signaling in the Hepatoma Cell Line Hep3B
score: 4.9855989, Genomics, 2001, Lin, Wen-Hsing et. al.

Two novel genes, Gpr113, which encodes a family 2 G-protein-coupled receptor, and Trcg1, are selectively expressed in taste receptor cells
score: 4.9849781, Genomics, 2005, LopezJimenez, Nelson D. et. al.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
score: 4.9818654, European journal of human genetics : EJHG, 2009, Mégarbané, André et. al.

The nuclear RhoA exchange factor Net1 interacts with proteins of the Dlg family, affects their localization, and influences their tumor suppressor activity.
score: 4.9818499, Molecular and cellular biology, 2007, García-Mata, Rafael et. al.

A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease
score: 4.981745, BBA - Molecular Basis of Disease, 1998, Jenkins, Mary M. et. al.

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
score: 4.9793649, Molecular Genetics and Metabolism, 2003, Coulter-Mackie, Marion B; Gagnier, Liane

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
score: 4.9792582, Journal of human genetics, 2010, Kokotas, Haris et. al.

cDNA cloning and expression of the peptide-binding β subunit of rat p21 rasfarnesyltransferase, the counterpart of yeast DPR1/RAM1
score: 4.9775426, Cell, 1991, Chen, Wen-Ji et. al.

The Molecular Pathology of Primary Immunodeficiencies
score: 4.9772486, The Journal of Molecular Diagnostics, 2004, Lim, Megan S.; Elenitoba-Johnson, Kojo S.J.

Targeted disruption of the gene for the PAK5 kinase in mice.
score: 4.9757275, Molecular and cellular biology, 2003, Li, Xiaofan; Minden, Audrey

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis
score: 4.9756828, Experimental Eye Research, 2006, Xi, Quansheng et. al.

The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice
score: 4.9737464, Biochemical and Biophysical Research Communications, 2003, Lopes, Carmela et. al.

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype
score: 4.9734891, Biochemical and Biophysical Research Communications, 1998, Huie, M.L. et. al.

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease
score: 4.9725461, Neuromuscular Disorders, 1996, Tsujino, Seiichi et. al.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
score: 4.9720533, European Journal of Medical Genetics, 2008, Zechi-Ceide, Roseli Maria et. al.

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
score: 4.9685969, European journal of human genetics : EJHG, 2009, Da Pozzo, Paola et. al.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
score: 4.9668724, The American Journal of Human Genetics, 2012, Lubs, Herbert A.; Stevenson, Roger E.; Schwartz, Charles E.

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice.
score: 4.964481, Proceedings of the National Academy of Sciences of the United States of America, 2004, Luikenhuis, Sandra et. al.

A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.
score: 4.9642221, Human molecular genetics, 1994, Rogner, U C et. al.

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) associated with hereditary sensory neuropathy type IV
score: 4.9641442, Neuromuscular Disorders, 2006, Verpoorten, Nathalie et. al.

Molecular genetics of disorders of calcium homeostasis
score: 4.9635204, Bailliere's Clinical Endocrinology and Metabolism, 1995, Bassett, J.H.D.; Thakker, Rajesh V.

Reduced X-Ray Resistance and Homologous Recombination Frequencies in a RAD54 −/− Mutant of the Chicken DT40 Cell Line
score: 4.9623886, Cell, 1997, Bezzubova, Olga et. al.

A novel locus for X-linked congenital cataract on Xq24
score: 4.961979, Molecular Vision, 2008, Craig, Jamie E. et. al.

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene
score: 4.9614226, Genomics, 2004, Savas, Sevtap et. al.

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
score: 4.9604073, Nature genetics, 2012, Rademakers, Rosa et. al.

Absence of p53 gene mutations in primary neuroblastomas.
score: 4.9584222, Cancer research, 1993, Vogan, K et. al.

Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32).
score: 4.9580814, Nature genetics, 1999, Zhang, Q et. al.

Hereditary Ataxias
score: 4.9578636, Mayo Clinic Proceedings, 2000, Evidente, Virgilio Gerald H. et. al.

Hereditary Ataxias
score: 4.9578636, Mayo Clinic Proceedings, 2000, Evidente, Virgilio Gerald H. et. al.

U19/Eaf2 binds to and stabilizes von hippel-lindau protein.
score: 4.9564411, Cancer research, 2009, Xiao, Wuhan et. al.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
score: 4.9549147, BMC Medical Genetics, 2004, Ahmed, Zubair M et. al.

OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
score: 4.953824, Annals of human genetics, 2006, Chaki, M et. al.

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
score: 4.9505949, Journal of human genetics, 2010, Honda, Shozo et. al.

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
score: 4.9501359, PLoS ONE, 2013, Kong, Xiao-Fei et. al.

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.
score: 4.9490707, Pediatric research, 1998, Wagner, J K; Eblé, A; Hindmarsh, P C; Mullis, P E

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
score: 4.9466165, Proceedings of the National Academy of Sciences of the United States of America, 2007, Graham, Robert R et. al.

rlk/TXK encodes two forms of a novel cysteine string tyrosine kinase activated by Src family kinases.
score: 4.9461808, Molecular and cellular biology, 1999, Debnath, J et. al.

Murine and human cathepsin Z: cDNA-cloning, characterization of the genes and chromosomal localization
score: 4.9460876, BBA - Gene Structure and Expression, 2000, Deussing, Jan; von Olshausen, Inga; Peters, Christoph

Structure of the gene for porcine peptide antibiotic PR-39, a cathelin gene family member: comparative mapping of the locus for the human peptide antibiotic FALL-39.
score: 4.9456237, Proceedings of the National Academy of Sciences of the United States of America, 1995, Gudmundsson, G H et. al.

Loss of heterozygosity of markers on chromosome 11 in tumors from patients with multiple endocrine neoplasia syndrome type 1.
score: 4.9446629, Cancer research, 1990, Radford, D M; Ashley, S W; Wells, S A; Gerhard, D S

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12
score: 4.942011, Gene, 2003, Friedli, Marc et. al.

Familial (inherited) leukemia, lymphoma, and myeloma: an overview
score: 4.9414637, Blood Cells, Molecules and Diseases, 2004, Segel, George B; Lichtman, Marshall A

Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
score: 4.9405107, The Journal of investigative dermatology, 1999, Wang, X et. al.

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy
score: 4.9379489, Biochemical and Biophysical Research Communications, 2007, Petruzzella, Vittoria et. al.

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.
score: 4.9372968, Kidney international, 1993, Nomura, S; Osawa, G; Sai, T; Harano, T; Harano, K

Hereditary vitreopathy.
score: 4.9367622, Eye (London, England), 1996, Snead, M P

A missense T (Brachyury) mutation contributes to vertebral malformations.
score: 4.9365116, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2008, Ghebranious, Nader et. al.

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat
score: 4.9356902, Genomics, 1990, Lewis, John G. et. al.

Repeated transmission of x-linked ocular albinism type 1 by a carrier oocyte donor
score: 4.9345239, Fertility and Sterility, 1998, Burns, William N et. al.

ZENON, a novel POZ Kruppel-like DNA binding protein associated with differentiation and/or survival of late postmitotic neurons.
score: 4.931514, Molecular and cellular biology, 2005, Kiefer, Hélène et. al.

Identification of a novel amino acid deletion mutation and a very rare single nucleotide variant in a Japanese family with type I antithrombin deficiency
score: 4.931094, Thrombosis Research, 2005, Katayama, Kan et. al.

Waardenburg syndrome.
score: 4.9303421, International journal of dermatology, 1999, Dourmishev, A L et. al.

APRIL/TRDL-1, a tumor necrosis factor-like ligand, stimulates cell death.
score: 4.9302416, Cancer research, 2000, Kelly, K; Manos, E; Jensen, G; Nadauld, L; Jones, D A

Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT.
score: 4.9293591, Cancer research, 2005, Larson, Garry P et. al.

Identification of a novel member of the TGF-beta superfamily highly expressed in human placenta
score: 4.9290072, Gene, 1997, Lawton, Lee N et. al.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
score: 4.9281701, Kidney international, 2002, Longo, Ilaria et. al.

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation
score: 4.9262534, Genomics, 1990, Bućan, M. et. al.

A somatic cell hybrid map of human chromosome 13
score: 4.9247836, Genomics, 1993, Washington, Sarah S. et. al.

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins
score: 4.9242495, BBA - Molecular Cell Research, 2009, Dierks, Thomas et. al.

Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.
score: 4.9223222, Molecular and cellular biology, 2000, Goutebroze, L; Brault, E; Muchardt, C; Camonis, J; Thomas, G

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.
score: 4.9211386, Clinical genetics, 1995, Zielenski, J et. al.

Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia
score: 4.9196899, Gene, 2009, Henriksen, Carina et. al.

The human galactose-1-phosphate uridyltransferase gene
score: 4.9188497, Genomics, 1992, Leslie, Nancy D. et. al.

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
score: 4.9185623, Proceedings of the National Academy of Sciences of the United States of America, 2005, Young, Juan I et. al.

Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.
score: 4.9182141, Proceedings of the National Academy of Sciences of the United States of America, 1992, Hugnot, J P et. al.

Homeobox gene Prx3 expression in rodent brain and extraneural tissues.
score: 4.9178926, Proceedings of the National Academy of Sciences of the United States of America, 1997, van Schaick, H S et. al.

Neuromuscular disorders: gene location
score: 4.9164691, Neuromuscular Disorders, 1997,

Characterization of Novel Promoter and Enhancer Elements of the Mouse Homologue of the Dent Disease Gene, CLCN5, Implicated in X-Linked Hereditary Nephrolithiasis
score: 4.9159926, Genomics, 1999, Tanaka, Karo; Fisher, Simon E.; Craig, Ian W.

Human Acid Ceramidase Gene: Novel Mutations in Farber Disease
score: 4.9158285, Molecular Genetics and Metabolism, 2000, Zhang, Zhongjian et. al.

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
score: 4.9148079, Molecular and Cellular Endocrinology, 2013, Citterio, Cintia E. et. al.

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene
score: 4.9120009, Molecular and Cellular Probes, 2009, Rivolta, Carina M. et. al.

Cloning of a gene (SR-A1), encoding for a new member of the human Ser/Arg-rich family of pre-mRNA splicing factors: overexpression in aggressive ovarian cancer.
score: 4.91183, British journal of cancer, 2001, Scorilas, A; Kyriakopoulou, L; Katsaros, D; Diamandis, E P

Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease
score: 4.9100432, Neuroscience Letters, 2000, Buxbaum, Joseph D et. al.

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
score: 4.9087407, Molecular Vision, 2008, Ali, Manir et. al.

Molecular cloning and characteristics of a novel zinc finger protein and its splice variant whose transcripts are expressed during spermatogenesis
score: 4.9076689, Biochemical and Biophysical Research Communications, 2003, Ishizuka, Masamichi et. al.

The Genetics of Male Infertility
score: 4.9069949, The Journal of Urology, 1996, Mak, Victor; Jarvi, Keith A.

Human thymine-DNA glycosylase maps at chromosome 12q22-q24.1: a region of high loss of heterozygosity in gastric cancer.
score: 4.9069853, Cancer research, 1997, Schmutte, C; Baffa, R; Veronese, L M; Murakumo, Y; Fishel, R

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.
score: 4.9035265, Clinical genetics, 2004, Wattanasirichaigoon, D et. al.

Identification and Characterization of a Novel Gene (C4orf5) Located on Human Chromosome 4q with Specific Expression in Cardiac and Skeletal Muscle
score: 4.9028169, Genomics, 2000, Ahmad, Ferhaan et. al.

Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat
score: 4.9025703, Cell, 1997, Yu, Sui et. al.

The genetics of hair shaft disorders
score: 4.9005695, Journal of the American Academy of Dermatology, 2008, Cheng, Amy S.; Bayliss, Susan J.

Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation
score: 4.8993023, Ophthalmology, 1998, Tyni, Tiina et. al.

Identification of Two Novel Mutations in the CLCN5 Gene in Japanese Patients With Familial Idiopathic Low Molecular Weight Proteinuria (Japanese Dent's Disease)
score: 4.8989712, American Journal of Kidney Diseases, 2001, Takemura, Tsukasa et. al.

The genetic bases for non-syndromic hearing loss among Chinese.
score: 4.8951207, Journal of human genetics, 2009, Ouyang, Xiao Mei et. al.

The X-Linked Mental Retardation Gene SMCX/JARID1C Defines a Family of Histone H3 Lysine 4 Demethylases
score: 4.8948948, Cell, 2007, Iwase, Shigeki et. al.

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
score: 4.8934897, The Lancet, 2000, Franz, Wolfgang-Michael et. al.

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
score: 4.8930543, Mechanisms of Development, 1999, Mikkola, Marja L et. al.

Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality
score: 4.8928378, PLoS ONE, 2011, Dietrich, Paula; Yue, Junming; E., Shuyu; Dragatsis, Ioannis

Gene expression and differentiation
score: 4.8913161, Current Opinion in Genetics & Development, 1992,

Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
score: 4.889681, Cancer research, 2002, Chang, Bao-li et. al.

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
score: 4.8895433, Molecular Genetics and Metabolism, 2002, Cederbaum, Stephen D et. al.

Novel zinc finger gene implicated as myc collaborator by retrovirally accelerated lymphomagenesis in Eμ- myc transgenic mice
score: 4.8893773, Cell, 1991, Haupt, Ygal et. al.

Myelin Gene Regulatory Factor Is a Critical Transcriptional Regulator Required for CNS Myelination
score: 4.8891278, Cell, 2009, Emery, Ben et. al.

Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.
score: 4.8880631, The Journal of investigative dermatology, 2002, Cuevas-Covarrubias, Sergio Alberto et. al.

LDL-receptor mutations in Europe.
score: 4.884738, Human mutation, 2004, Dedoussis, George V Z; Schmidt, Hartmut; Genschel, Janine

Neuromuscular disorders: Gene location
score: 4.8840747, Neuromuscular Disorders, 1996,

Kzf1 – a novel KRAB zinc finger protein encoding gene expressed during rat spermatogenesis
score: 4.8833061, BBA - Gene Structure and Expression, 1998, Bellefroid, Eric J. et. al.

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
score: 4.8828034, The American Journal of Human Genetics, 2012, Schraders, Margit et. al.

Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis.
score: 4.8825981, Proceedings of the National Academy of Sciences of the United States of America, 2003, Su, Tao et. al.

Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5.
score: 4.881288, Proceedings of the National Academy of Sciences of the United States of America, 1994, Nagle, D L; Martin-DeLeon, P; Hough, R B; Bućan, M

X-linked disorders with cerebellar dysgenesis
score: 4.8778552, Orphanet Journal of Rare Diseases, 2011, Zanni, Ginevra; Bertini, Enrico S

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
score: 4.8775939, Journal of Medical Genetics, 2008, Hannes, F D et. al.

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
score: 4.8765327, Journal of neuroscience research, 2001, Surendran, S et. al.

Marfan's syndrome
score: 4.8764165, The Lancet, 2005, Judge, Daniel P; Dietz, Harry C

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
score: 4.8762398, European journal of human genetics : EJHG, 2004, Sjarif, Damayanti R et. al.

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
score: 4.8760231, Kidney international, 2007, Slajpah, M et. al.

Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RARα with a novel putative transcription factor, PML
score: 4.8744585, Cell, 1991, Kakizuka, A. et. al.

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
score: 4.8736738, The Lancet, 2002, Fitze, Guido et. al.

Construction of a 3-Mb Contig and Partial Transcript Map of the Central Region of Mouse Chromosome 11
score: 4.8732335, Genomics, 1997, Watkins-Chow, Dawn E. et. al.

The BRCA2 gene product functionally interacts with p53 and RAD51.
score: 4.8710182, Proceedings of the National Academy of Sciences of the United States of America, 1998, Marmorstein, L Y; Ouchi, T; Aaronson, S A

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
score: 4.8690288, Human mutation, 2011, Pons, Véronique et. al.

Construction of a High-Resolution Physical and Transcription Map of Chromosome 16q24.3: A Region of Frequent Loss of Heterozygosity in Sporadic Breast Cancer
score: 4.8676692, Genomics, 1998, Whitmore, Scott A. et. al.

The AXH Domain of Ataxin-1 Mediates Neurodegeneration through Its Interaction with Gfi-1/Senseless Proteins
score: 4.8642762, Cell, 2005, Tsuda, Hiroshi et. al.

A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1
score: 4.8627239, Molecular Genetics and Metabolism, 2002, Sappal, Baljit S. et. al.

Feline immunodeficiency virus integration in B-cell lymphoma identifies a candidate tumor suppressor gene on human chromosome 15q15.
score: 4.8615897, Cancer research, 2002, Beatty, Julia et. al.

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia
score: 4.8604292, Human Molecular Genetics, 2010, Kahle, Juliette J. et. al.

Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5β
score: 4.8599112, Gene, 2001, Ohhata, Tatsuya et. al.

Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family
score: 4.8595804, Atherosclerosis, 2004, Naoumova, Rossitza P et. al.

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNA Ser(UCN) gene in a Japanese family
score: 4.8595421, Biochemical and Biophysical Research Communications, 2005, Li, Ronghua et. al.

Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
score: 4.8561312, The Journal of investigative dermatology, 2004, Fairclough, Rebecca J et. al.

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
score: 4.8547419, Journal of human genetics, 2011, Hashimoto, Natsuko et. al.

Genetic susceptibility to cancer
score: 4.8538345, Annals of the ICRP, 1998,

Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.
score: 4.8537684, Proceedings of the National Academy of Sciences of the United States of America, 2010, Coffinier, Catherine et. al.

Linkage and association analysis of CACNG3 in childhood absence epilepsy.
score: 4.8535017, European journal of human genetics : EJHG, 2007, Everett, Kate V et. al.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290 -related Phenotypes
score: 4.8506888, Human Mutation, 2010, Coppieters, Frauke et. al.

Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP.
score: 4.848722, Proceedings of the National Academy of Sciences of the United States of America, 2003, Fischer, Thierry et. al.

A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development
score: 4.8469395, Genomics, 2000, Hamshere, Marion et. al.

Compensation by the muscle limits the metabolic consequences of lipodystrophy in PPAR gamma hypomorphic mice.
score: 4.8464002, Proceedings of the National Academy of Sciences of the United States of America, 2003, Koutnikova, Hana et. al.

Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1
score: 4.8454328, The American Journal of Human Genetics, 2007, Beiraghi, Soraya et. al.

The Predisposition to Type 1 Diabetes Linked to the Human Leukocyte Antigen Complex Includes at Least One Non–Class II Gene
score: 4.8450844, The American Journal of Human Genetics, 1999, Lie, Benedicte A. et. al.

A novel human CRYGD mutation in a juvenile autosomal dominant cataract
score: 4.8426363, Molecular Vision, 2010, Roshan, Mascarenhas et. al.

Death Receptor 5, a New Member of the TNFR Family, and DR4 Induce FADD-Dependent Apoptosis and Activate the NF-κB Pathway
score: 4.8424926, Immunity, 1997, Chaudhary, Preet M et. al.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
score: 4.8412859, European journal of human genetics : EJHG, 2007, Hardwick, Simon A et. al.

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism
score: 4.8407265, Molecular Vision, 2010, Renugadevi, Kathirvel et. al.

A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
score: 4.8397935, Clinical genetics, 2006, Clarke, J C et. al.

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family
score: 4.8389321, Biochemical and Biophysical Research Communications, 2005, Zhadanov, Sergey I. et. al.

The role of gene mutations in the genesis of familial cancers.
score: 4.8368648, FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1993, Eng, C; Ponder, B A

Construction of the physical map for three loci in chromosome band 13q14: comparison to the genetic map.
score: 4.8332638, Proceedings of the National Academy of Sciences of the United States of America, 1990, Higgins, M J et. al.

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV
score: 4.8328575, Neuromuscular Disorders, 2006, Verpoorten, Nathalie et. al.

Genomewide Linkage Scan of 409 European-Ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample
score: 4.8326527, The American Journal of Human Genetics, 2006, Suarez, Brian K. et. al.

Identification and characterisation of a novel KCNQ1 mutation in a family with Romano–Ward syndrome
score: 4.8314689, BBA - Molecular Basis of Disease, 2004, Zehelein, J. et. al.

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
score: 4.8303164, American journal of medical genetics. Part A, 2011, Lin, Dar-Shong et. al.

Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.
score: 4.8301683, Proceedings of the National Academy of Sciences of the United States of America, 2010, Suzuki, Masashi et. al.

NIMA-related kinases: isolation and characterization of murine nek3 and nek4 cDNAs, and chromosomal localization of nek1, nek2 and nek3
score: 4.8293567, Gene, 1999, Chen, A; Yanai, A; Arama, E; Kilfin, G; Motro, B

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
score: 4.8285569, The American Journal of Human Genetics, 2012, Oz-Levi, Danit et. al.

Characterization and targeted disruption of murine Nup50, a p27(Kip1)-interacting component of the nuclear pore complex.
score: 4.8278814, Molecular and cellular biology, 2000, Smitherman, M; Lee, K; Swanger, J; Kapur, R; Clurman, B E

Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?
score: 4.827856, Kidney international, 1994, Fick, G M; Johnson, A M; Gabow, P A

Emergence of the ZNF91 Krüppel-associated box-containing zinc finger gene family in the last common ancestor of anthropoidea.
score: 4.8267103, Proceedings of the National Academy of Sciences of the United States of America, 1995, Bellefroid, E J et. al.

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
score: 4.8256795, Human mutation, 2001, Hertz, J M et. al.

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
score: 4.8229986, Molecular Vision, 2008, Villarroel, Camilo E. et. al.

Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant.
score: 4.8225479, Proceedings of the National Academy of Sciences of the United States of America, 2004, Lorenzetti, Diego; Bishop, Colin E; Justice, Monica J

Novel Mutations in the OPA1 Gene and Associated Clinical Features in Japanese Patients with Optic Atrophy
score: 4.8221356, Ophthalmology, 2006, Nakamura, Makoto et. al.

X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP)
score: 4.8192755, Experimental Hematology, 2003, Luthi, Jennifer N; Gandhi, Manish J; Drachman, Jonathan G

Cloning and characterization of the novel chimeric gene TEL/PTPRR in acute myelogenous leukemia with inv(12)(p13q13).
score: 4.8185827, Cancer research, 2005, Nakamura, Fumihiko et. al.

Cloning and expression of a gene encoding an interleukin 3 receptor-like protein: identification of another member of the cytokine receptor gene family.
score: 4.8168515, Proceedings of the National Academy of Sciences of the United States of America, 1990, Gorman, D M et. al.

Metabolic myopathies
score: 4.8164368, Seminars in Pediatric Neurology, 1996, Tein, Ingrid

Mice Lacking p27 Kip1 Display Increased Body Size, Multiple Organ Hyperplasia, Retinal Dysplasia, and Pituitary Tumors
score: 4.8143347, Cell, 1996, Nakayama, Keiko et. al.

Human leukocyte formin: a novel protein expressed in lymphoid malignancies and associated with Akt
score: 4.8134662, Biochemical and Biophysical Research Communications, 2003, Bergamo Favaro, Patricia M et. al.

Molecular cloning and functional characterization of a novel member of the C-C chemokine family.
score: 4.811532, Journal of immunology (Baltimore, Md. : 1950), 1995, Hara, T et. al.

Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells.
score: 4.811025, Proceedings of the National Academy of Sciences of the United States of America, 1999, Chen, F et. al.

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
score: 4.8088908, Molecular Genetics and Metabolism, 2010, Fukao, Toshiyuki et. al.

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
score: 4.8067866, Kidney international, 2003, Zelikovic, Israel et. al.

A Common Variant in the CDKN2B Gene on Chromosome 9p21 Protects Against Coronary Artery Disease in Americans of African Ancestry
score: 4.8062597, Journal of human genetics, 2011, Kral, Brian G. et. al.

A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency
score: 4.8053008, BBA - Molecular Basis of Disease, 2000, Takagi, Atsuko et. al.

Chromosomes and expression mechanisms
score: 4.8051108, Current Opinion in Genetics & Development, 1996,

Praja1, a novel gene encoding a RING-H2 motif in mouse development.
score: 4.8046256, Oncogene, 1997, Mishra, L et. al.

C21orf5, a Novel Human Chromosome 21 Gene, Has a Caenorhabditis elegans Ortholog ( pad-1) Required for Embryonic Patterning
score: 4.8042857, Genomics, 2000, Guipponi, Michel et. al.

Alternative splicing of the APC gene and its association with terminal differentiation.
score: 4.803834, Cancer research, 1997, Santoro, I M; Groden, J

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
score: 4.8036709, Human Molecular Genetics, 2010, Walne, Amanda J. et. al.

A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome
score: 4.8018693, Bailliere's Clinical Endocrinology and Metabolism, 1995, Hardelin, Jean-Pierre; Petit, Christine

Cloning of a gene (SR-A1), encoding for a new member of the human Ser/Arg-rich family of pre-mRNA splicing factors: overexpression in aggressive ovarian cancer
score: 4.8009908, British Journal of Cancer, 2001, Scorilas, A; Kyriakopoulou, L; Katsaros, D; Diamandis, E P

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: New cases of Troyer-like syndrome
score: 4.7996082, European Journal of Paediatric Neurology, 1998, Bertini, E et. al.

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling
score: 4.7993451, Journal of Pediatric Surgery, 2008, Moore, Samuel W.; Zaahl, Monique G.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.
score: 4.7981932, Proceedings of the National Academy of Sciences of the United States of America, 2010, Touzot, Fabien et. al.

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene ( LRP4 )
score: 4.7970015, BMC Genetics, 2007, Drögemüller, Cord et. al.

A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk.
score: 4.7957075, Cancer research, 2005, Narla, Goutham et. al.

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
score: 4.7929794, The American Journal of Human Genetics, 2012, Schrauwen, Isabelle et. al.

Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4
score: 4.7920592, Gene, 2000, Ohhata, Tatsuya et. al.

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
score: 4.7912095, Human mutation, 1992, Park, J K et. al.

Genomic organization of the human α-adducin gene and its alternately spliced isoforms
score: 4.7911104, Genomics, 1995, Lin, Biaoyang et. al.

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
score: 4.7906773, Molecular Genetics and Metabolism, 2003, Lucas, Marsha E et. al.

A Class of Dynamin-like GTPases Involved in the Generation of the Tubular ER Network
score: 4.787716, Cell, 2009, Hu, Junjie et. al.

Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: A new syndrome?
score: 4.7874004, Journal of the American Academy of Dermatology, 1994, Steijlen, Peter M. et. al.

Reduced expression of Tap1 and Lmp2 antigen-processing genes in the nonobese diabetic (NOD) mouse due to a mutation in their shared bidirectional promoter.
score: 4.785768, Journal of immunology (Baltimore, Md. : 1950), 1997, Yan, G; Fu, Y; Faustman, D L

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
score: 4.7842247, Mitochondrion, 2010, Ji, Jack Q. et. al.

Deficiency of a protein-repair enzyme results in the accumulation of altered proteins, retardation of growth, and fatal seizures in mice.
score: 4.7841379, Proceedings of the National Academy of Sciences of the United States of America, 1997, Kim, E; Lowenson, J D; MacLaren, D C; Clarke, S; Young, S G

Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes.
score: 4.7834584, Journal of immunology (Baltimore, Md. : 1950), 1999, Lokki, M L et. al.

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
score: 4.7833676, Brain and Development, 2000, Wibawa, Tri et. al.

Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
score: 4.7831137, Kidney international, 2000, Phakdeekitcharoen, B et. al.

Partial deletions of a sequence family (“DXS278”) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis
score: 4.7805396, Genomics, 1990, Schnur, Rhonda E. et. al.

Forward Signaling Mediated by Ephrin-B3 Prevents Contralateral Corticospinal Axons from Recrossing the Spinal Cord Midline
score: 4.7789522, Neuron, 2001, Yokoyama, Nobuhiko et. al.

Genomic Organization of the 70-kDa Peroxisomal Membrane Protein Gene ( PXMP1)
score: 4.7785233, Genomics, 1998, Gärtner, Jutta et. al.

Transcriptional Map of the 2.5-Mb CBR–ERG Region of Chromosome 21 Involved in Down Syndrome
score: 4.7771467, Genomics, 1998, Dahmane, Nadia et. al.

Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
score: 4.7757007, Experimental Eye Research, 2006, Reiners, Jan et. al.

Molecular cloning, chromosome mapping and characterization of a testis-specific cystatin-like cDNA, cystatin T
score: 4.7747925, Gene, 2000, Shoemaker, Kimberly et. al.

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
score: 4.773229, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2003, Johnson-Pais, Teresa L et. al.

Identification and characterization of an amino acid transporter expressed differentially in liver.
score: 4.7727008, Proceedings of the National Academy of Sciences of the United States of America, 2000, Gu, S; Roderick, H L; Camacho, P; Jiang, J X

The sulfatase gene family: Cross-species PCR cloning using the MOPAC technique
score: 4.7724926, Genomics, 1992, Grompe, Markus et. al.

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes
score: 4.7712779, Journal of the Neurological Sciences, 1996, Kobayashi, Hisashi et. al.

Cell regulation
score: 4.7711382, Current Opinion in Cell Biology, 1995,

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease
score: 4.7705599, The American Journal of Human Genetics, 2003, Gargus, J. Jay

Genetic evidence that Shp-2 tyrosine phosphatase is a signal enhancer of the epidermal growth factor receptor in mammals.
score: 4.7703586, Proceedings of the National Academy of Sciences of the United States of America, 1999, Qu, C K; Yu, W M; Azzarelli, B; Feng, G S

The expanding clinical spectrum of mitochondrial diseases
score: 4.7693894, Brain and Development, 1993, De Vivo, Darryl C.

Structure and analysis of the transducin β3-subunit gene, a candidate for inherited cone degeneration ( cd) in the dog
score: 4.7669305, Gene, 1997, Akhmedov, Novrouz B. et. al.

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
score: 4.7663983, European journal of human genetics : EJHG, 2009, Møller, Daniel Vega et. al.

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.
score: 4.7663123, Journal of immunology (Baltimore, Md. : 1950), 2004, Rosenzweig, Sergio D et. al.

Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes.
score: 4.7653406, Molecular pharmacology, 1994, Kim, K M et. al.

Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy
score: 4.7645046, Ophthalmology, 2010, Yen, May-Yung et. al.

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred
score: 4.7636073, American Journal of Kidney Diseases, 2000, Hateboer, Nick et. al.

Identification and characterization of the human long form of Sox5 ( L-SOX5) gene
score: 4.763259, Gene, 2002, Ikeda, Toshiyuki et. al.

Impaired fertility in mice deficient for the testicular germ-cell protease PC4.
score: 4.762555, Proceedings of the National Academy of Sciences of the United States of America, 1997, Mbikay, M et. al.

Novel mutations in domain I of SCN5A cause Brugada syndrome
score: 4.7581738, Molecular Genetics and Metabolism, 2002, Vatta, Matteo et. al.

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
score: 4.7575578, Annals of human genetics, 2008, Barragán, I et. al.

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
score: 4.7573968, Human mutation, 2000, Prasad, S; Cucci, R A; Green, G E; Smith, R J

Identification of a hereditary pancreatitis mutation in four West Virginia families.
score: 4.7563778, Pediatric research, 1998, Elitsur, Y et. al.

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality
score: 4.75516, The American Journal of Human Genetics, 2008, Fantes, J.A. et. al.

Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels.
score: 4.7549383, Proceedings of the National Academy of Sciences of the United States of America, 1998, Kaupmann, K et. al.

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
score: 4.7535313, European journal of human genetics : EJHG, 2011, Joziasse, Irene C et. al.

Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
score: 4.7522526, Matrix Biology, 2000, Spayde, Erik C. et. al.

MyD88-5 links mitochondria, microtubules, and JNK3 in neurons and regulates neuronal survival
score: 4.7509258, The Journal of Experimental Medicine, 2007, Kim, Younghwa et. al.

Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
score: 4.7508389, Journal of human genetics, 2009, Maimaiti, Mireguli et. al.

Feedback from Rhodopsin controls rhodopsin exclusion in Drosophila photoreceptors
score: 4.7492476, Nature, 2011, Vasiliauskas, Daniel et. al.

MKBP, a Novel Member of the Small Heat Shock Protein Family, Binds and Activates the Myotonic Dystrophy Protein Kinase
score: 4.7487576, The Journal of Cell Biology, 1998, Suzuki, Atsushi et. al.

DIAGNOSIS IN NEUROMUSCULAR DISEASES
score: 4.7470204, Neurologic Clinics, 1996, Younger, David S.; Gordon, Paul H.

Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene
score: 4.7465523, The American Journal of Human Genetics, 2009, Himes, Blanca E. et. al.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
score: 4.7463274, Clinical endocrinology, 2005, Edelheit, Oded et. al.

Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene
score: 4.7461199, Vitamins and Hormones, 2004, Alba, Maria; Salvatori, Roberto

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
score: 4.7451044, International Journal of Pediatric Otorhinolaryngology, 2009, Alemanno, Maria Stella et. al.

Nrdp1/FLRF is a ubiquitin ligase promoting ubiquitination and degradation of the epidermal growth factor receptor family member, ErbB3.
score: 4.7447948, Proceedings of the National Academy of Sciences of the United States of America, 2002, Qiu, Xiao-Bo; Goldberg, Alfred L

Mapping of the mouse 86-kDa heat-shock protein expressed gene ( Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11
score: 4.7424205, Genomics, 1991, Moore, Stephen K. et. al.

Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies
score: 4.7412054, The American Journal of Human Genetics, 2012, Kim, Hyung-Goo et. al.

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
score: 4.740343, Epilepsy Research, 2002, Sander, Thomas et. al.

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
score: 4.7391482, European journal of human genetics : EJHG, 2005, Tajsharghi, Homa et. al.

Repression of TFII-I-dependent transcription by nuclear exclusion.
score: 4.7380347, Proceedings of the National Academy of Sciences of the United States of America, 2001, Tussié-Luna, M I; Bayarsaihan, D; Ruddle, F H; Roy, A L

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
score: 4.7378195, DNA Repair, 2009, Khan, Sikandar G. et. al.

From Down Syndrome to the “Human” in “Human Genetics” * * Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 15, 2001.
score: 4.7377566, The American Journal of Human Genetics, 2002, Epstein, Charles J.

Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients
score: 4.7374076, Growth Hormone & IGF Research, 1999, Kamijo, Takashi et. al.

Bfk: a novel weakly proapoptotic member of the Bcl-2 protein family with a BH3 and a BH2 region.
score: 4.7372777, Cell death and differentiation, 2003, Coultas, L et. al.

A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
score: 4.7327849, Neuron, 2010, Kremeyer, Barbara et. al.

Structure of the gene of tum- transplantation antigen P198: a point mutation generates a new antigenic peptide
score: 4.7325483, The Journal of Experimental Medicine, 1990,

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.
score: 4.7321752, Molecular psychiatry, 2007, Francks, C et. al.

The human Na,K-ATPase α1 gene: Characterization of the 5′-flanking region and identification of a restriction fragment length polymorphism
score: 4.7311164, Genomics, 1990, Shull, Marcia M.; Pugh, Diana G.; Lingrel, Jerry B.

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status
score: 4.7296406, Molecular Genetics and Metabolism, 2004, Korman, Stanley H et. al.

Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain
score: 4.7284898, The Journal of Cell Biology, 1995,

Identification of new drug sensitivity genes using genetic suppressor elements: protein arginine N-methyltransferase mediates cell sensitivity to DNA-damaging agents.
score: 4.7278895, Cancer research, 2003, Gros, Laurent et. al.

Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis
score: 4.727609, Journal of Dermatological Science, 2006, Zuo, Ya-Gang et. al.

A novel G143D mutation in the NADH-cytochrome b 5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia
score: 4.7276056, Blood Cells, Molecules and Diseases, 2008, Kedar, Prabhakar S. et. al.

Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency
score: 4.7274532, BBA - Molecular Basis of Disease, 2004, Albrecht, Christiane et. al.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex
score: 4.7271613, Molecular Vision, 2009, Zenteno, Juan Carlos et. al.

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
score: 4.7258679, Neuromuscular Disorders, 2003, Jungbluth, H et. al.

The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulation.
score: 4.7256893, Experimental dermatology, 2003, Dunnwald, Martine et. al.

A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle
score: 4.7247892, Genomics, 2009, Abbasi, Abdol Rahim et. al.

Three novel mutations of the ornithine aminotransferase ( OAT) gene in gyrate atrophy
score: 4.7241248, Genomics, 1992, Park, James K. et. al.

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.
score: 4.7208512, Journal of human genetics, 2004, Forino, Monica et. al.

Screening for imprinted genes by allelic message display: identification of a paternally expressed gene impact on mouse chromosome 18.
score: 4.7201003, Proceedings of the National Academy of Sciences of the United States of America, 1997, Hagiwara, Y et. al.

Cloning of the p50 DNA binding subunit of NF-κB: Homology to rel and dorsal
score: 4.7187817, Cell, 1990, Ghosh, Sankar et. al.

The genetics of ACTH resistance syndromes
score: 4.717586, Best Practice & Research Clinical Endocrinology & Metabolism, 2006, Metherell, Louise A.; Chan, Li F.; Clark, Adrian J.L.

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
score: 4.7161852, The American Journal of Human Genetics, 2013, McMillin, Margaret J. et. al.

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.
score: 4.7161172, Brain : a journal of neurology, 2000, Stanford, P M et. al.

Cloning of the human phospholipase A2 activating protein ( hPLAP) gene on the chromosome 9p21 melanoma deleted region
score: 4.7160663, Gene, 1999, Ruiz, Anna; Nadal, Marga; Puig, Susana; Estivill, Xavier

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1.
score: 4.7152587, Proceedings of the National Academy of Sciences of the United States of America, 1999, Pereira, L et. al.

Human and murine glycerol kinase: Influence of exon 18 alternative splicing on function
score: 4.7144848, Biochemical and Biophysical Research Communications, 2005, Ohira, Riki H. et. al.

Synergy between LRH-1 and β-Catenin Induces G 1 Cyclin-Mediated Cell Proliferation
score: 4.7135468, Molecular Cell, 2004, Botrugno, Oronza A. et. al.

A Mouse Single-Copy Gene, Gtf2i,the Homolog of Human GTF2I,That Is Duplicated in the Williams–Beuren Syndrome Deletion Region
score: 4.7133738, Genomics, 1998, Wang, Yu-Ker; Pérez-Jurado, Luis A.; Francke, Uta

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
score: 4.7132155, Kidney international, 1995, Hertz, J M; Heiskari, N; Zhou, J; Jensen, U B; Tryggvason, K

Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification
score: 4.7114764, Biochemical and Biophysical Research Communications, 2003, Li, Xiaoming; Guan, Min-Xin

Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse
score: 4.7109861, Brain Research, 2010, Tian, Cong et. al.

Splicing mutations in the COL4A5 gene in Alport's syndrome: Different mRNA expression between leukocytes and fibroblasts
score: 4.7100942, American Journal of Kidney Diseases, 1995, Nakazato, Hitoshi et. al.

The Retinoblastoma Binding Protein RBP2 Is an H3K4 Demethylase
score: 4.7091286, Cell, 2007, Klose, Robert J. et. al.

Structure, alternative splicing, and expression of the human and mouse KCNIP gene family
score: 4.7087593, Genomics, 2005, Pruunsild, Priit; Timmusk, Tõnis

Fine mapping of the multiple sclerosis susceptibility locus on 5p14–p12
score: 4.7085796, Journal of Neuroimmunology, 2005, Riise Stensland, Hilde Monica F. et. al.

The ISWI ATPase Snf2h is required for early mouse development.
score: 4.7079409, Proceedings of the National Academy of Sciences of the United States of America, 2003, Stopka, Tomas; Skoultchi, Arthur I

Genetic changes and histopathological types in colorectal tumors from patients with familial adenomatous polyposis.
score: 4.7062491, Cancer research, 1990, Miyaki, M et. al.

Edd, the murine hyperplastic disc gene, is essential for yolk sac vascularization and chorioallantoic fusion.
score: 4.7056067, Molecular and cellular biology, 2004, Saunders, Darren N et. al.

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
score: 4.7044211, The American Journal of Human Genetics, 2013, Knowles, Michael R. et. al.

Bullous pemphigoid antigens (BPAGs): Identification of RFLPs in human BPAG1 and BPAG2, and exclusion as candidate genes in a large kindred with dominant epidermolysis bullosa simplex
score: 4.7022121, Genomics, 1991, Ryynänen, Markku et. al.

Molecular cloning, mapping and characterization of a novel mouse RING finger gene, Mrf1
score: 4.7001293, Gene, 2002, Chang, Ruying; Xu, Xiaoyuan; Li, Ming D

Renal Na(+)-phosphate cotransporter gene expression in X-linked Hyp and Gy mice.
score: 4.6979153, Kidney international, 1996, Tenenhouse, H S; Beck, L

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26
score: 4.6968791, BMC Medical Genetics, 2008, Lazzaro, Maribeth A et. al.

A Novel Founder Mutation in the RNASEL Gene, 471delAAAG, Is Associated with Prostate Cancer in Ashkenazi Jews
score: 4.6964099, The American Journal of Human Genetics, 2002, Rennert, Hanna et. al.

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
score: 4.6955879, Clinical genetics, 1996, Cenarro, A et. al.

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
score: 4.6953494, The Journal of Cell Biology, 2003, Monani, Umrao R. et. al.

Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).
score: 4.6946312, Proceedings of the National Academy of Sciences of the United States of America, 2002, Sharon, Dror et. al.

Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer.
score: 4.6944531, Oncogene, 2002, Degot, Sébastien et. al.

Specific association of the gene product of PKD2 with the TRPC1 channel.
score: 4.6933985, Proceedings of the National Academy of Sciences of the United States of America, 1999, Tsiokas, L et. al.

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation
score: 4.6933223, Current Biology, 2001, Jun, Lin et. al.

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation
score: 4.6933223, Current Biology, 2001, Jun, Lin et. al.

A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis
score: 4.6932163, Journal of the Neurological Sciences, 1998, Yazaki, Masahide et. al.

Genomic structure and comparison of mouse tissue-specific alkaline phosphatase genes
score: 4.6908166, Genomics, 1990, Manes, Thomas et. al.

Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
score: 4.6907133, Archives of Oral Biology, 2001, Pallos, D. et. al.

A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1
score: 4.6899022, Japanese Journal of Ophthalmology, 2002, Shimizu, Satoko et. al.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
score: 4.6884716, Brain and Development, 2004, Sheen, Volney L et. al.

The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.
score: 4.6883049, Brain pathology (Zurich, Switzerland), 1997, Robitaille, Y et. al.

Familial adenomatous polyposis: Identification of a new frameshift mutation of the APC gene in an Italian family
score: 4.6868949, Biochemical and Biophysical Research Communications, 1992, Stella, Alessandro et. al.

Death-associated protein kinase-related protein 1, a novel serine/threonine kinase involved in apoptosis.
score: 4.6857191, Molecular and cellular biology, 2000, Inbal, B; Shani, G; Cohen, O; Kissil, J L; Kimchi, A

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
score: 4.6846146, Epilepsia, 2003, Doherty, Michael J et. al.

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
score: 4.684357, The American Journal of Human Genetics, 2010, Pang, Junfeng et. al.

A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor.
score: 4.6839247, The European journal of neuroscience, 2003, Wang, Ying et. al.

Mutation p.Arg954Trp of KIF21A Causes Congenital Fibrosis of the Extraocular Muscles in a Chinese Family
score: 4.6835882, Acta Genetica Sinica, 2006, ZHANG, Xian-Qin et. al.

Cloning and characterization of E-dlg, a novel splice variant of mouse homologue of the Drosophila discs large tumor suppressor binds preferentially to SAP102.
score: 4.6829951, IUBMB life, 2008, Mao, Peizhong et. al.

A novel nonreceptor tyrosine kinase, Srm: cloning and targeted disruption.
score: 4.6816332, Molecular and cellular biology, 1994, Kohmura, N et. al.

Two Isoforms of a Human Intersectin (ITSN) Protein Are Produced by Brain-Specific Alternative Splicing in a Stop Codon
score: 4.6784702, Genomics, 1998, Guipponi, Michel et. al.

MXI1, a putative tumor suppressor gene, suppresses growth of human glioblastoma cells.
score: 4.6778547, Cancer research, 1997, Wechsler, D S; Shelly, C A; Petroff, C A; Dang, C V

Curly bare ( cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene ( mcub) on chromosome 5
score: 4.6776661, Genomics, 2003, Johnson, Kenneth R et. al.

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation
score: 4.6776183, Molecular Genetics and Metabolism, 2005, Díaz-Font, Anna et. al.

Phenotypic spectrum of mutations in DAX-1 and SF-1
score: 4.6771116, Molecular and Cellular Endocrinology, 2001, Achermann, John C.; Meeks, Joshua J.; Larry Jameson, J.

A molecular approach to inherited kidney disorders.
score: 4.6755088, Kidney international, 1993, Knebelmann, B; Antignac, C; Gubler, N C; Grünfeld, J P

Functional analysis of mutations in TGIF associated with holoprosencephaly
score: 4.6743354, Molecular Genetics and Metabolism, 2007, El-Jaick, Kenia B. et. al.

Cloning and Mapping of Human Chromosome 6q26–q27 Deleted in B-Cell Non-Hodgkin Lymphoma and Multiple Tumor Types
score: 4.6733534, Genomics, 1998, Hauptschein, Robert S. et. al.

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
score: 4.6718243, Clinical genetics, 1990, Mäenpää, J; Lindahl, E; Aula, P; Savontaus, M L

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
score: 4.6711527, Human molecular genetics, 1998, Del-Favero, J et. al.

SZF1
score: 4.6711304, Experimental Hematology, 1999, Liu, Cheng et. al.

Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4.
score: 4.6699718, Development (Cambridge, England), 2003, Blackshear, Perry J et. al.

Mutations of the gene encoding otogelin (OTOG) are a cause of autosomal recessive nonsyndromic moderate hearing impairment
score: 4.6697782, The American Journal of Human Genetics, 2012, Schraders, Margit et. al.

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
score: 4.6696496, Proceedings of the National Academy of Sciences of the United States of America, 2010, Carvalho, Claudia M B; Zhang, Feng; Lupski, James R

Identification and characterization of Bimgamma, a novel proapoptotic BH3-only splice variant of Bim.
score: 4.6688217, Cancer research, 2002, Liu, Jun-Wei et. al.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
score: 4.6683924, Proceedings of the National Academy of Sciences of the United States of America, 2010, Friedman, James S et. al.

Cloning and characterization of CAP, the S. cerevisiae gene encoding the 70 kd adenylyl cyclase-associated protein
score: 4.6681673, Cell, 1990, Field, J. et. al.

Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11).
score: 4.6676354, Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 2002, Hansen-Hagge, T E et. al.

Binding of human virus oncoproteins to hDlg/SAP97, a mammalian homolog of the Drosophila discs large tumor suppressor protein.
score: 4.6643293, Proceedings of the National Academy of Sciences of the United States of America, 1997, Lee, S S; Weiss, R S; Javier, R T

Characterization, expression pattern and chromosomal localization of the spermatogenesis associated 6 gene (Spata6).
score: 4.6639046, Molecular human reproduction, 2003, Oh, C et. al.

Defective Transcription-Coupled Repair in Cockayne Syndrome B Mice Is Associated with Skin Cancer Predisposition
score: 4.6636975, Cell, 1997, van der Horst, Gijsbertus T.J et. al.

Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues
score: 4.6629443, Biochemical and Biophysical Research Communications, 2010, Nachreiner, T. et. al.

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy
score: 4.6623174, Journal of the American College of Cardiology, 2003, Jongbloed, Roselie J et. al.

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy
score: 4.6623174, Journal of the American College of Cardiology, 2003, Jongbloed, Roselie J et. al.

Loss of the Dystonia-Associated Protein TorsinA Selectively Disrupts the Neuronal Nuclear Envelope
score: 4.6617834, Neuron, 2005, Goodchild, Rose E.; Kim, Connie Eunji; Dauer, William T.

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.
score: 4.6600119, Proceedings of the National Academy of Sciences of the United States of America, 2010, Fröhlich, Leopold F et. al.

A new syndrome of Crohn's disease and pachydermoperiostosis in a family
score: 4.659991, Gastroenterology, 1997, Compton, RF et. al.

Genetic Advances in the Study of Speech and Language Disorders
score: 4.6597704, Neuron, 2010, Newbury, D.F.; Monaco, A.P.

Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas.
score: 4.6593865, Cancer research, 1999, Satake, N; Kobayashi, T; Kobayashi, E; Izumi, K; Hino, O

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
score: 4.6587928, Molecular Genetics and Metabolism, 2002, Bisanzi, S et. al.

Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia
score: 4.6584721, Atherosclerosis, 2009, Cefalù, Angelo B. et. al.

A novel zinc finger gene preferentially expressed in the retina and the organ of Corti localizes to human chromosome 12q24.3
score: 4.658109, BBA - Gene Structure and Expression, 1996, Rivolta, Marcelo N.; Negrini, Clelia; Wilcox, Edward R.

Identification of a novel gene product, RIG, that is down-regulated in human glioblastoma.
score: 4.6580373, Oncogene, 1997, Ligon, A H et. al.

Differentiation and gene regulation
score: 4.6573328, Current Opinion in Genetics & Development, 1996,

Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.
score: 4.6570679, The Journal of investigative dermatology, 2000, Oyama, N; Satoh, M; Iwatsuki, K; Kaneko, F

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
score: 4.6568903, Eye (London, England), 2006, Allen, R C et. al.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
score: 4.6554428, European Journal of Medical Genetics, 2008, Kroes, Hester Y. et. al.

Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland.
score: 4.6550598, Proceedings of the National Academy of Sciences of the United States of America, 2002, Postiglione, M P et. al.

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
score: 4.6545983, Clinical genetics, 2003, Paracchini, R et. al.

PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas.
score: 4.6545269, Cancer research, 1999, Zaphiropoulos, P G et. al.

FRA10B Structure Reveals Common Elements in Repeat Expansion and Chromosomal Fragile Site Genesis
score: 4.6527042, Molecular Cell, 1998, Hewett, Duncan R et. al.

The fragile X syndrome
score: 4.6517737, BBA - Molecular Basis of Disease, 1995, Flannery, Angela V. et. al.

Identification and Characterization of the Miniature Pig Huntington's Disease Gene Homolog: Evidence for Conservation and Polymorphism in the CAG Triplet Repeat
score: 4.6513633, Genomics, 2000, Matsuyama, Noriko et. al.

Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions.
score: 4.6500917, Molecular and cellular biology, 2004, Li, Shanru; Weidenfeld, Joel; Morrisey, Edward E

Association of variations in monoamine oxidases A and B with Parkinson's disease subgroups
score: 4.6497152, Genomics, 2004, Parsian, A et. al.

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
score: 4.6496548, The Journal of Pediatrics, 2006, Wasserstein, Melissa P. et. al.

Sex, strain, and species differences affect recombination across an evolutionarily conserved segment of mouse chromosome 16
score: 4.6494642, Genomics, 1990, Reeves, Roger H. et. al.

Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
score: 4.6493471, Human molecular genetics, 1994, Ali, M; Sebastio, G; Cox, T M

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
score: 4.6486832, Molecular Genetics and Metabolism, 2012, Fasano, Tommaso et. al.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
score: 4.6486832, Molecular Genetics and Metabolism, 2012, Fasano, Tommaso et. al.

Germline mutations of the STK11 gene in Korean Peutz–Jeghers syndrome patients
score: 4.6474731, British Journal of Cancer, 2000, Yoon, K-A et. al.

The Human and Mouse Complement of SH2 Domain Proteins—Establishing the Boundaries of Phosphotyrosine Signaling
score: 4.6470438, Molecular Cell, 2006, Liu, Bernard A. et. al.

An ancient, highly conserved family of cysteine-rich protein domains revealed by cloning type I and type II murine macrophage scavenger receptors.
score: 4.6459497, Proceedings of the National Academy of Sciences of the United States of America, 1990, Freeman, M et. al.

Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression
score: 4.6436085, Journal of the Neurological Sciences, 1998, Verhagen, Wim I.M et. al.

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency.
score: 4.6430752, Journal of immunology (Baltimore, Md. : 1950), 2003, Kralovicova, Jana et. al.

A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen
score: 4.6429836, American Journal of Ophthalmology, 2008, Crespí, Jaume et. al.

Mutations in the growth hormonereleasing hormone receptor: a new form of dwarfism in humans
score: 4.6428168, Growth Hormone & IGF Research, 1999, Baumann, Gerhard

Molecular basis of human complement C1s deficiency.
score: 4.6427926, Journal of immunology (Baltimore, Md. : 1950), 1999, Endo, Y et. al.

A novel recurrent chromosomal inversion implicates the homeobox gene Dlx5 in T-cell lymphomas from Lck-Akt2 transgenic mice.
score: 4.6405995, Cancer research, 2008, Tan, Yinfei et. al.

Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere
score: 4.6397407, The American Journal of Human Genetics, 2000, Warburton, Peter E. et. al.

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
score: 4.6395305, Proceedings of the National Academy of Sciences of the United States of America, 2003, Suzuki, Tamio et. al.

Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1
score: 4.6387462, Gene, 1999, Lee, Simon Ming Yuen et. al.

Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors.
score: 4.6385652, Proceedings of the National Academy of Sciences of the United States of America, 2005, Milne, Thomas A et. al.

Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis.
score: 4.6381225, Cancer research, 1997, Vorechovský, I et. al.

Synaptoporin, a novel putative channel protein of synaptic vesicles
score: 4.6371808, Neuron, 1990, Knaus, Petra et. al.

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
score: 4.6369026, Human mutation, 2011, Kelberman, Daniel et. al.

Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.
score: 4.6360058, Proceedings of the National Academy of Sciences of the United States of America, 2009, Alimohammadi, Mohammad et. al.

Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA) n repeats on human chromosome 21
score: 4.6359407, Genomics, 1992, Kalaitsidaki, Marianna et. al.

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2
score: 4.6354578, Genomics, 2009, Kobayashi, Hisato et. al.

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.
score: 4.632673, Molecular and cellular biology, 2006, Huebner, Angela et. al.

A candidate protein kinase C gene, PKC1, is required for the S. cerevisiae cell cycle
score: 4.6319045, Cell, 1990, Levin, David E. et. al.

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
score: 4.6307814, Molecular Vision, 2008, Sharma, Shiwani et. al.

Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels.
score: 4.6303364, Proceedings of the National Academy of Sciences of the United States of America, 2002, Yang, Jun et. al.

Bibliography of the current world literature
score: 4.6293771, Current Opinion in Genetics & Development, 1995,

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
score: 4.6290861, The American Journal of Human Genetics, 2013, Below, Jennifer E. et. al.

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome
score: 4.6269984, Biomedicine & Pharmacotherapy, 1994, Legouis, R.; ohen-Salmon, M.; Del Castillo, I.; Petit, C.

Gene replacement with the human BRCA1 locus: tissue specific expression and rescue of embryonic lethality in mice.
score: 4.6268834, Oncogene, 2000, Lane, T F; Lin, C; Brown, M A; Solomon, E; Leder, P

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
score: 4.625914, European journal of human genetics : EJHG, 2008, Swalwell, Helen et. al.

GRS, a novel member of the Bcl-2 gene family, is highly expressed in multiple cancer cell lines and in normal leukocytes.
score: 4.6253532, Oncogene, 1997, Kenny, J J et. al.

Kallmann Syndrome and the Link between Olfactory and Reproductive Development
score: 4.6246176, The American Journal of Human Genetics, 1999, Rugarli, Elena I.

Neurofibromatosis type 1 and Ras-mediated signaling: filling in the GAPs
score: 4.6231275, BBA - Reviews on Cancer, 1995, Bernards, André

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb
score: 4.6220327, Genomics, 1993, Banfi, S. et. al.

The VHL protein recruits a novel KRAB-A domain protein to repress HIF-1alpha transcriptional activity.
score: 4.6202045, The EMBO journal, 2003, Li, Zaibo et. al.

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
score: 4.6201485, The American Journal of Human Genetics, 2000, Astuto, Lisa M. et. al.

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
score: 4.618883, Clinical genetics, 1998, Hertz, J M et. al.

X-inactivation and cytogenetic studies in a family with sensorineural hearing loss and Turner syndrome
score: 4.6182281, Otolaryngology - Head and Neck Surgery, 1997, SCULERATI, NANCY et. al.

New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion
score: 4.6177667, Pediatric Neurology, 2006, Galbiati, Sara et. al.

A novel missense mutation of ABCA1 in transmembrane α-helix in a Japanese patient with Tangier disease
score: 4.6173135, Atherosclerosis, 2009, Maekawa, Mizuho et. al.

Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells.
score: 4.6161621, Cancer research, 1999, Bruening, W et. al.

Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome
score: 4.6140631, The American Journal of Human Genetics, 1998, Liu, Xue-Zhong et. al.

Initial isolation and analysis of the human Kv1.7 ( KCNA7) gene, a member of the voltage-gated potassium channel gene family
score: 4.6137256, Gene, 2001, Kashuba, Vladimir I et. al.

Recognition of the product of a novel MHC TL region gene (27 b) by a mouse γδ T cell receptor
score: 4.6133192, Cell, 1990, Ito, Kouichi et. al.

Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
score: 4.6126106, Journal of human genetics, 2008, Vilchis, Felipe et. al.

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
score: 4.6119859, Molecular Vision, 2011, Yang, Huiqin et. al.

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
score: 4.6117823, Molecular Genetics and Metabolism, 2006, Korman, Stanley H. et. al.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
score: 4.6111053, Genetics in medicine : official journal of the American College of Medical Genetics, 2005, Neudorfer, Orit et. al.

International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family.
score: 4.6109522, Pharmacological reviews, 2010, Wu, Long-Jun; Sweet, Tara-Beth; Clapham, David E

A Novel Mammalian, Mitotic Spindle–associated Kinase Is Related to Yeast and Fly Chromosome Segregation Regulators
score: 4.6107251, The Journal of Cell Biology, 1997, Gopalan, Ganesan; Chan, Clarence S.M.; Donovan, Peter J.

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome
score: 4.6106141, Blood Cells, Molecules and Diseases, 2007, Costa, Elísio et. al.

Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: Mitochondrial DNA mutations
score: 4.6103641, Survey of Ophthalmology, 1991, Phillips, Calbert I.; Gosden, Christine M.

Cloning of a carcinoembryonic antigen gene family member expressed in leukocytes of chronic myeloid leukemia patients and bone marrow.
score: 4.6102399, Cancer research, 1990, Berling, B et. al.

Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression
score: 4.6102003, The American Journal of Pathology, 2007, Stoffel, Wilhelm et. al.

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
score: 4.609917, British journal of haematology, 2009, Constantine, Clare C et. al.

The activation domain of the enhancer binding protein p45NF-E2 interacts with TAFII130 and mediates long-range activation of the alpha- and beta-globin gene loci in an erythroid cell line.
score: 4.6090602, Proceedings of the National Academy of Sciences of the United States of America, 1997, Amrolia, P J et. al.

Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.
score: 4.6079861, Annals of neurology, 1999, Hoshino, M et. al.

Identification of four novel mutations in five unrelated Korean families with Fabry disease.
score: 4.6079497, Clinical genetics, 2000, Lee, J K; Kim, G H; Kim, J S; Kim, K K; Lee, M C; Yoo, H W

Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?
score: 4.6076241, Pediatric research, 2001, Chen, H L et. al.

Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
score: 4.6069532, Cancer research, 2009, Horvath, Anelia et. al.

Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.
score: 4.6056657, Proceedings of the National Academy of Sciences of the United States of America, 2011, Honda, Hiroaki et. al.

Dramatically decreased high density lipoprotein cholesterol, increased remnant clearance, and insulin hypersensitivity in apolipoprotein A-II knockout mice suggest a complex role for apolipoprotein A-II in atherosclerosis susceptibility.
score: 4.6043381, Proceedings of the National Academy of Sciences of the United States of America, 1996, Weng, W; Breslow, J L

Identification of a Stat Gene That Functions in Drosophila Development
score: 4.6040903, Cell, 1996, Yan, Riqiang et. al.

Neuromuscular disorders: Gene location
score: 4.6030773, Neuromuscular Disorders, 1995,

Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family.
score: 4.6030172, Journal of immunology (Baltimore, Md. : 1950), 2009, Abe, Katsuaki et. al.

Cloning and characterization of R-PTP-kappa, a new member of the receptor protein tyrosine phosphatase family with a proteolytically cleaved cellular adhesion molecule-like extracellular region.
score: 4.6020469, Molecular and cellular biology, 1993, Jiang, Y P et. al.

Wiskott-Aldrich syndrome in a family with Fanconi anemia
score: 4.6019095, The Journal of Pediatrics, 1996, Rohrer, Jurg et. al.

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
score: 4.60186, Human mutation, 2011, Putku, Margus et. al.

Genomic organization of the siglec gene locus on chromosome 19q13.4 and cloning of two new siglec pseudogenes
score: 4.6011334, Gene, 2002, Yousef, George M. et. al.

A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype.
score: 4.6004264, Proceedings of the National Academy of Sciences of the United States of America, 1998, Semple-Rowland, S L et. al.

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
score: 4.6001459, European journal of human genetics : EJHG, 2012, Al-Haggar, Mohammad et. al.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
score: 4.5995586, American journal of medical genetics. Part A, 2011, Jenkinson, Emma M et. al.

Eight previously unidentified mutations found in the OA1 ocular albinism gene
score: 4.5972932, BMC Medical Genetics, 2006, Mayeur, Hélène et. al.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
score: 4.5971952, Molecular Vision, 2008, Dai, Hanjun et. al.

Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
score: 4.5966349, European journal of human genetics : EJHG, 2009, Xiong, Feng et. al.

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient
score: 4.5966006, Journal of the Neurological Sciences, 1990, Mitsuo, Kunihiko et. al.

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
score: 4.5955167, FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1994, Brooks, C C; Tolan, D R

KITLG mutations cause familial progressive hyper- and hypopigmentation.
score: 4.5951534, The Journal of investigative dermatology, 2011, Amyere, Mustapha et. al.

CYP21 mutations and congenital adrenal hyperplasia.
score: 4.5945098, Clinical genetics, 2001, Lee, H H

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
score: 4.5942896, Journal of human genetics, 2010, Kunishima, Shinji et. al.

Genomic Organization of the Faciogenital Dysplasia (FGD1; Aarskog Syndrome) Gene
score: 4.5940209, Genomics, 1997, Pasteris, N.German et. al.

Familial mastocytosis associated with neurosensory deafness.
score: 4.5934432, Journal of the European Academy of Dermatology and Venereology : JEADV, 2000, Trevisan, G; Pauluzzi, P; Gatti, A; Semeraro, A

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene
score: 4.5927512, Molecular and Cellular Probes, 2010, Kropatsch, Regina et. al.

SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family
score: 4.5919382, Genomics, 1999, Bassi, Maria Teresa et. al.

A Novel Family of Serine/Threonine Kinases Participating in Spermiogenesis
score: 4.5919243, The Journal of Cell Biology, 1997, Kueng, Peter et. al.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
score: 4.5916611, European journal of human genetics : EJHG, 2009, Kanber, Deniz et. al.

Aneuploidies, chromosome aberrations and dominant gene mutations detected in 113913 consecutive newborn children in Mexico
score: 4.5913533, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1990, Hernández, A. et. al.

Human FIGF:Cloning, Gene Structure, and Mapping to Chromosome Xp22.1 between the PIGAand the GRPRGenes
score: 4.5902609, Genomics, 1998, Rocchigiani, Marina et. al.

Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases.
score: 4.5900748, Proceedings of the National Academy of Sciences of the United States of America, 2006, Lee, Seunghee et. al.

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
score: 4.5893388, Clinical genetics, 2011, Desai, V et. al.

Structure of the leukemia-associated human CBFB gene
score: 4.5892728, Genomics, 1995, Hajra, Amitav; Collins, Francis S.

Cloning and chromosomal localisation of the murine epidermal-type fatty acid binding protein gene ( Fabpe)
score: 4.5890587, Gene, 1998, Bleck, Bertram et. al.

Direct binding of the human homologue of the Drosophila disc large tumor suppressor gene to seven-pass transmembrane proteins, tumor endothelial marker 5 (TEM5), and a novel TEM5-like protein.
score: 4.5867176, Oncogene, 2004, Yamamoto, Yasunori et. al.

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease
score: 4.5865462, American Journal of Kidney Diseases, 2006, Utsch, Boris et. al.

LIS1 Regulates CNS Lamination by Interacting with mNudE, a Central Component of the Centrosome
score: 4.5862759, Neuron, 2000, Feng, Yuanyi et. al.

Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments
score: 4.584847, Cell, 1990, Chavrier, Philippe et. al.

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
score: 4.5846678, Clinical genetics, 1999, Cario, H; Bode, H; Gustavsson, P; Dahl, N; Kohne, E

Mutation of the SNF2 family member Chd2 affects mouse development and survival.
score: 4.5844752, Journal of cellular physiology, 2006, Marfella, Concetta G A et. al.

11 The molecular genetics of familial venous thrombosis
score: 4.5841403, Bailliere's Clinical Haematology, 1994, Cooper, David N.

Novel human prostate-specific cDNA: molecular cloning, expression, and immunobiology of the recombinant protein
score: 4.5838951, Biochemical and Biophysical Research Communications, 2002, Naz, Rajesh K; Santhanam, Ramasamy; Tyagi, Neetu

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
score: 4.5825095, Diabetes, 2008, Stutzmann, Fanny et. al.

An interspecific linkage map of mouse chromosome 15 positioned with respect to the centromere
score: 4.5816369, Genomics, 1992, Brannan, Camilynn I. et. al.

Grf40, A Novel Grb2 Family Member, Is Involved in T Cell Signaling through Interaction with SLP-76 and LAT
score: 4.5814207, The Journal of Experimental Medicine, 1999, Asada, Hiroshi et. al.

Expression cloning of a cDNA encoding a novel murine B cell activation marker. Homology to human CD38.
score: 4.5810809, Journal of immunology (Baltimore, Md. : 1950), 1993, Harada, N et. al.

Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
score: 4.580822, The Lancet, 1996, Monaghan, G; Ryan, M; Hume, R; Burchell, B; Seddon, R

Identification of Novel Exons 3′ to the Human SNRPNGene
score: 4.5804683, Genomics, 1997, Buiting, Karin et. al.

Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons
score: 4.5804232, Genomics, 2005, Nagao, Kazuaki et. al.

Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma.
score: 4.5800827, Cancer research, 1994, Ohta, M et. al.

Localization of a novel tumor suppressor locus on human chromosome 3q important in osteosarcoma tumorigenesis.
score: 4.577689, Cancer research, 1997, Kruzelock, R P et. al.

The trafficking protein Tmed2/p24β 1 is required for morphogenesis of the mouse embryo and placenta
score: 4.5774518, Developmental Biology, 2010, Jerome-Majewska, Loydie A. et. al.

Molecular cloning, mapping, and functional analysis of the bovine sulfate transporter SLC26a2 gene
score: 4.5766914, Gene, 2003, Brenig, Bertram et. al.

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
score: 4.5756147, European journal of human genetics : EJHG, 2010, Edener, Ulf et. al.

Molecular genetics in neurology.
score: 4.5753435, Annals of neurology, 1993, Martin, J B

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence.
score: 4.5751866, Molecular psychiatry, 2005, Harrison, P J; Weinberger, D R

Three Novel Missense Mutations in Unrelated Japanese Patients with Type I and Type II Protein S Deficiency and Venous Thrombosis
score: 4.5748812, Thrombosis Research, 1998, Fujimura, Hironobu et. al.

Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients
score: 4.5746245, Biochemical and Biophysical Research Communications, 1997, Nicolino, Marc et. al.

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.
score: 4.5745742, Proceedings of the National Academy of Sciences of the United States of America, 2011, Cappola, Thomas P et. al.

c-Abl is required for development and optimal cell proliferation in the context of p53 deficiency.
score: 4.5744851, Proceedings of the National Academy of Sciences of the United States of America, 2000, Whang, Y E et. al.

Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2.
score: 4.5737252, Proceedings of the National Academy of Sciences of the United States of America, 2000, Wu, X et. al.

PAR3β, a novel homologue of the cell polarity protein PAR3, localizes to tight junctions
score: 4.573583, Biochemical and Biophysical Research Communications, 2002, Kohjima, Motoyuki et. al.

Cloning and characterization of human Src-like adaptor protein 2 and a novel splice isoform, SLAP-2-v.
score: 4.5726203, Oncogene, 2003, Loreto, Michael P; McGlade, C Jane

Analysis of hereditary component of cancer by use of a familial index by site
score: 4.5706393, The Lancet, 2001, Lindelöf, Bernt; Eklund, Gunnar

Gene therapy for murine glycerol kinase deficiency: Importance of murine ortholog
score: 4.5698835, Biochemical and Biophysical Research Communications, 2005, Kuwada, N. et. al.

Molecular genetics of tetrahydrobiopterin (BH 4) deficiency in the Maltese population
score: 4.5695798, Molecular Genetics and Metabolism, 2007, Farrugia, Rosienne et. al.

Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients
score: 4.5685985, Molecular Genetics and Metabolism, 2006, Laradi, S. et. al.

A family of mammalian anion transporters and their involvement in human genetic diseases.
score: 4.566938, Human molecular genetics, 1999, Everett, L A; Green, E D

Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees.
score: 4.563977, Haemophilia : the official journal of the World Federation of Hemophilia, 2004, Fu, Q-H et. al.

Genetic analysis of genomic imprinting: An Imprintor-1 gene controls inactivation of the paternal copy of the mouse Tme locus
score: 4.5630842, Cell, 1992, Forejt, Jir̆i; Gregorová, Son̆a

Characterization of a Novel Gene, C21orf6, Mapping to a Critical Region of Chromosome 21q22.1 Involved in the Monosomy 21 Phenotype and of Its Murine Ortholog, orf5
score: 4.5624226, Genomics, 2000, Orti, R. et. al.

The mitochondrial tRNA Glu A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber’s hereditary optic neuropathy
score: 4.56222, Biochemical and Biophysical Research Communications, 2007, Tong, Yi et. al.

WW-Domain-Containing Oxidoreductase Is Associated with Low Plasma HDL-C Levels
score: 4.5603564, The American Journal of Human Genetics, 2008, Lee, Jenny C. et. al.

Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice
score: 4.558397, The Journal of Cell Biology, 2000, Richard, Isabelle et. al.

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
score: 4.5575894, Kidney international, 1994, Nakazato, H et. al.

A Krüppel-associated box-zinc finger protein, NT2, represses cell-type-specific promoter activity of the alpha 2(XI) collagen gene.
score: 4.5565255, Molecular and cellular biology, 2002, Tanaka, Kazuhiro et. al.

Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene
score: 4.5554865, FEBS Letters, 1998, Chahal, Amarjit et. al.

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.
score: 4.5551475, Cancer research, 2001, Dörk, T et. al.

Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish
score: 4.5539476, Gene, 2001, Bolaños-Jiménez, Francisco et. al.

The Rho-Specific GEF Lfc Interacts with Neurabin and Spinophilin to Regulate Dendritic Spine Morphology
score: 4.5539068, Neuron, 2005, Ryan, Xiaozhou P. et. al.

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
score: 4.5533519, Neuromuscular Disorders, 1994, Muntoni, Francesco et. al.

Construction of a 2.5-Mb Integrated Physical and Gene Map of Distal 21q22.3
score: 4.553345, Genomics, 1998, Lapenta, Vincenza et. al.

Expression of a novel member of sorting nexin gene family, SNX-L, in human liver development
score: 4.5531514, Biochemical and Biophysical Research Communications, 2002, Zeng, Weiqi et. al.

Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites
score: 4.5530056, Neuron, 1995, Lyford, Gregory L et. al.

A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
score: 4.5522919, Atherosclerosis, 2001, Bertolini, S. et. al.

Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
score: 4.5509072, The American Journal of Human Genetics, 1999, Edelmann, Lisa; Pandita, Raj K.; Morrow, Bernice E.

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
score: 4.5508897, Journal of human genetics, 2008, Tabata, Ayako et. al.

Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud.
score: 4.5505179, Developmental dynamics : an official publication of the American Association of Anatomists, 1999, Caubit, X et. al.

Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
score: 4.5501467, Kidney international, 2006, Calado, J et. al.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
score: 4.5490033, Human mutation, 2012, Böhm, Johann et. al.

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients
score: 4.5488011, Gene, 2013, Gaignard, Pauline et. al.

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.
score: 4.5485543, European journal of human genetics : EJHG, 2011, Hebrard, Maxime et. al.

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.
score: 4.5473903, Clinical genetics, 2001, Pepe, G et. al.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
score: 4.5469473, Molecular psychiatry, 2010, Laumonnier, F et. al.

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene
score: 4.5458986, Genomics, 1990, Brown, R.M.; Fraser, N.J.; Brown, G.K.

Hoxa 11 is upstream of Integrin alpha8 expression in the developing kidney.
score: 4.545816, Proceedings of the National Academy of Sciences of the United States of America, 2002, Valerius, M Todd et. al.

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata
score: 4.5455837, Journal of the American Academy of Dermatology, 2005, Chuang, Gary S. et. al.

The armadillo repeat region targets ARVCF to cadherin-based cellular junctions.
score: 4.5448492, Journal of cell science, 2000, Kaufmann, U et. al.

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene
score: 4.5446636, Neuron, 1994, Kagawa, Tetsushi et. al.

Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation and Early Sudden Cardiac Death
score: 4.5445751, Cell, 2008, Zhang, Xianqin et. al.

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.
score: 4.544445, Human molecular genetics, 2010, Alvarez-Saavedra, Matías et. al.

Protein Tyrosine Phosphatases in the Human Genome
score: 4.5424665, Cell, 2004, Alonso, Andres et. al.

A Novel Mutation in Human Ether-a-Go-Go-Related Gene, Alanine to Proline at Position 490, Found in a Large Family With Autosomal Dominant Long QT Syndrome
score: 4.5420541, The American Journal of Cardiology, 2007, Pellegrino, Pier Luigi et. al.

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update
score: 4.5417736, Survey of Ophthalmology, 2003, Hu, Xiaofeng et. al.

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
score: 4.5414837, Gastroenterology, 1994, Giardiello, Francis M. et. al.

TTID: A Novel Gene at 5q31 Encoding a Protein with Titin-like Features
score: 4.5414735, Genomics, 1999, Godley, Lucy A. et. al.

X-inactivation and human disease: X-linked dominant male-lethal disorders
score: 4.5410055, Current Opinion in Genetics & Development, 2006, Franco, Brunella; Ballabio, Andrea

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations
score: 4.5391964, The American Journal of Human Genetics, 1997, Browne, C.E. et. al.

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
score: 4.5364298, The American Journal of Human Genetics, 2013, Zeitz, Christina et. al.

Molecular basis and diagnosis of neurogenetic disorders
score: 4.5357807, Journal of the Neurological Sciences, 1994, Müller, Ulrich et. al.

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.
score: 4.5321423, Journal of internal medicine, 1990, Kajinami, K et. al.

CAG/CTG and CGG/GCC Repeats in Human Brain Reference cDNAs: Outcome in Searching for New Dynamic Mutations
score: 4.5308896, Genomics, 1998, Albanese, Veronique et. al.

Microcephaly gene links Trithorax and REST/NRSF to control neural stem cell proliferation and differentiation
score: 4.5299467, Cell, 2012, Yang, Yawei J. et. al.

Polymorphism in SNAP29 gene promoter region associated with schizophrenia.
score: 4.5294564, Molecular psychiatry, 2001, Saito, T et. al.

cDNA cloning, expression profile, and genomic structure of human and mouse RNF10/Rnf 10 genes, encoding a novel RING finger protein.
score: 4.5293771, Journal of human genetics, 2000, Seki, N; Hattori, A; Sugano, S; Muramatsu, M; Saito, T

Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis.
score: 4.5293165, Proceedings of the National Academy of Sciences of the United States of America, 2002, Saito, Yoshimasa et. al.

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
score: 4.5288793, Clinical genetics, 2010, Morak, M; Laner, A; Bacher, U; Keiling, C; Holinski-Feder, E

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease
score: 4.5285828, Journal of the Neurological Sciences, 2006, Kabzińska, Dagmara et. al.

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
score: 4.5283206, American Journal of Ophthalmology, 1999, Coleman, Carrie M. et. al.

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
score: 4.5276857, Proceedings of the National Academy of Sciences of the United States of America, 1990, Fujita, R; Hanauer, A; Sirugo, G; Heilig, R; Mandel, J L

RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor gene candidates for B-cell chronic lymphocytic leukemia
score: 4.5273387, Cancer Genetics and Cytogenetics, 2003, van Everdink, W.J et. al.

Physical and Transcription Map in the Region 14q24.3: Identification of Six Novel Transcripts
score: 4.5272681, Genomics, 1997, Roux, Anne-Françoise et. al.

Sensorineural Hearing Loss, Early Greying, and Essential Tremor: A New Hereditary Syndrome?
score: 4.5255569, Otolaryngology - Head and Neck Surgery, 2005, Karmody, Collin S.; Blevins, Nikolas H.; Lalwani, Anil K.

Genomic Mapping of Chromosomal Region 2p15–p21 (D2S378–D2S391): Integration of Genemap'98 within a Framework of Yeast and Bacterial Artificial Chromosomes
score: 4.5252239, Genomics, 1999, Kirschner, Lawrence S. et. al.

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
score: 4.5239726, The American Journal of Medicine, 2002, Garg, Abhimanyu; Speckman, Rebecca A; Bowcock, Anne M

A genome-wide association study of metabolic traits in human urine.
score: 4.5231703, Nature genetics, 2011, Suhre, Karsten et. al.

A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q
score: 4.5229308, The American Journal of Human Genetics, 2001, Wiltshire, Steven et. al.

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency
score: 4.522887, Growth Hormone & IGF Research, 2001, Katsumata, N; Matsuo, S; Sato, N; Tanaka, T

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases
score: 4.5224677, American Journal of Kidney Diseases, 2003, Vega, Bárbara Tazón et. al.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
score: 4.5221039, The Journal of investigative dermatology, 2004, Ashton, Gabrielle H S et. al.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
score: 4.5219941, Atherosclerosis, 2009, Faiyaz-Ul-Haque, Muhammad et. al.

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
score: 4.52198, The Journal of Cell Biology, 2003, Atorino, Luigia et. al.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations InNDUFV1andNDUFS2
score: 4.5215489, Gene, 2013, Marin, Samantha E. et. al.

Characterization and chromosomal localization of PTP-NP-2, a new isoform of protein tyrosine phosphatase-like receptor, expressed on synaptic boutons 1 The nucleotide sequence reported in this paper has been submitted to the GenBank ™/EMBL DataBank with Accession No. U81561. 1
score: 4.5214596, Gene, 1998, Jiang, Shuxian et. al.

Mutations in human 11β-hydroxylase genes: 11β-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran
score: 4.5211957, Journal of Steroid Biochemistry and Molecular Biology, 1993, Rösler, Ariel; White, Perrin C.

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
score: 4.5211274, Journal of human genetics, 2011, Nakanishi, Hiroshi et. al.

Regulation of tyrosinase trafficking and processing by presenilins: partial loss of function by familial Alzheimer's disease mutation.
score: 4.5192004, Proceedings of the National Academy of Sciences of the United States of America, 2006, Wang, Runsheng et. al.

Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago
score: 4.5190853, The American Journal of Human Genetics, 1999, Díaz, Anna et. al.

The link between cytogenetics and mendelism
score: 4.5186259, Biomedicine & Pharmacotherapy, 1995, Dallapiccola, B; Mingarelli, R; Novelli, G

Hereditary antithrombin III deficiency with a superior sagittal sinus thrombosis: Evidence for a possible mutation starting in the mother of the propositus
score: 4.5182657, Thrombosis Research, 1990, Muramatsu, Shinichi et. al.

Potential role of BRCA2 in a mitotic checkpoint after phosphorylation by hBUBR1.
score: 4.5182255, Cancer research, 2000, Futamura, M et. al.

Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy
score: 4.5178537, Canadian Journal of Cardiology, 2010, Lin, Jia et. al.

Genome-wide scan in a large complex pedigree with predominantly male schizophrenics from the island of Kosrae: evidence for linkage to chromosome 2q.
score: 4.5175662, Molecular psychiatry, 2003, Wijsman, E M et. al.

Molecular cloning and characterization of a human brain-specific gene implicated in neuronal differentiation
score: 4.5166572, Molecular Brain Research, 1998, Fan, Frank S et. al.

A Candidate Gene Approach within the Susceptibility Region PCaP on 1q42.2–43 Excludes Deleterious Mutations of the PCTA-1 Gene to be Responsible for Hereditary Prostate Cancer
score: 4.5165543, European Urology, 2002, Maier, C et. al.

Developmental or degenerative – NR2E3 gene mutations in two patients with enhanced S cone syndrome
score: 4.5158112, Molecular Vision, 2011, Udar, Nitin et. al.

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients
score: 4.5136634, BMC Medical Genetics, 2013, Romero-Quintana, José G et. al.

Novel genomic techniques open new avenues in the analysis of monogenic disorders.
score: 4.5124916, Human mutation, 2011, Kuhlenbäumer, Gregor; Hullmann, Julia; Appenzeller, Silke

A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing.
score: 4.5122393, Proceedings of the National Academy of Sciences of the United States of America, 2000, Polydorides, A D et. al.

Neural restrictive silencer factor recruits mSin3 and histone deacetylase complex to repress neuron-specific target genes.
score: 4.5114072, Proceedings of the National Academy of Sciences of the United States of America, 1999, Naruse, Y; Aoki, T; Kojima, T; Mori, N

A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2
score: 4.5090903, Genomics, 2001, Acierno, James S. et. al.

Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene
score: 4.5085146, Blood Cells, Molecules and Diseases, 2008, Fermo, Elisa et. al.

Identification and characterization of a gene encoding a kinesin-like protein in Drosophila
score: 4.5084659, Cell, 1990, McDonald, Heather B.; Goldstein, Lawrence S.B.

Monogenic causes of X-linked mental retardation.
score: 4.5078863, Nature reviews. Genetics, 2001, Chelly, J; Mandel, J L

Loss of human CR1- and murine Crry-like exons in human CR2 transcripts due to CR2 gene mutations.
score: 4.5078751, Journal of immunology (Baltimore, Md. : 1950), 1990, Holguin, M H; Kurtz, C B; Parker, C J; Weis, J J; Weis, J H

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
score: 4.5073349, Hearing Research, 2005, Kalay, Ersan et. al.

The human tuftelin gene: cloning and characterization
score: 4.5070731, Gene, 2001, Mao, Zhengkuan et. al.

The floppy infant: contribution of genetic and metabolic disorders
score: 4.5068006, Brain and Development, 2003, Prasad, Asuri N.; Prasad, Chitra

Genetic linkage analysis and homology relationships of genes located on human chromosome 11q
score: 4.5064438, Genomics, 1991, Charmley, Patrick et. al.

Use of isolated inbred human populations for identification of disease genes
score: 4.5061911, Trends in Genetics, 1998, Sheffield, Val C; Stone, Edwin M; Carmi, Rivka

Yeast centromere binding protein CBF1, of the helix-loop-helix protein family, is required for chromosome stability and methionine prototrophy
score: 4.5060563, Cell, 1990, Cai, Mingjie; Davis, Ronald W.

Microphthalmia in Texel Sheep Is Associated with a Missense Mutation in the Paired-Like Homeodomain 3 ( PITX3 ) Gene
score: 4.5053539, PLoS ONE, 2010, Becker, Doreen et. al.

Inherited interstitial lung disease
score: 4.5043129, Clinics in Chest Medicine, 2004, Garcia, Christine Kim; Raghu, Ganesh

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family
score: 4.5042193, Human Mutation, 2010, Hilhorst-Hofstee, Yvonne et. al.

Isolation of a murine homologue of the Drosophila neuralized gene, a gene required for axonemal integrity in spermatozoa and terminal maturation of the mammary gland.
score: 4.5040151, Molecular and cellular biology, 2001, Vollrath, B; Pudney, J; Asa, S; Leder, P; Fitzgerald, K

A Turning Point in Schizophrenia Genetics
score: 4.5033905, Neuron, 1997, Karayiorgou, Maria; Gogos, Joseph A

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
score: 4.5032442, The American Journal of Human Genetics, 2012, Chong, Jessica X. et. al.

Molecular cloning and characterization of a human eotaxin receptor expressed selectively on eosinophils
score: 4.5028959, The Journal of Experimental Medicine, 1996,

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.
score: 4.5024859, Journal of thrombosis and haemostasis : JTH, 2004, Quélin, F et. al.

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
score: 4.5023862, Human mutation, 1994, Clarke, L A et. al.

Genetic transfer of a functional human interferon α receptor into mouse cells: Cloning and expression of its c-DNA
score: 4.5010083, Cell, 1990, Uzé, Gilles; Lutfalla, Georges; Gresser, Ion

Molecular cloning and characterization of human Castor, a novel human gene upregulated during cell differentiation
score: 4.500794, Biochemical and Biophysical Research Communications, 2006, Liu, Zhihui et. al.

MAX-1, a Novel PH/MyTH4/FERM Domain Cytoplasmic Protein Implicated in Netrin-Mediated Axon Repulsion
score: 4.5006176, Neuron, 2002, Huang, Xun et. al.

Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome
score: 4.5002982, International Journal of Pediatric Otorhinolaryngology, 2004, Keogh, Ivan J et. al.

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
score: 4.5002636, Human mutation, 2011, Babbs, Christian et. al.

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
score: 4.5001849, Molecular Genetics and Metabolism, 2009, Mazen, I.; El-Gammal, M.; Abdel-Hamid, M.; Amr, K.

Homeosis in the mouse induced by a null mutation in the Hox-3.1 gene
score: 4.4998599, Cell, 1992, Le Mouellic, Hervé; Lallemand, Yvan; Brûlet, Philippe

Genomic Organization, Mapping, Tissue Expression, and Hormonal Regulation of Trypsin-like Serine Protease (TLSP PRSS20), a New Member of the Human Kallikrein Gene Family
score: 4.4990105, Genomics, 2000, Yousef, George M. et. al.

ZNF411, a novel KRAB-containing zinc-finger protein, suppresses MAP kinase signaling pathway
score: 4.4989122, Biochemical and Biophysical Research Communications, 2004, Liu, Hui et. al.

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.
score: 4.4987593, Human mutation, 1994, Upadhyaya, M; Shaw, D J; Harper, P S

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
score: 4.4980493, Journal of human genetics, 2012, Salem, Ikhlass Hadj et. al.

A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors
score: 4.4972614, Cell, 1990, Souyri, Michèle et. al.

Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls
score: 4.4961728, Brain and Development, 1990, Gordon, Carlos R et. al.

Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology
score: 4.4957222, Genomics, 1990, Fisher, Elizabeth M.C. et. al.

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
score: 4.4955524, European journal of human genetics : EJHG, 2009, Bliznetz, Elena A et. al.

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus
score: 4.4926085, BMC Genetics, 2003, Delettre, Cécile et. al.

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
score: 4.4925171, Molecular Genetics and Metabolism, 2010, El-Hattab, Ayman W. et. al.

Mutation screening and association of human retinoid X receptor γ variation with lipid levels in familial type 2 diabetes
score: 4.4923688, Molecular Genetics and Metabolism, 2002, Wang, Hua et. al.

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
score: 4.4909906, Journal of the American College of Cardiology, 2002, Feng, Jinong et. al.

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
score: 4.4909906, Journal of the American College of Cardiology, 2002, Feng, Jinong et. al.

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
score: 4.4905357, Clinical endocrinology, 2007, Tõke, Judit et. al.

Human cathepsin X: A novel cysteine protease of the papain family with a very short proregion and unique insertions 1 NRCC Publication No. 41436. The nucleotide sequence reported in this paper has been submitted to the GenBank/EMBL data bank under GenBank accession number AF073890. 1
score: 4.4904365, FEBS Letters, 1998, Nägler, Dorit K; Ménard, Robert

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
score: 4.4900396, European journal of human genetics : EJHG, 2007, Gimelli, Giorgio et. al.

Identification of novel mutations in patients with Shwachman-Diamond syndrome.
score: 4.4899215, Human mutation, 2005, Nicolis, Elena et. al.

Localization of 67 Exons on a YAC Contig Spanning 1.5 Mb around the Multidrug Resistance Gene Region of Human Chromosome 7q21.1
score: 4.4894869, Genomics, 1998, Torigoe, Kiyoyuki et. al.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
score: 4.4889581, Kidney international, 2009, Rossetti, Sandro et. al.

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD
score: 4.4885398, Neuromuscular Disorders, 2002, Voit, Th et. al.

Expression of a nonmyristylated variant of the catalytic subunit of protein kinase A during male germ-cell development.
score: 4.4878337, Proceedings of the National Academy of Sciences of the United States of America, 2000, Desseyn, J L; Burton, K A; McKnight, G S

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
score: 4.4873097, Molecular Vision, 2011, Xu, Wenjun et. al.

Expression and characterization of the IPM 150 gene ( IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan
score: 4.486976, Matrix Biology, 1999, Kuehn, Markus H.; Hageman, Gregory S.

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber’s hereditary optic neuropathy
score: 4.4848655, Biochemical and Biophysical Research Communications, 2005, Qian, Yaping et. al.

The protein of a new gene, Tctex4, interacts with protein kinase CK2β subunit and is highly expressed in mouse testis
score: 4.4833319, Biochemical and Biophysical Research Communications, 2003, Bai, Xiyuan et. al.

A 178-kb BAC transgene imprints the mouse Gtl2 gene and localizes tissue-specific regulatory elements
score: 4.4828433, Genomics, 2004, Yevtodiyenko, Aleksey et. al.

Metabolic cardiomyopathies.
score: 4.4825864, International journal of experimental pathology, 2000, Guertl, B; Noehammer, C; Hoefler, G

Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
score: 4.4822464, Molecular Genetics and Metabolism, 2006, Bessa, C. et. al.

Mutation screening of Pakistani families with congenital eye disorders
score: 4.4821477, Experimental Eye Research, 2003, Khaliq, Shagufta et. al.

Manipulating the Mouse Genome to Engineer Precise Functional Syntenic Replacements with Human Sequence
score: 4.4821333, Cell, 2007, Wallace, Helen A.C. et. al.

Mena Is Required for Neurulation and Commissure Formation
score: 4.4812788, Neuron, 1999, Lanier, Lorene M et. al.

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.
score: 4.4811967, Proceedings of the National Academy of Sciences of the United States of America, 2009, Brown, Jacob D et. al.

Expression of the BNLF-1 oncogene of Epstein-Barr virus in the skin of transgenic mice induces hyperplasia and aberrant expression of keratin 6
score: 4.480887, Cell, 1990, Wilson, Joanna B. et. al.

Cloning and Characterization of the Multiple Murine Homologues of NAIP(Neuronal Apoptosis Inhibitory Protein)
score: 4.4803998, Genomics, 1998, Yaraghi, Zahra; Korneluk, Robert G.; MacKenzie, Alex

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.
score: 4.478925, American journal of medical genetics. Part A, 2010, Summers, Kim M et. al.

A novel splicing mutation of the ATRX gene in ATR-X syndrome
score: 4.4787726, Brain and Development, 2006, Wada, Takahito et. al.

Common variation in the BRCA1 gene and prostate cancer risk.
score: 4.4787266, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2007, Douglas, Julie A et. al.

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
score: 4.4782202, European journal of human genetics : EJHG, 2007, Boulling, Arnaud et. al.

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
score: 4.4781132, Human Genomics, 2006, Shabbeer, Junaid et. al.

Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes
score: 4.4757365, Cell, 1990, Ruppert, Siegfried et. al.

Clustered Cadherin Genes: A Sequence-Ready Contig for the Desmosomal Cadherin Locus on Human Chromosome 18
score: 4.4737745, Genomics, 1999, Hunt, Debbie M. et. al.

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
score: 4.4722924, Neuromuscular Disorders, 2003, Watts, Giles D.J et. al.

Identification of novel keratinocyte-secreted peptides dermokine-α/-β and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1
score: 4.472116, Genomics, 2004, Matsui, Takeshi et. al.

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene
score: 4.4709828, BBA - Molecular Basis of Disease, 1996, Chen, Wengen et. al.

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families.
score: 4.4706776, Journal of immunology (Baltimore, Md. : 1950), 1999, Vorechovský, I et. al.

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies
score: 4.4699975, Neuron, 1992, Bascom, Roger A. et. al.

Spontaneous Irs1 passenger mutation linked to a gene-targeted SerpinB2 allele.
score: 4.4697085, Proceedings of the National Academy of Sciences of the United States of America, 2010, Westrick, Randal J et. al.

Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development
score: 4.4695922, The Journal of Cell Biology, 1995,

Red blood cell membrane disorders.
score: 4.4677841, British journal of haematology, 1999, Tse, W T; Lux, S E

Review of the molecular characteristics of gene mutations of the germline and somatic cells of the human
score: 4.4662207, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1990, Mohrenweiserf, H.W.; Jones, I.M.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
score: 4.4654861, American journal of medical genetics. Part A, 2010, McClelland, Verity et. al.

The murine complement receptor gene family. III. The genomic and transcriptional complexity of the Crry and Crry-ps genes.
score: 4.4653677, Journal of immunology (Baltimore, Md. : 1950), 1990, Paul, M S; Aegerter, M; Cepek, K; Miller, M D; Weis, J H

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
score: 4.4651526, Nature communications, 2011, Charizopoulou, Nikoletta et. al.

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
score: 4.4647727, Molecular Genetics and Metabolism, 2009, Pisciotta, Livia et. al.

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
score: 4.4647145, Clinical genetics, 2007, Krahn, M et. al.

TRADD–TRAF2 and TRADD–FADD Interactions Define Two Distinct TNF Receptor 1 Signal Transduction Pathways
score: 4.4636972, Cell, 1996, Hsu, Hailing et. al.

Construction of a Transcription Map around the Gene for Ataxia Telangiectasia: Identification of at Least Four Novel Genes
score: 4.4615353, Genomics, 1997, Stankovic, Tatjana et. al.

Ehlers-Danlos syndrome
score: 4.4605389, Bailliere's Clinical Rheumatology, 1991, Pope, F.M.

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata ( CDPX1)
score: 4.4603399, Genomics, 1995, Wang, Irène et. al.

ELFT: A gene that directs the expression of an ELAM-1 ligand
score: 4.4602694, Cell, 1990, Goelz, Susan E. et. al.

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues
score: 4.4598088, Developmental Biology, 2004, Shi, Wei et. al.

Paternally Transmitted FMR1 Alleles Are Less Stable than Maternally Transmitted Alleles in the Common and Intermediate Size Range
score: 4.4596811, The American Journal of Human Genetics, 2002, Sullivan, Amy K. et. al.

Cell regulation
score: 4.4592509, Current Opinion in Cell Biology, 1993,

Three novel brain tropomyosin isoforms are expressed from the rat alpha-tropomyosin gene through the use of alternative promoters and alternative RNA processing.
score: 4.4590646, Molecular and cellular biology, 1990, Lees-Miller, J P; Goodwin, L O; Helfman, D M

Unusual molecular findings in Kindler syndrome.
score: 4.4567995, The British journal of dermatology, 2007, Arita, K et. al.

Novel inheritance of the murine severe combined anemia and thrombocytopenia (scat) phenotype
score: 4.456359, Cell, 1993, Peters, Luanne L.; Barker, Jane E.

Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype
score: 4.4561068, Molecular Genetics and Metabolism, 2002, Shabbeer, Junaid et. al.

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
score: 4.453209, The American Journal of Human Genetics, 2013, Onoufriadis, Alexandros et. al.

TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP.
score: 4.4526021, Molecular and cellular biology, 2005, Chong, Jayhong A et. al.

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex
score: 4.4523506, Neuromuscular Disorders, 1996, Duggan, David J.; Hoffman, Eric P.

Familial defective apolipoprotein B-100: Haplotype analysis of the arginine (3500) → glutamine mutation
score: 4.45231, Atherosclerosis, 1991, Rauh, G. et. al.

Gene organisation, sequence variation and isochore structure at the centromeric boundary of the human MHC 1 1 Edited by J. Karn
score: 4.4521257, Journal of Molecular Biology, 1999, Stephens, Richard et. al.

β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
score: 4.4520374, Neuromuscular Disorders, 1998, Duclos, F et. al.

Structural organization and expression of human MTUS1, a candidate 8p22 tumor suppressor gene encoding a family of angiotensin II AT2 receptor-interacting proteins, ATIP
score: 4.4509569, Gene, 2006, Di Benedetto, M. et. al.

Telomere length is inherited with resetting of the telomere set-point.
score: 4.4491518, Proceedings of the National Academy of Sciences of the United States of America, 2010, Chiang, Y Jeffrey et. al.

Boo, a novel negative regulator of cell death, interacts with Apaf-1.
score: 4.4480413, The EMBO journal, 1999, Song, Q; Kuang, Y; Dixit, V M; Vincenz, C

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
score: 4.4479688, Human mutation, 2011, Cooper, David N et. al.

Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.
score: 4.4478802, Nucleic acids research, 1993, Troelstra, C; Hesen, W; Bootsma, D; Hoeijmakers, J H

Optic atrophies in metabolic disorders
score: 4.4473606, Molecular Genetics and Metabolism, 2005, Huizing, Marjan; Brooks, Brian P.; Anikster, Yair

Targeted disruption of the flk2/flt3 gene leads to deficiencies in primitive hematopoietic progenitors
score: 4.4466709, Immunity, 1995, Mackarehtschian, Katrin et. al.

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
score: 4.4464937, European journal of human genetics : EJHG, 2012, Radhakrishna, Uppala et. al.

Sequence, chromosomal location and expression analysis of the murine homologue of human RAD51L2/RAD51C
score: 4.4462134, Gene, 2001, Leasure, Christopher S et. al.

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans
score: 4.4461206, PLoS Genetics, 2011, Labelle-Dumais, Cassandre et. al.

Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel–Lindau tumor suppressor
score: 4.4459384, Biochemical and Biophysical Research Communications, 2002, Li, Zaibo et. al.

Gene control in germinal differentiation: RNF6, a transcription regulatory protein in the mouse sertoli cell.
score: 4.4445524, Molecular and cellular biology, 2002, Lopez, Pascal et. al.

The role of mouse mutants in the identification of human hereditary hearing loss genes
score: 4.4442012, Hearing Research, 1999, Probst, Frank J; Camper, Sally A

The murine BTB/POZ zinc finger gene Znf131: predominant expression in the developing central nervous system, in adult brain, testis, and thymus
score: 4.4425528, Biochemical and Biophysical Research Communications, 2002, Trappe, R et. al.

Limb-girdle syndrome: a genetic study of 22 large Brazilian families comparison with X-linked Duchenne and Becker dystrophies
score: 4.4411245, Journal of the Neurological Sciences, 1991, Rita Passos-Bueno, M. et. al.

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
score: 4.4405839, American journal of medical genetics. Part A, 2011, Parrini, Elena et. al.

Identification of BOIP, a novel cDNA highly expressed during spermatogenesis that encodes a protein interacting with the orange domain of the hairy-related transcription factor HRT1/Hey1 in Xenopus and mouse.
score: 4.4402401, Developmental dynamics : an official publication of the American Association of Anatomists, 2003, Van Wayenbergh, Reginald et. al.

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.
score: 4.4400106, EMBO reports, 2002, El-Amraoui, Aziz et. al.

Neuromuscular disorders: Gene location
score: 4.4396784, Neuromuscular Disorders, 1994,

Genetic mapping of the lurcher locus on mouse chromosome 6 using an intersubspecific backcross
score: 4.4384942, Genomics, 1991, Norman, Deborah J.; Fletcher, Colin; Heintz, Nathaniel

Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene
score: 4.4382574, Molecular Immunology, 2008, Amano, Mariane T. et. al.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
score: 4.4370859, BMC Medical Genetics, 2005, Schüle, Birgitt et. al.

Isolated sulfite oxidase deficiency
score: 4.436337, Ophthalmology, 1999, Edwards, Marianne C et. al.

Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns
score: 4.4357707, Journal of the American College of Cardiology, 2000, Piippo, Kirsi et. al.

Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns
score: 4.4357707, Journal of the American College of Cardiology, 2000, Piippo, Kirsi et. al.

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
score: 4.4351357, Human molecular genetics, 2005, Tomatsu, Shunji et. al.

Altered expression of the WT1 wilms tumor suppressor gene in human breast cancer.
score: 4.4350599, Proceedings of the National Academy of Sciences of the United States of America, 1997, Silberstein, G B et. al.

Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data
score: 4.434311, The American Journal of Human Genetics, 2000, Colombo, Roberto

Sequence variation in the human dopamine transporter gene in children with attention deficit hyperactivity disorder
score: 4.4340074, Neuropharmacology, 2005, Mazei-Robison, Michelle S. et. al.

Metabolic myopathies: a clinical approach; part II
score: 4.4339544, Pediatric Neurology, 2000, Darras, Basil T; Friedman, Neil R

A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
score: 4.4330592, Proceedings of the National Academy of Sciences of the United States of America, 2007, Cao, Kan et. al.

SLURP-2, a novel member of the human Ly-6 superfamily that is up-regulated in psoriasis vulgaris ☆ ☆ Sequence data from this article have been deposited with the DDBJ/EMBL/GenBank Data Libraries under Accession No. AB081838.
score: 4.4328767, Genomics, 2003, Tsuji, Hitomi et. al.

Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene
score: 4.4324835, Gene, 2002, Blagoev, Blagoy et. al.

The genetics of glucose-6-phosphate dehydrogenase deficiency
score: 4.4321079, Seminars in Hematology, 1990, Beutler, Ernest

The human sideroflexin 5 ( SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3
score: 4.430685, Gene, 2002, Lockhart, Paul J. et. al.

Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
score: 4.4306221, Proceedings of the National Academy of Sciences of the United States of America, 1992, George, A L; Knittle, T J; Tamkun, M M

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis.
score: 4.430222, Proceedings of the National Academy of Sciences of the United States of America, 1999, Salter-Cid, L et. al.

Confirmation of a positive association between prostate cancer risk and a locus at chromosome 8q24.
score: 4.4294217, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2007, Suuriniemi, Miia et. al.

The LIM-only protein FHL2 interacts with β-catenin and promotes differentiation of mouse myoblasts
score: 4.4292783, The Journal of Cell Biology, 2002, Martin, Bernd et. al.

Requirement for the lpA1 lysophosphatidic acid receptor gene in normal suckling behavior.
score: 4.4291528, Proceedings of the National Academy of Sciences of the United States of America, 2000, Contos, J J; Fukushima, N; Weiner, J A; Kaushal, D; Chun, J

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
score: 4.4285547, European journal of human genetics : EJHG, 2004, Klevering, B Jeroen et. al.

The Involvement of DNA-Damage and -Repair Defects in Neurological Dysfunction
score: 4.4269141, The American Journal of Human Genetics, 2008, Kulkarni, Avanti; Wilson, David M.

A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes
score: 4.4261069, Genomics, 1990, Feil, R.; Aubourg, P.; Heilig, R.; Mandel, J.L.

Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes
score: 4.4258808, The Journal of Pediatrics, 2009, Hamvas, Aaron et. al.

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.
score: 4.4250801, Cancer research, 2004, Salhi, Aicha et. al.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
score: 4.4246201, European journal of human genetics : EJHG, 2009, Tuysuz, Beyhan et. al.

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
score: 4.4237662, Proceedings of the National Academy of Sciences of the United States of America, 2005, Mani, Arya et. al.

Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA
score: 4.4231953, Experimental Eye Research, 1990, Cotran, Paul R. et. al.

Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II.
score: 4.422919, Genetics, 2003, Graw, Jochen; Pretsch, Walter; Löster, Jana

A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene.
score: 4.4228239, Transfusion, 2011, Tian, Li; Song, Ning; Yao, Zhi-Qiang; Huang, Mei; Hou, Li

Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination
score: 4.4219193, Best Practice & Research Clinical Endocrinology & Metabolism, 2007, Refetoff, Samuel; Dumitrescu, Alexandra M.

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
score: 4.4216623, British journal of haematology, 2000, Casaña, P et. al.

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
score: 4.4198907, The Lancet, 1995, Barrett, T.G; Bundey, S.E; Macleod, A.F

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
score: 4.4196588, Human mutation, 1998, Scott, D A et. al.

A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy
score: 4.4196155, Neuromuscular Disorders, 1998, van der Kooi, A.J et. al.

A Multigene Family Encoding a Diverse Array of Putative Pheromone Receptors in Mammals
score: 4.4188924, Cell, 1997, Matsunami, Hiroaki; Buck, Linda B

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
score: 4.4187554, Journal of human genetics, 2010, Numata, Sanae et. al.

Cloning and characterization of a testis and brain-specific isoform of mouse 3 ′-phosphoinositide-dependent protein kinase-1, mPDK-1β
score: 4.4175103, Biochemical and Biophysical Research Communications, 2002, Dong, Lily Q. et. al.

The C1orf9 Gene Encodes a Putative Transmembrane Member of a Novel Protein Family
score: 4.4157706, Biochemical and Biophysical Research Communications, 2000, Røsok, Øystein et. al.

SUMO-1 Protease-1 Regulates Gene Transcription through PML
score: 4.415573, Molecular Cell, 2002, Best, Jennifer L. et. al.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
score: 4.4152889, Neuromuscular Disorders, 1996, Hosler, Betsy A. et. al.

RIM Binding Proteins (RBPs) Couple Rab3-Interacting Molecules (RIMs) to Voltage-Gated Ca 2+ Channels
score: 4.4145477, Neuron, 2002, Hibino, H. et. al.

Molecular cloning and characterization of the mouse histone deacetylase 1 gene: integration of a retrovirus in 129SV mice
score: 4.4140626, BBA - Gene Structure and Expression, 1999, Khier, Harald et. al.

Identification of a Role for the ARHGEF3 Gene in Postmenopausal Osteoporosis
score: 4.4129024, The American Journal of Human Genetics, 2008, Mullin, Ben H. et. al.

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain
score: 4.4127536, Molecular and Cellular Endocrinology, 2005, Salameh, W. et. al.

The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA
score: 4.4121399, The American Journal of Human Genetics, 1998, White, Wendy M. et. al.

CNS young investigator award lecture: Molecular analysis of the neurofibromatosis 2 tumor suppressor
score: 4.411985, Brain and Development, 1995, MacCollin, Mia

Immune deficiency due to high copy numbers of an Ak beta transgene.
score: 4.4103948, Proceedings of the National Academy of Sciences of the United States of America, 1990, Gilfillan, S; Aiso, S; Michie, S A; McDevitt, H O

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
score: 4.4103872, Human mutation, 1998, Corden, L D et. al.

Differential expression of p16INK4a and p16beta transcripts in B-lymphoblastoid cells from members of hereditary melanoma families without CDKN2A exon mutations.
score: 4.4078716, Oncogene, 1997, Rizos, H; Becker, T M; Holland, E A; Kefford, R F; Mann, G J

Studies of type I collagen in osteogenesis imperfecta
score: 4.4077792, The Journal of Pediatrics, 1990, Edwards, Matthew J.; Graham, John M.

Analysis of candidate genes for macular telangiectasia type 2
score: 4.4074894, Molecular Vision, 2010, Parmalee, Nancy L. et. al.

The Wnt-1 ( int-1) proto-oncogene is required for development of a large region of the mouse brain
score: 4.4064618, Cell, 1990, McMahon, Andrew P.; Bradley, Allan

Biochemical characterization and intracellular localization of the Menkes disease protein.
score: 4.4053908, Proceedings of the National Academy of Sciences of the United States of America, 1996, Yamaguchi, Y; Heiny, M E; Suzuki, M; Gitlin, J D

Leber’s hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families
score: 4.4052067, Biochemical and Biophysical Research Communications, 2006, Zhou, Xiangtian et. al.

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
score: 4.4045998, Nature genetics, 2008, Blewitt, Marnie E et. al.

Human cystinuria-related transporter: localization and functional characterization.
score: 4.404425, Kidney international, 2001, Mizoguchi, K et. al.

“High Density SNP Association Study of the 17q21 Chromosomal Region Linked to Autism Identifies CACNA1G as a Novel Candidate Gene”
score: 4.4033009, Molecular psychiatry, 2009, Strom, Samuel P. et. al.

Syndromes associated with Homo sapiens Pol II regulatory genes
score: 4.4027282, Progress in Nucleic Acid Research and Molecular Biology, 2000, Bina, Minou; Demmon, Sarah; Pares-Matos, Elsie I.

Molecular cloning and biological characterization of the human excision repair gene ERCC-3.
score: 4.4021672, Molecular and cellular biology, 1990, Weeda, G et. al.

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene
score: 4.4004549, Molecular Vision, 2007, Li, Xiaoxin; Ma, Xiang; Tao, Yong

Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency
score: 4.4002655, Thrombosis Research, 2002, Tsuda, Hiroko et. al.

At Least Ten Genes Define the Imprinted Dlk1-Dio3 Cluster on Mouse Chromosome 12qF1
score: 4.3997534, PLoS ONE, 2009, Hagan, John P. et. al.

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
score: 4.3989707, Molecular Vision, 2009, Riazuddin, S. Amer et. al.

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31
score: 4.398192, Biochemical and Biophysical Research Communications, 2008, Liu, Jing Yu et. al.

Construction of an Integrated Physical and Gene Map of Human Chromosome 20p12 Providing Candidate Genes for Alagille Syndrome
score: 4.3980767, Genomics, 1997, Pollet, Nicolas et. al.

Cell regulation
score: 4.3977129, Current Opinion in Cell Biology, 1997,

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
score: 4.397618, The EMBO journal, 2007, Hirano, Ryuki et. al.

Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice.
score: 4.3962094, Proceedings of the National Academy of Sciences of the United States of America, 2003, Klebig, Mitchell L et. al.

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.
score: 4.3955414, Kidney international, 1999, Nakazato, H et. al.

Molecular cloning and functional characterization of mouse Nxf family gene products
score: 4.3954166, Genomics, 2005, Sasaki, Mitsuho et. al.

A Novel Putative Transporter Maps to the Osteosclerosis ( oc) Mutation and Is Not Expressed in the ocMutant Mouse
score: 4.394943, Genomics, 1999, Brady, Kevin P et. al.

Alternative splicing of the human proto-oncogene c-H-ras renders a new Ras family protein that trafficks to cytoplasm and nucleus.
score: 4.3944453, Cancer research, 2003, Guil, Sònia et. al.

Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1
score: 4.3941063, Molecular Vision, 2008, Deng, Ting et. al.

Molecular genetic basis of primary inherited optic neuropathies.
score: 4.3931258, Eye (London, England), 2004, Votruba, M

Gene organization and evolution
score: 4.3921082, Current Opinion in Genetics & Development, 1991,

A novel mouse kinesin of the UNC-104/KIF1 subfamily encoded by the Kif1b gene
score: 4.3917133, Gene, 1999, Gong, Tzy-Wen L. et. al.

Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic
score: 4.3904363, Atherosclerosis, 2007, Tosi, Isabella et. al.

Representational difference analysis, high-resolution physical mapping, and transcript identification of the zebrafish genomic region for a motor behavior
score: 4.3900971, Genomics, 2003, Sato, Tomomi; Mishina, Masayoshi

Essential role for p38alpha mitogen-activated protein kinase in placental angiogenesis.
score: 4.3895679, Proceedings of the National Academy of Sciences of the United States of America, 2000, Mudgett, J S et. al.

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
score: 4.3878086, Human mutation, 1996, Koivisto, U M; Kontula, K

Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
score: 4.3869034, Cancer research, 1996, Unden, A B et. al.

Molecular genetic markers spanning mouse chromosome 10
score: 4.3860353, Genomics, 1990, Kozak, C.A. et. al.

Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
score: 4.3860086, Human mutation, 1992, Gandrille, S et. al.

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
score: 4.3851313, Muscle & nerve, 2008, Kim, Hyun Y et. al.

Developmental disorder associated with increased cellular nucleotidase activity.
score: 4.3848125, Proceedings of the National Academy of Sciences of the United States of America, 1997, Page, T; Yu, A; Fontanesi, J; Nyhan, W L

Genomewide Scan for Familial Combined Hyperlipidemia Genes in Finnish Families, Suggesting Multiple Susceptibility Loci Influencing Triglyceride, Cholesterol, and Apolipoprotein B Levels
score: 4.3834939, The American Journal of Human Genetics, 1999, Pajukanta, Päivi et. al.

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
score: 4.3833747, American journal of medical genetics. Part A, 2007, Muschke, Petra et. al.

Functional Expression of Murine V2R Pheromone Receptors Involves Selective Association with the M10 and M1 Families of MHC Class Ib Molecules
score: 4.3832597, Cell, 2003, Loconto, Jennifer et. al.

Unexpected and variable phenotypes in a family with JAK3 deficiency.
score: 4.3831761, Genes and immunity, 2001, Frucht, D M et. al.

The roles of iron in health and disease
score: 4.3820281, Molecular Aspects of Medicine, 2001, Lieu, Pauline T. et. al.

Expression of murine cyclin B1 mRNAs and genetic mapping of related genomic sequences
score: 4.3818969, Genomics, 1992, Hanley-Hyde, Joan et. al.

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
score: 4.3813077, The American Journal of Human Genetics, 2012, Tesson, Christelle et. al.

Intestinal adenomas can develop with a stable karyotype and stable microsatellites.
score: 4.3808357, Proceedings of the National Academy of Sciences of the United States of America, 2002, Haigis, Kevin M et. al.

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families
score: 4.3806754, BBA - Molecular Basis of Disease, 1996, Cenarro, Ana et. al.

Immune-type receptor genes in zebrafish share genetic and functional properties with genes encoded by the mammalian leukocyte receptor cluster.
score: 4.3805191, Proceedings of the National Academy of Sciences of the United States of America, 2001, Yoder, J A et. al.

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.
score: 4.3803767, Molecular psychiatry, 2006, Blair, I P et. al.

A mutation within exon 14 of the TGFBI ( BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
score: 4.3792591, Ophthalmology, 1999, Stewart, Helen et. al.

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
score: 4.3791165, American Journal of Kidney Diseases, 2005, Consugar, Mark B. et. al.

In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.
score: 4.3784559, Proceedings of the National Academy of Sciences of the United States of America, 1999, Manning, K; Al-Dhalimy, M; Finegold, M; Grompe, M

A novel gene, tendin, is strongly expressed in tendons and ligaments and shows high homology with chondromodulin-I.
score: 4.3783546, Developmental dynamics : an official publication of the American Association of Anatomists, 2001, Brandau, O; Meindl, A; Fässler, R; Aszódi, A

52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart
score: 4.378004, The Journal of Experimental Medicine, 1995,

T-box genes in development: From hydra to humans
score: 4.3776593, International Review of Cytology, 2001, Papaioannou, Virginia E.

Crystallin gene mutations in Indian families with inherited pediatric cataract
score: 4.3763579, Molecular Vision, 2008, Devi, Ramachandran Ramya et. al.

Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas.
score: 4.3755157, Proceedings of the National Academy of Sciences of the United States of America, 2001, Weterman, M A et. al.

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.
score: 4.3754971, Proceedings of the National Academy of Sciences of the United States of America, 1996, Goldberg, A F; Molday, R S

Partial biotinidase deficiency: Clinical and biochemical features
score: 4.3750971, The Journal of Pediatrics, 1990, Secor McVoy, Julie R. et. al.

Partial biotinidase deficiency: Clinical and biochemical features
score: 4.3750971, The Journal of Pediatrics, 1990, Secor McVoy, Julie R. et. al.

PAM14, a novel MRG- and Rb-associated protein, is not required for development and T-cell function in mice.
score: 4.3750837, Molecular and cellular biology, 2004, Tominaga, Kaoru et. al.

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.
score: 4.3749168, Annals of neurology, 2001, Hilker, R et. al.

Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.
score: 4.3743739, Proceedings of the National Academy of Sciences of the United States of America, 2008, Tan, Cheryl C et. al.

Characterization of Sam68-like mammalian proteins SLM-1 and SLM-2: SLM-1 is a Src substrate during mitosis.
score: 4.3742196, Proceedings of the National Academy of Sciences of the United States of America, 1999, Di Fruscio, M; Chen, T; Richard, S

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
score: 4.3741116, Annals of neurology, 2003, van Herpen, Esther et. al.

Human homolog of the mouse sperm receptor.
score: 4.373312, Proceedings of the National Academy of Sciences of the United States of America, 1990, Chamberlin, M E; Dean, J

Maternally inherited hypertension is associated with the mitochondrial tRNA Ile A4295G mutation in a Chinese family
score: 4.3712313, Biochemical and Biophysical Research Communications, 2008, Li, Zongbin et. al.

CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome.
score: 4.3708624, Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 1997, Legare, R D et. al.

Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28
score: 4.3703499, Genomics, 1992, Consalez, G.Giacomo et. al.

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
score: 4.3698708, American journal of medical genetics. Part A, 2010, Zajac, Allison et. al.

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
score: 4.3691692, Molecular and cellular biology, 2004, Duan, Zhijun et. al.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
score: 4.3690524, European journal of human genetics : EJHG, 2012, Tuppen, Helen A L et. al.

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
score: 4.3688399, Clinical genetics, 2011, Carter, M T et. al.

Cloning and functional analysis of human mTERFL encoding a novel mitochondrial transcription termination factor-like protein
score: 4.3684446, Biochemical and Biophysical Research Communications, 2005, Chen, Yao et. al.

A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)
score: 4.3679086, Annals of neurology, 2000, Yasuda, M et. al.

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
score: 4.3673099, Molecular Genetics and Metabolism, 2005, Isackson, Paul J. et. al.

SPC4, SPC6, and the novel protease SPC7 are coexpressed with bone morphogenetic proteins at distinct sites during embryogenesis
score: 4.3672297, The Journal of Cell Biology, 1996,

Genetics and pathological mechanisms of Usher syndrome.
score: 4.3668532, Journal of human genetics, 2010, Yan, Denise; Liu, Xue Z

A testis-specific and testis developmentally regulated tumor protein D52 (TPD52)-like protein TPD52L3/hD55 interacts with TPD52 family proteins
score: 4.3666164, Biochemical and Biophysical Research Communications, 2006, Cao, Qinhong et. al.

Adenovirus ADP protein (E3-11.6K), which is required for efficient cell lysis and virus release, interacts with human MAD2B
score: 4.3658326, Virology, 2003, Ying, Baoling; Wold, William S.M

Diagnosis and management of early- and late-onset cerebellar ataxia.
score: 4.3657756, Clinical genetics, 2007, Brusse, E; Maat-Kievit, J A; van Swieten, J C

Orai proteins interact with TRPC channels and confer responsiveness to store depletion.
score: 4.3645337, Proceedings of the National Academy of Sciences of the United States of America, 2007, Liao, Yanhong et. al.

Making the diagnosis of Alport's syndrome.
score: 4.3643415, Kidney international, 1999, Pirson, Y

Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing
score: 4.3635156, American Journal of Kidney Diseases, 1999, Inoue, Yuji et. al.

Mini-Oct and Oct-2c: Two novel, functionally diverse murine Oct-2 gene products are differentially expressed in the CNS
score: 4.3630179, Neuron, 1992, Stoykova, A.S. et. al.

An alternative non-tyrosine protein kinase product of the c-src gene in chicken skeletal muscle.
score: 4.3622186, Molecular and cellular biology, 1990, Dorai, T; Wang, L H

Non-synonymous variants in the AMACR gene are associated with schizophrenia
score: 4.3618033, Schizophrenia Research, 2010, Bespalova, Irina N. et. al.

Molecular cloning of the murine BP-1/6C3 antigen: a member of the zinc-dependent metallopeptidase family.
score: 4.3607254, Proceedings of the National Academy of Sciences of the United States of America, 1990, Wu, Q; Lahti, J M; Air, G M; Burrows, P D; Cooper, M D

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: Identification of three novel mutations of the FM03 gene
score: 4.3597176, Molecular Genetics and Metabolism, 2006, Teresa, Esposito et. al.

Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice.
score: 4.3594143, Molecular and cellular biology, 2008, Wang, Pengfei et. al.

A Calcineurin-Dependent Transcriptional Pathway for Cardiac Hypertrophy
score: 4.3591824, Cell, 1998, Molkentin, Jeffery D et. al.

A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family ( Pdgfra, Kit, and Flk1) on mouse chromosome 5
score: 4.3586404, Genomics, 1995, Brunkow, Mary E. et. al.

Molecular cloning and characterization of a novel cystatin-like molecule, CLM, from human bone marrow stromal cells
score: 4.3581604, Biochemical and Biophysical Research Communications, 2003, Sun, Hongying et. al.

Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.
score: 4.3572048, Proceedings of the National Academy of Sciences of the United States of America, 1998, Miller, A P; Willard, H F

Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia
score: 4.357176, Atherosclerosis, 1998, Arca, Marcello; Jokinen, Eero

Identification and characterization of a mouse homologue of the Spinal Muscular Atrophy-determining gene, survival motor neuron
score: 4.3570741, Gene, 1997, Bergin, Ann et. al.

Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation
score: 4.3561323, The American Journal of Human Genetics, 2000, López-Bigas, N. et. al.

Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2
score: 4.3561264, BBA - Molecular and Cell Biology of Lipids, 1999, Walkey, Christopher J.; Shields, David J.; Vance, Dennis E.

Genomes and evolution
score: 4.3560806, Current Opinion in Genetics & Development, 1997,

Pyruvate kinase deficiency
score: 4.3555072, Clinical Biochemistry, 1990, Miwa, S.; Fujii, H.

Molecular structure and characterization of a novel murine ABC transporter, Abca13
score: 4.35365, Gene, 2003, Barros, Scott A.; Tennant, Raymond W.; Cannon, Ronald E.

ORAI1 deficiency and lack of store-operated Ca 2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
score: 4.3534437, The Journal of Allergy and Clinical Immunology, 2009, McCarl, Christie-Ann et. al.

A Family Based Linkage Analysis of HLA and 5-HTTLPR Gene Polymorphisms in Sardinian Children with Autism Spectrum Disorder
score: 4.3517656, Human Immunology, 2006, Guerini, Franca R. et. al.

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.
score: 4.3517506, Journal of human genetics, 2011, Kral, Brian G et. al.

Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter
score: 4.3513361, Genomics, 2005, Pannetier, Maëlle et. al.

Construction of a Gene Map of the Nephronophthisis Type 1 ( NPHP1) Region on Human Chromosome 2q12–q13
score: 4.3509812, Genomics, 1998, Nothwang, Hans Gerd et. al.

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred
score: 4.3504554, Molecular Genetics and Metabolism, 2004, Landau, D et. al.

Murine model ( Galns tm( C76S) slu ) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins
score: 4.3497554, Molecular Genetics and Metabolism, 2007, Tomatsu, Shunji et. al.

Identification and expression of the gene for human ataxin-2-related protein on chromosome 16
score: 4.3494002, Experimental Neurology, 2003, Figueroa, Karla P; Pulst, Stefan M

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
score: 4.3490622, Proceedings of the National Academy of Sciences of the United States of America, 2011, Pak, Changhui et. al.

Mendelian Inheritance in Man and Its Online Version, OMIM
score: 4.3486257, The American Journal of Human Genetics, 2007, McKusick, Victor A.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
score: 4.3483039, Journal of human genetics, 2010, Komatsuzaki, Shoko et. al.

Identification and characterization of five-transmembrane isoforms of human vasoactive intestinal peptide and pituitary adenylate cyclase-activating polypeptide receptors
score: 4.3482825, Genomics, 2006, Bokaei, Payman Baradar et. al.

A novel deletion in progranulin gene is associated with FTDP-17 and CBS
score: 4.3473974, Neurobiology of Aging, 2008, Benussi, Luisa et. al.

Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein.
score: 4.3467579, Molecular and cellular biology, 2000, Wan, L; Dockendorff, T C; Jongens, T A; Dreyfuss, G

An interaction between {alpha}v{beta}8 integrin and Band 4.1B via a highly conserved region of the Band 4.1 C-terminal domain.
score: 4.3465442, Proceedings of the National Academy of Sciences of the United States of America, 2005, McCarty, Joseph H; Cook, Aaron A; Hynes, Richard O

A functional c- myb gene is required for normal murine fetal hepatic hematopoiesis
score: 4.3459427, Cell, 1991, Mucenski, Michael L. et. al.

Gene organization, evolution and expression of the microtubule-associated protein ASAP (MAP9)
score: 4.3455506, BMC Genomics, 2008, Venoux, Magali et. al.

Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A
score: 4.3454081, Genomics, 1990, Norum, Robert A. et. al.

Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene
score: 4.345226, Gastroenterology, 2007, Torgerson, Troy R. et. al.

Structural characterization and chromosomal localization of the mouse cDNA and gene encoding the bone tyrosine phosphatase, mOST-PTP
score: 4.3451705, Gene, 2000, Morrison, Daniel F.; Mauro, Laura J.

Identification and characterization of a novel surface antigen gene induced in mast cells activated through the high affinity IgE receptor.
score: 4.3447703, Journal of immunology (Baltimore, Md. : 1950), 1995, Pirozzi, G; Terry, R W; Epstein, D; Labow, M A

PP2A-Bgamma subunit and KCNQ2 K+ channels in bipolar disorder.
score: 4.3444092, The pharmacogenomics journal, 2007, Borsotto, M et. al.

GC box binding induces phosphorylation of Sp1 by a DNA-dependent protein kinase
score: 4.3442013, Cell, 1990, Jackson, Stephen P. et. al.

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss
score: 4.3440711, Biochemical and Biophysical Research Communications, 2005, Melchionda, Salvatore et. al.

Smad1 and Smad8 function similarly in mammalian central nervous system development.
score: 4.3435525, Molecular and cellular biology, 2005, Hester, Mark et. al.

GLYCOGEN STORAGE MYOPATHIES
score: 4.3432383, Neurologic Clinics, 2000, Tsujino, Seiichi; Nonaka, Ikuya; DiMauro, Salvatore

Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder.
score: 4.3425093, Molecular psychiatry, 2006, Pickard, B S et. al.

Gs(alpha) mutations and imprinting defects in human disease.
score: 4.3422855, Annals of the New York Academy of Sciences, 2002, Weinstein, Lee S; Chen, Min; Liu, Jie

Regulation of Nuclear Receptor Activity by a Pseudouridine Synthase through Posttranscriptional Modification of Steroid Receptor RNA Activator
score: 4.3418252, Molecular Cell, 2004, Zhao, Xiansi et. al.

Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia
score: 4.3408122, Archives of Oral Biology, 2008, Xuan, Kun et. al.

The genetic basis of triple A (Allgrove) syndrome in a Greek family
score: 4.3401522, Gene, 2013, Papageorgiou, Labrini et. al.

Rare causes of hereditary iron overload
score: 4.3399403, Seminars in Hematology, 2002, Ponka, Prem

Acquired, nonrandom chromosomal abnormalities associated with the development of acute promyelocytic leukemia in transgenic mice.
score: 4.3394726, Proceedings of the National Academy of Sciences of the United States of America, 2000, Zimonjic, D B et. al.

Mutation in the class II trans-activator leading to a mild immunodeficiency.
score: 4.3384264, Journal of immunology (Baltimore, Md. : 1950), 2001, Wiszniewski, W et. al.

Type 1 angiotensin II receptor-associated protein ARAP1 binds and recycles the receptor to the plasma membrane
score: 4.3375442, Biochemical and Biophysical Research Communications, 2003, Guo, Deng-Fu et. al.

Hereditary epilepsy syndromes
score: 4.3370447, Clinical Neurology and Neurosurgery, 1997, Callenbach, Petra M.C.; Brouwer, Oebele F.

Evolutionary Divergence of the Mouse and Human Lgn1/SMA Repeat Structures
score: 4.3361008, Genomics, 2000, Growney, Joseph D. et. al.

Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk
score: 4.3358845, Nature, 2011,

Molecular cloning and characterization of alternatively spliced transcripts of the mouse neurofibromatosis 2 gene.
score: 4.3356492, Cancer research, 1994, Hara, T; Bianchi, A B; Seizinger, B R; Kley, N

Molecular screening and association studies of retinoid-related orphan receptor γ (RORC): a positional and functional candidate for type 2 diabetes
score: 4.335606, Molecular Genetics and Metabolism, 2003, Wang, Hua et. al.

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala 619 in β-glucuronidase with Val
score: 4.3345946, Gene, 1990, Tomatsu, Shunji et. al.

Mrvi1, a common MRV integration site in BXH2 myeloid leukemias, encodes a protein with homology to a lymphoid-restricted membrane protein Jaw1.
score: 4.3344134, Oncogene, 1999, Shaughnessy, J D et. al.

The amphiregulin gene encodes a novel epidermal growth factor-related protein with tumor-inhibitory activity.
score: 4.3340513, Molecular and cellular biology, 1990, Plowman, G D et. al.

Development of an epithelium-specific expression cassette with human DNA regulatory elements for transgene expression in lung airways.
score: 4.3333201, Proceedings of the National Academy of Sciences of the United States of America, 1997, Chow, Y H et. al.

Talin 2 is a large and complex gene encoding multiple transcripts and protein isoforms.
score: 4.3325087, The FEBS journal, 2009, Debrand, Emmanuel et. al.

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma
score: 4.3325001, Molecular Vision, 2010, Zhao, Xin et. al.

RNA binding motif (RBM) proteins: a novel family of apoptosis modulators?
score: 4.3323158, Journal of cellular biochemistry, 2005, Sutherland, Leslie C et. al.

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
score: 4.3322671, BMC Medical Genetics, 2005, Zakharova, Faina M et. al.

Sequence variation in the human angiotensin converting enzyme.
score: 4.3318739, Nature genetics, 1999, Rieder, M J; Taylor, S L; Clark, A G; Nickerson, D A

ALK, the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK)
score: 4.3303758, Oncogene, 1997, Morris, S W et. al.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
score: 4.3301179, Proceedings of the National Academy of Sciences of the United States of America, 2009, de Pontual, Loïc et. al.

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
score: 4.3299326, Neuromuscular Disorders, 2003, Schmidt, Carolin et. al.

Cloning, Characterization, and Mapping of the Mouse Homeobox Gene Hmx1
score: 4.3295567, Genomics, 1998, Yoshiura, Koh-ichiro et. al.

The zebrafish band 4.1 member Mir is involved in cell movements associated with gastrulation
score: 4.3290268, Developmental Biology, 2003, Knowlton, Michelle N; Chan, Bosco M.C; Kelly, Gregory M

The gene for the human interleukin-11 receptor alpha chain locus is highly homologous to the murine gene and contains alternatively spliced first exons
score: 4.3289886, International Journal of Biochemistry and Cell Biology, 1997, Nandurkar, Harshal H. et. al.

Identification and characterization of G90, a novel mouse RNA that lacks an extensive open reading frame
score: 4.3283548, Gene, 1999, Krause, Ralf et. al.

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients
score: 4.3280425, Hearing Research, 2005, Dalamón, Viviana et. al.

Nucleus and gene expression
score: 4.3276239, Current Opinion in Cell Biology, 1997,

Huntingtin interacting protein 1 Is a clathrin coat binding protein required for differentiation of late spermatogenic progenitors.
score: 4.3275672, Molecular and cellular biology, 2001, Rao, D S et. al.

Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.
score: 4.326586, Proceedings of the National Academy of Sciences of the United States of America, 2003, Mochizuki, Yasuhiro; Majerus, Philip W

Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signaling.
score: 4.3256462, Proceedings of the National Academy of Sciences of the United States of America, 2011, Beirowski, Bogdan et. al.

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations
score: 4.3256169, Molecular Vision, 2011, Li, Lin et. al.

Evi-2, a common integration site involved in murine myeloid leukemogenesis.
score: 4.3254372, Molecular and cellular biology, 1990, Buchberg, A M; Bedigian, H G; Jenkins, N A; Copeland, N G

Mouse fatty acid transport protein 4 (FATP4): Characterization of the gene and functional assessment as a very long chain acyl-CoA synthetase
score: 4.3249357, Gene, 2001, Herrmann, Thomas et. al.

A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
score: 4.3246974, American Journal of Ophthalmology, 1999, Zhang, Kang et. al.

Mutations in the multidomain protein MEGF8 identify a subtype of Carpenter syndrome associated with defective lateralization
score: 4.3246276, The American Journal of Human Genetics, 2012, Twigg, Stephen R.F. et. al.

Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.
score: 4.3232478, Human molecular genetics, 2006, Thomas, Patrick S et. al.

Natural resistance to infection with intracellular parasites: molecular genetics identifies Nramp1 as the Bcg/Ity/Lsh locus.
score: 4.3228047, Journal of leukocyte biology, 1995, Vidal, S; Gros, P; Skamene, E

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin
score: 4.3227016, Neuron, 1997, Garbern, James Y et. al.

Cloning and characterization of a third type of human α-amylase gene, AMY2B
score: 4.3222798, Gene, 1990, Yokouchi, Hideoki et. al.

The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia.
score: 4.3218691, Molecular psychiatry, 2007, Roig, B et. al.

Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation.
score: 4.3216994, Molecular and cellular biology, 2003, Muller, Alexander J et. al.

Characterization of chromosome 9 in human ovarian neoplasia identifies frequent genetic imbalance on 9q and rare alterations involving 9p, including CDKN2.
score: 4.3213148, Cancer research, 1995, Schultz, D C et. al.

The cardiac β-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population
score: 4.3211185, Journal of the American College of Cardiology, 1998, Jääskeläinen, Pertti et. al.

The cardiac β-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population
score: 4.3211185, Journal of the American College of Cardiology, 1998, Jääskeläinen, Pertti et. al.

Regulation of Cdc42 Gtpase by Proline-Rich Tyrosine Kinase 2 Interacting with Psgap, a Novel Pleckstrin Homology and Src Homology 3 Domain Containing Rhogap Protein
score: 4.3209523, The Journal of Cell Biology, 2001, Ren, Xiu-Rong et. al.

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
score: 4.3198094, The Journal of investigative dermatology, 2007, Lesueur, Fabienne et. al.

Melanoma antigen gene protein MAGE-11 regulates androgen receptor function by modulating the interdomain interaction.
score: 4.3198003, Molecular and cellular biology, 2005, Bai, Suxia; He, Bin; Wilson, Elizabeth M

Novel point mutations in the dystrophin gene.
score: 4.3185434, Human mutation, 1997, Sitnik, R et. al.

X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects
score: 4.3184087, BBA - Molecular Cell Research, 2006, Berger, Johannes; Gärtner, Jutta

TRAF5, a novel tumor necrosis factor receptor-associated factor family protein, mediates CD40 signaling.
score: 4.3182714, Proceedings of the National Academy of Sciences of the United States of America, 1996, Ishida, T K et. al.

Molecular analysis of deletions in the human β-globin gene cluster: Deletion junctions and locations of breakpoints
score: 4.3182527, Genomics, 1990, Henthorn, Paula S.; Smithies, Oliver; Mager, Dixie L.

Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
score: 4.3179211, Journal of Electrocardiology, 2007, Meyer, Thomas et. al.

The ETO ( MTG8) gene family
score: 4.3172658, Gene, 2003, Davis, J.Nathan; McGhee, Laura; Meyers, Shari

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations
score: 4.3169778, Molecular and Cellular Endocrinology, 2010, Montanelli, Lucia; Tonacchera, Massimo

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
score: 4.3168058, Genomics, 2012, Cabral, Rita M. et. al.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
score: 4.3120232, British Journal of Cancer, 1994, Prosser, J. et. al.

ABC A-subfamily transporters: Structure, function and disease
score: 4.3115524, BBA - Molecular Basis of Disease, 2006, Kaminski, Wolfgang E.; Piehler, Armin; Wenzel, Jürgen J.

Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk
score: 4.3111783, Immunity, 1995, Liao, X.Charlene; Littman, Dan R.

Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia
score: 4.3092928, Gene, 1998, Zhang, Qi et. al.

Atrophin-1, the Dentato-Rubral and Pallido-Luysian Atrophy Gene Product, Interacts with Eto/Mtg8 in the Nuclear Matrix and Represses Transcription
score: 4.3089274, The Journal of Cell Biology, 2000, Wood, Jonathan D. et. al.

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
score: 4.3085494, Human molecular genetics, 2013, Slavotinek, Anne M et. al.

Gene trap disruption of the mouse heparan sulfate 6-O-endosulfatase gene, Sulf2.
score: 4.3082572, Molecular and cellular biology, 2007, Lum, David H; Tan, Jenille; Rosen, Steven D; Werb, Zena

Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency
score: 4.3079251, The Lancet, 1993, Zambon, A. et. al.

Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease
score: 4.3077371, Neuron, 2005, Monani, Umrao R.

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
score: 4.3073611, Genomics, 2005, Boyadjiev, Simeon A. et. al.

A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2
score: 4.307202, Genetic Analysis: Biomolecular Engineering, 1996, Lautenschlager, Nicola T. et. al.

Positional Cloning Identifies Zebrafish one-eyed pinhead as a Permissive EGF-Related Ligand Required during Gastrulation
score: 4.3067862, Cell, 1998, Zhang, Jiaojiao; Talbot, William S.; Schier, Alexander F.

The protein Id: A negative regulator of helix-loop-helix DNA binding proteins
score: 4.3063786, Cell, 1990, Benezra, Robert et. al.

Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype
score: 4.3062335, Atherosclerosis, 2009, Baass, Alexis et. al.

A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
score: 4.3059031, Clinical endocrinology, 2004, Tatsumi, Ke-Ita et. al.

A Genome Screen of Multiplex Sibships with Prostate Cancer
score: 4.3051366, The American Journal of Human Genetics, 2000, Suarez, Brian K. et. al.

Identification and chromosomal localization of a processed pseudogene of human GRK6
score: 4.3044802, Gene, 1997, Gagnon, Alison W; Benovic, Jeffrey L

Cloning of a novel murine gene Sfmbt, Scm-related gene containing four mbt domains, structurally belonging to the Polycomb group of genes
score: 4.3044339, Gene, 2000, Usui, Hiroshi et. al.

A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.
score: 4.3042163, Acta neurologica Scandinavica, 2002, Namekawa, M et. al.

Characterization of the Human Talin ( TLN) Gene: Genomic Structure, Chromosomal Localization, and Expression Pattern
score: 4.3042004, Genomics, 1999, Ben-Yosef, Tamar; Francomano, Clair A.

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences
score: 4.303633, Genomics, 1990, Buiting, Karin et. al.

The mouse Zac1 locus: basis for imprinting and comparison with human ZAC
score: 4.3036185, Gene, 2002, Smith, Rachel J. et. al.

Familial Mediterranean fever--a review.
score: 4.3029693, Genetics in medicine : official journal of the American College of Medical Genetics, 2011, Shohat, Mordechai; Halpern, Gabrielle J

The CBFβ Subunit Is Essential for CBFα2 (AML1) Function In Vivo
score: 4.3028514, Cell, 1996, Wang, Qing et. al.

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
score: 4.3027517, Human mutation, 2011, Lepri, Francesca et. al.

Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.
score: 4.3025613, Development (Cambridge, England), 2010, Zhou, Yunli et. al.

Pax: Genes for mice and men
score: 4.3023057, Pharmacology and Therapeutics, 1994, Tremblay, Patrick; Gruss, Peter

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
score: 4.3022411, Human mutation, 2001, Liguori, R et. al.

Characterization of the type I interferon locus and identification of novel genes
score: 4.3016033, Genomics, 2004, Hardy, Matthew P. et. al.

cDNA subtraction cloning reveals novel genes whose temporal and spatial expression indicates association with trophoblast invasion
score: 4.3013328, Developmental Biology, 2000, Hemberger, Myriam et. al.

rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina.
score: 4.3012768, Proceedings of the National Academy of Sciences of the United States of America, 1997, Furukawa, T; Kozak, C A; Cepko, C L

Control of sex development
score: 4.3010472, Best Practice & Research Clinical Endocrinology & Metabolism, 2010, Biason-Lauber, Anna

Transposition of RhoAto the Murine Y Chromosome
score: 4.3001944, Genomics, 1998, Boettger-Tong, Holly L. et. al.

Neuropilin-2, a Novel Member of the Neuropilin Family, Is a High Affinity Receptor for the Semaphorins Sema E and Sema IV but Not Sema III
score: 4.3001153, Neuron, 1997, Chen, Hang et. al.

PGK deficiency.
score: 4.2996369, British journal of haematology, 2007, Beutler, Ernest

Targeted Deletion of the PEX2 Peroxisome Assembly Gene in Mice Provides a Model for Zellweger Syndrome, a Human Neuronal Migration Disorder
score: 4.2994601, The Journal of Cell Biology, 1997, Faust, Phyllis L.; Hatten, Mary E.

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene
score: 4.2980291, Journal of the Neurological Sciences, 2004, Lee, Eun Sil et. al.

Genetics of disease
score: 4.2966497, Current Opinion in Genetics & Development, 1991,

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
score: 4.2963621, The Journal of investigative dermatology, 2004, Jan, Amy Y et. al.

Neonatal metabolic myopathies
score: 4.2957825, Seminars in Perinatology, 1999, Tein, Ingrid

Detection of a polymorphism within the pepsinogen C gene with PCR: Construction of a linkage map around PGC from 6p11–6p21.3
score: 4.294811, Genomics, 1992, Bowcock, Anne M. et. al.

The novel mouse microphthalmia mutations Mitf mi-enu5 and Mitf mi-bcc2 produce dominant negative Mitf proteins
score: 4.2944731, Genomics, 2004, Hansdottir, Adalheidur Gı́ et. al.

Mutation of the atrophin2 gene in the zebrafish disrupts signaling by fibroblast growth factor during development of the inner ear.
score: 4.2943729, Proceedings of the National Academy of Sciences of the United States of America, 2006, Asai, Yukako et. al.

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.
score: 4.2936312, Human mutation, 2002, Resta, N et. al.

Human genome search in celiac disease using gliadin cDNA as probe 1 1 Edited by J. Karn
score: 4.2925811, Journal of Molecular Biology, 2000, Kumar, Rajesh et. al.

A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3
score: 4.2924522, Genomics, 2004, Shibuya, Kazunori et. al.

Tumor necrosis factor receptor-associated factor (TRAF)-1, TRAF-2, and TRAF-3 interact in vivo with the CD30 cytoplasmic domain; TRAF-2 mediates CD30-induced nuclear factor kappa B activation.
score: 4.2920923, Proceedings of the National Academy of Sciences of the United States of America, 1996, Ansieau, S et. al.

A logical approach to the investigation of red cell enzymopathies
score: 4.2918464, Blood Reviews, 1990, Lestas, A.N.; Bellingham, A.J.

Impaired glucose tolerance in mice with a targeted impairment of insulin action in muscle and adipose tissue.
score: 4.2908537, Nature genetics, 1998, Lauro, D et. al.

Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21
score: 4.2905576, Journal of the Neurological Sciences, 1994, Figlewicz, D.A. et. al.

Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.
score: 4.2897637, Pediatric research, 1996, Tajima, T et. al.

Mapping human X-linked genes in the phalangerid marsupial Trichosurus vulpecula
score: 4.2897587, Genomics, 1992, McKay, Lynne M. et. al.

Loss of heterozygosity at chromosome 1q22 in basal cell carcinomas and exclusion of the basal cell nevus syndrome gene from this site.
score: 4.2897034, Cancer research, 1992, Bare, J W; Lebo, R V; Epstein, E H

A MHC-encoded ubiquitin-like protein (FAT10) binds noncovalently to the spindle assembly checkpoint protein MAD2.
score: 4.2895887, Proceedings of the National Academy of Sciences of the United States of America, 1999, Liu, Y C et. al.

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del)
score: 4.2894118, BBA - Molecular Basis of Disease, 1997, Hong, Young Soo et. al.

The mouse frizzy (fr) and rat 'hairless' (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8).
score: 4.2889983, Experimental dermatology, 2010, Spacek, Damek V et. al.

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
score: 4.2884216, Genes, brain, and behavior, 2007, Kumar, R A et. al.

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
score: 4.2876603, Journal of human genetics, 1999, Nakamura, A et. al.

XMCM7, a novel member of the Xenopus MCM family, interacts with XMCM3 and colocalizes with it throughout replication.
score: 4.2875216, Proceedings of the National Academy of Sciences of the United States of America, 1996, Romanowski, P; Madine, M A; Laskey, R A

Dystrophin in the retina
score: 4.2871426, Progress in Neurobiology, 1997, Schmitz, Frank; Drenckhahn, Detlev

An essential role for frizzled 5 in mammalian ocular development.
score: 4.2864907, Development (Cambridge, England), 2008, Liu, Chunqiao; Nathans, Jeremy

The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining
score: 4.2837669, Advances in Biophysics, 2004, Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
score: 4.2837074, Nature reviews. Genetics, 2005, Hildebrandt, Friedhelm; Otto, Edgar

Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene
score: 4.2827236, Gene, 1990, Hickok, Noreen J. et. al.

Mutations in the PDE6B Gene in Autosomal Recessive Retinitis Pigmentosa
score: 4.2822289, Genomics, 1995, DANCIGER, MICHAEL et. al.

Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
score: 4.2815301, Journal of human genetics, 1998, Hirayama, T et. al.

DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
score: 4.2813636, Neuroscience Letters, 2009, Broom, Wendy J. et. al.

Human genetic factors in nonsyndromic cleft lip and palate: An update
score: 4.2813459, International Journal of Pediatric Otorhinolaryngology, 2007, Carinci, Francesco et. al.

Molecular Cloning of a Novel Human Gene on Chromosome 4p11 by Immunoscreening of an Ovarian Carcinoma cDNA Library
score: 4.2813151, Biochemical and Biophysical Research Communications, 2001, Luo, Liu-Ying et. al.

Mutations in the RYR1 gene in Italian patients at risk for Malignant Hyperthermia: evidence for a cluster of novel mutations in the C-terminal region
score: 4.2812194, Cell Calcium, 2002, Galli, L et. al.

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
score: 4.2810865, The Journal of investigative dermatology, 2000, Rouan, F et. al.

Expression profiles and intergenic structure of head-to-head oriented Brca1 and Nbr1 genes
score: 4.2809722, Gene, 2001, Dimitrov, Stoil; Brennerova, Maria; Forejt, Jiri

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
score: 4.2800907, Cancer research, 1996, Chidambaram, A et. al.

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
score: 4.277875, Birth defects research. Part A, Clinical and molecular teratology, 2004, Digilio, M Cristina et. al.

OR-1, a member of the nuclear receptor superfamily that interacts with the 9-cis-retinoic acid receptor.
score: 4.2770803, Proceedings of the National Academy of Sciences of the United States of America, 1995, Teboul, M et. al.

Structural and functional diversity of blood group antigens
score: 4.2770362, Transfusion clinique et biologique, 2001, Cartron, J.P; Colin, Y

Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease
score: 4.2770114, BBA - Molecular Basis of Disease, 1994, Hayashida, Yumi et. al.

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene
score: 4.2769481, BMC Medical Genetics, 2011, Ghahramani Seno, Mohammad M et. al.

Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.
score: 4.2766574, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2001, Mumm, S et. al.

MPS1-dependent mitotic BLM phosphorylation is important for chromosome stability.
score: 4.2763798, Proceedings of the National Academy of Sciences of the United States of America, 2006, Leng, Mei et. al.

Disease, transplantation and regeneration
score: 4.2747082, Current Opinion in Neurobiology, 1996,

Novel and recurrentEVCandEVC2mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
score: 4.2740994, European Journal of Medical Genetics, 2013, D'Asdia, Maria Cecilia et. al.

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis
score: 4.272642, Molecular Genetics and Metabolism, 2010, Marin-Valencia, Isaac; Roe, Charles R.; Pascual, Juan M.

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
score: 4.2724721, Kidney international, 1997, Endsley, J K et. al.

Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family
score: 4.2724666, Biochemical and Biophysical Research Communications, 2006, Xing, Guangqian et. al.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
score: 4.2712749, European journal of human genetics : EJHG, 2009, Van Dijk, Fleur S et. al.

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
score: 4.2707367, Epilepsia, 2006, de Haan, Gerrit-Jan et. al.

Assessment of mutations in the best macular dystrophy ( VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull’s-eye maculopathy 1 1 The authors have no proprietary interest in the products or devices mentioned herein.
score: 4.2703945, Ophthalmology, 2001, Seddon, Johanna M et. al.

Molecular Biology of the Growth Hormone-Prolactin Gene System
score: 4.2694322, Vitamins and Hormones, 1995, Cooke, Nancy E.; Liebhaber, Stephen A.

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.
score: 4.26925, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2006, Hebbring, Scott J et. al.

Human chromosome 21 gene expression atlas in the mouse.
score: 4.268039, Nature, 2002, Reymond, Alexandre et. al.

Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene.
score: 4.2679873, Journal of human genetics, 1998, Seki, N et. al.

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.
score: 4.267609, European journal of human genetics : EJHG, 2010, Vegt, Rinus et. al.

The genomic structure of the human SPEC1 gene reveals complex splicing and close promoter proximity to the AF1q translocation gene
score: 4.2661298, Gene, 2001, Pirone, Dana M et. al.

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
score: 4.2657549, Human mutation, 2000, Wang, Y; Kelly, M A; Cowan, T M; Longo, N

FHIT mutations in human primary gastric cancer.
score: 4.2653411, Cancer research, 1997, Gemma, A et. al.

cDNA cloning of a quail homeobox gene and its expression in neural crest-derived mesenchyme and lateral plate mesoderm.
score: 4.2646217, Proceedings of the National Academy of Sciences of the United States of America, 1990, Takahashi, Y; Le Douarin, N

Molecular characterization of a rat alpha 2B-adrenergic receptor.
score: 4.2644531, Proceedings of the National Academy of Sciences of the United States of America, 1990, Zeng, D W et. al.

A novel octamer binding transcription factor is differentially expressed in mouse embryonic cells
score: 4.264414, Cell, 1990, Okamoto, Koji et. al.

An Unusual Splice Defect in the Mitofusin 2 Gene ( MFN2 ) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle
score: 4.2640707, PLoS ONE, 2011, Drögemüller, Cord et. al.

Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less).
score: 4.2631445, Journal of cell science, 2001, Nili, E et. al.

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis
score: 4.2630473, Genomics, 1991, Musarella, Maria A. et. al.

Contents
score: 4.2629771, Current Opinion in Biotechnology, 1996,

BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease.
score: 4.2629113, Cancer research, 1998, Haraldsson, K et. al.

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
score: 4.2627541, The American Journal of Human Genetics, 1997, Kayaalp, Emre et. al.

Gene Dosage–limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity
score: 4.2626505, The Journal of Experimental Medicine, 2004, Liston, Adrian et. al.

l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
score: 4.2623578, Molecular Genetics and Metabolism, 2010, Edvardson, Simon et. al.

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
score: 4.2620777, Kidney international, 2000, Egoshi, K I; Akakura, K; Kodama, T; Ito, H

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.
score: 4.2615335, Human molecular genetics, 2013, Geister, Krista A et. al.

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction
score: 4.2609223, The Journal of Pediatrics, 1990, Pike, Michael G. et. al.

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction
score: 4.2609223, The Journal of Pediatrics, 1990, Pike, Michael G. et. al.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
score: 4.2607991, Neuromuscular Disorders, 2002, Fernandez-Hojas, Roberto et. al.

Estimating prevalence in single-gene kidney diseases progressing to renal failure.
score: 4.2597475, Kidney international, 2000, Levy, M; Feingold, J

Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.
score: 4.2595778, Journal of biochemistry, 1993, Ida, H; Rennert, O M; Eto, Y; Chan, W Y

The iodocyanopindolol and SM-11044 binding protein belongs to the TM9SF multispanning membrane protein superfamily
score: 4.2592882, Gene, 2001, Sugasawa, Toshinari et. al.

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
score: 4.2588904, European journal of human genetics : EJHG, 2013, Marangi, Giuseppe et. al.

Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
score: 4.257523, Clinical genetics, 1996, Gundersen, K E et. al.

Molecular Characterization of a Novel Gene Family (PHTF) Conserved from Drosophila To Mammals
score: 4.2573648, Genomics, 2000, Manuel, A.; Beaupain, D.; Romeo, P.H.; Raich, N.

c-ABL tyrosine kinase activity is regulated by association with a novel SH3-domain-binding protein.
score: 4.2569474, Molecular and cellular biology, 1996, Zhu, J; Shore, S K

Molecular genetics of chronic liver diseases
score: 4.2569431, Bailliere's Clinical Gastroenterology, 1990, Brind, A.M.; Bassendine, M.F.

Human MYO18B, a Novel Unconventional Myosin Heavy Chain Expressed in Striated Muscles Moves into the Myonuclei upon Differentiation
score: 4.2569327, Journal of Molecular Biology, 2003, Salamon, Michela et. al.

PP1 binds Sara and negatively regulates Dpp signaling in Drosophila melanogaster.
score: 4.2562235, Nature genetics, 2002, Bennett, Daimark; Alphey, Luke

Rapamycin-FKBP specifically blocks growth-dependent activation of and signaling by the 70 kd S6 protein kinases
score: 4.2552926, Cell, 1992, Chung, Jongkyeong et. al.

ch-IAP1, a member of the inhibitor-of-apoptosis protein family, is a mediator of the antiapoptotic activity of the v-Rel oncoprotein.
score: 4.2548251, Molecular and cellular biology, 1997, You, M; Ku, P T; Hrdlicková, R; Bose, H R

Conditional inactivation of the mouse Hus1 cell cycle checkpoint gene
score: 4.2543738, Genomics, 2005, Levitt, Peter S. et. al.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
score: 4.2542224, Brain : a journal of neurology, 2007, Müller, Juliane S et. al.

Mammalian Abp1, a Signal-Responsive F-Actin–Binding Protein, Links the Actin Cytoskeleton to Endocytosis via the Gtpase Dynamin
score: 4.2536739, The Journal of Cell Biology, 2001, Kessels, Michael M. et. al.

A Novel Human TPIP Splice-Variant (TPIP-C2) mRNA, Expressed in Human and Mouse Tissues, Strongly Inhibits Cell Growth in HeLa Cells
score: 4.2533356, PLoS ONE, 2011, Mishra, Rasmi Rekha et. al.

Deletions of the COL4A5 gene in patients with Alport syndrome.
score: 4.2531899, Kidney international, 1992, Netzer, K O et. al.

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
score: 4.2523169, The American Journal of Human Genetics, 2008, Baptista, Julia et. al.

Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells.
score: 4.252263, Nature genetics, 2008, Boyden, Lynn M et. al.

Nuclear Accumulation of Truncated Atrophin-1 Fragments in a Transgenic Mouse Model of DRPLA
score: 4.2520572, Neuron, 1999, Schilling, Gabriele et. al.

Genetic causes of human infertility
score: 4.2512921, Endocrinology and Metabolism Clinics of North America, 2003, Layman, Lawrence C

Characterization of PSKH1, a Novel Human Protein Serine Kinase with Centrosomal, Golgi, and Nuclear Localization
score: 4.2509226, Genomics, 2000, Brede, Gaute; Solheim, Jorun; Tröen, Gunhild; Prydz, Hans

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
score: 4.2506939, Proceedings of the National Academy of Sciences of the United States of America, 2003, Yamanaka, Koji et. al.

Clinical, Molecular, and Cell Biological Aspects of Chediak–Higashi Syndrome
score: 4.2502639, Molecular Genetics and Metabolism, 1999, Introne, Wendy; Boissy, Raymond E.; Gahl, William A.

The Amyotrophic Lateral Sclerosis 8 Protein VAPB Is Cleaved, Secreted, and Acts as a Ligand for Eph Receptors
score: 4.2500465, Cell, 2008, Tsuda, Hiroshi et. al.

Characterization of the porcine ATM gene: Towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia
score: 4.2494858, Gene, 2007, Rogatcheva, Margarita B. et. al.

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.
score: 4.249111, Human mutation, 1994, Winterpacht, A et. al.

SynGAP-MUPP1-CaMKII Synaptic Complexes Regulate p38 MAP Kinase Activity and NMDA Receptor- Dependent Synaptic AMPA Receptor Potentiation
score: 4.2489872, Neuron, 2004, Krapivinsky, Grigory et. al.

Resolution of the novel immune-type receptor gene cluster in zebrafish.
score: 4.2484595, Proceedings of the National Academy of Sciences of the United States of America, 2004, Yoder, Jeffrey A et. al.

Characterization of recessive RYR1 mutations in core myopathies.
score: 4.2480372, Human molecular genetics, 2006, Zhou, Haiyan et. al.

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.
score: 4.2479763, Journal of human genetics, 2010, O'Neill, Iain D

The X-linked lymphoproliferative disease gene product SAP associates with PAK-interacting exchange factor and participates in T cell activation.
score: 4.2479216, Proceedings of the National Academy of Sciences of the United States of America, 2006, Gu, Cuiping et. al.

Huntington's disease gene (IT15) is widely expressed in human and rat tissues
score: 4.2469324, Neuron, 1993, Li, S.-H. et. al.

Joining of the c-myc gene and a line 1 family member on chromosome 8 in a human primary giant cell carcinoma of the lung.
score: 4.2452561, Cancer research, 1990, Iizuka, M; Shiraishi, M; Yoshida, M C; Hayashi, K; Sekiya, T

Characterization and tissue distribution of a novel human cytochrome P450—CYP2U1
score: 4.2451984, Biochemical and Biophysical Research Communications, 2004, Karlgren, Maria et. al.

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
score: 4.2449704, European Journal of Medical Genetics, 2012, Yuca, Sevil Ari et. al.

BMP signaling is required for septation of the outflow tract of the mammalian heart.
score: 4.2447125, Development (Cambridge, England), 2003, Délot, Emmanuèle C et. al.

Multi-system signs and symptoms in X-linked ataxia carriers
score: 4.2441137, Journal of the Neurological Sciences, 1996, Verhagen, W.I.M.; Huygen, P.L.M.; Arts, W.F.M.

Mitochondrial encephalopathies
score: 4.2440538, Seminars in Pediatric Neurology, 1996, Maertens, Paul

Hematologic characterization and chromosomal localization of the novel dominantly inherited mouse hemolytic anemia, neonatal anemia ( Nan)
score: 4.2439464, Blood Cells, Molecules and Diseases, 2009, White, Robert A. et. al.

FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations.
score: 4.2428304, Cancer research, 1997, Fong, K M et. al.

An essential role for a CD36-related receptor in pheromone detection in Drosophila.
score: 4.2426261, Nature, 2007, Benton, Richard; Vannice, Kirsten S; Vosshall, Leslie B

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis
score: 4.24248, Osteoarthritis and Cartilage, 2005, Jakkula, E. et. al.

Cloning of rat ARHGAP4/C1, a RhoGAP family member expressed in the nervous system that colocalizes with the Golgi complex and microtubules
score: 4.2424272, Molecular Brain Research, 2002, Foletta, Victoria C; Brown, Fraser D; Scott Young III, W

Population history and its impact on medical genetics in Quebec.
score: 4.242349, Clinical genetics, 2005, Laberge, A-M et. al.

X-inactivation profile reveals extensive variability in X-linked gene expression in females.
score: 4.2413361, Nature, 2005, Carrel, Laura; Willard, Huntington F

Identification and characterization of 9D7, a novel human protein overexpressed in renal cell carcinoma.
score: 4.2412549, International journal of cancer. Journal international du cancer, 2002, Klade, Christoph S et. al.

Rapid in silico cloning of genes using expressed sequence tags (ESTs)
score: 4.2409603, Biotechnology Annual Review, 2000, Gill, Robert W.; Sanseau, Philippe

Rapid in silico cloning of genes using expressed sequence tags (ESTs)
score: 4.2409603, Biotechnology Annual Review, 2000, Gill, Robert W.; Sanseau, Philippe

Rapid in silico cloning of genes using expressed sequence tags (ESTs)
score: 4.2409603, Biotechnology Annual Review, 2000, Gill, Robert W.; Sanseau, Philippe

Cloning of a novel glutamate receptor subunit, GluR5: Expression in the nervous system during development
score: 4.2408727, Neuron, 1990, Bettler, Bernhard et. al.

Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B.
score: 4.2401782, Pediatric research, 1998, Kala, P; Ten Have, T; Nielsen, H; Dunn, M; Floros, J

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
score: 4.2390093, Proceedings of the National Academy of Sciences of the United States of America, 2011, Farrow, Emily G et. al.

Cloning of human cDNAs for Apg-1 and Apg-2, members of the Hsp110 family, and chromosomal assignment of their genes
score: 4.2386319, Gene, 1999, Nonoguchi, Kohsuke et. al.

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency
score: 4.2381304, Molecular Genetics and Metabolism, 2010, Balasubramaniam, S. et. al.

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs
score: 4.2375295, Genomics, 2005, Melville, Scott A. et. al.

TRP2: a candidate transduction channel for mammalian pheromone sensory signaling.
score: 4.2372136, Proceedings of the National Academy of Sciences of the United States of America, 1999, Liman, E R; Corey, D P; Dulac, C

A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract
score: 4.2372083, Molecular Vision, 2009, Zhang, Li-Yun et. al.

A Drosophila homolog of the tumor suppressor gene adenomatous polyposis coli down-regulates beta-catenin but its zygotic expression is not essential for the regulation of Armadillo.
score: 4.2371751, Proceedings of the National Academy of Sciences of the United States of America, 1997, Hayashi, S et. al.

Identical splicing of aberrant epidermal growth factor receptor transcripts from amplified rearranged genes in human glioblastomas.
score: 4.2361656, Proceedings of the National Academy of Sciences of the United States of America, 1990, Sugawa, N; Ekstrand, A J; James, C D; Collins, V P

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings
score: 4.2358527, Journal of the Neurological Sciences, 1997, Hund, E. et. al.

Cloning and characterization of p10, an alternatively spliced form of p15 cyclin-dependent kinase inhibitor.
score: 4.2351217, Cancer research, 1997, Tsubari, M; Tiihonen, E; Laiho, M

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses.
score: 4.2345887, Briefings in functional genomics, 2010, Bellone, Rebecca R et. al.

A putative ATP binding protein influences the fidelity of branchpoint recognition in yeast splicing
score: 4.232657, Cell, 1990, Burgess, Sean; Couto, Joseph R.; Guthrie, Christine

AP-3 Directs the Intracellular Trafficking of HIV-1 Gag and Plays a Key Role in Particle Assembly
score: 4.2322246, Cell, 2005, Dong, Xinhong et. al.

A Myristoylated Calcium-binding Protein that Preferentially Interacts with the Alzheimer's Disease Presenilin 2 Protein
score: 4.2321208, The Journal of Cell Biology, 1999, Stabler, Stacy M. et. al.

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
score: 4.231911, Proceedings of the National Academy of Sciences of the United States of America, 1997, Myers, M P et. al.

Ciliopathies: an expanding disease spectrum
score: 4.2312766, Pediatric Nephrology (Berlin, Germany), 2011, Waters, Aoife M.; Beales, Philip L.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
score: 4.2303237, Molecular Vision, 2008, Yang, Juhua et. al.

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
score: 4.2301066, International Journal of Pediatric Otorhinolaryngology, 2009, Teek, Rita et. al.

A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.
score: 4.2297611, Journal of human genetics, 1999, Horiuchi, T et. al.

Structure of a Survivin–Borealin–INCENP Core Complex Reveals How Chromosomal Passengers Travel Together
score: 4.2282202, Cell, 2007, Jeyaprakash, A. Arockia et. al.

Mtr1, a Novel Biallelically Expressed Gene in the Center of the Mouse Distal Chromosome 7 Imprinting Cluster, is a Member of the Trp Gene Family
score: 4.2279752, Genomics, 2000, Enklaar, Thorsten et. al.

Linkage exclusion analysis of two important chromosomal regions for height
score: 4.2278051, Biochemical and Biophysical Research Communications, 2005, Yang, Yan-Jun et. al.

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias
score: 4.2277676, Molecular Genetics and Metabolism, 2003, Krakow, Deborah et. al.

Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity.
score: 4.2277519, Proceedings of the National Academy of Sciences of the United States of America, 2002, Schmidt, Darja; Müller, Stefan

The Story of Rett Syndrome: From Clinic to Neurobiology
score: 4.2263936, Neuron, 2007, Chahrour, Maria; Zoghbi, Huda Y.

Piebaldism, waardenburg syndrome, and related disorders of melanocyte development
score: 4.22639, Seminars in Cutaneous Medicine and Surgery, 1997, Spritz, Richard A.

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility.
score: 4.2261586, Autism research : official journal of the International Society for Autism Research, 2009, Cukier, Holly N et. al.

The domino gene of Drosophila encodes novel members of the SWI2/SNF2 family of DNA-dependent ATPases, which contribute to the silencing of homeotic genes.
score: 4.2260434, Development (Cambridge, England), 2001, Ruhf, M L et. al.

A missense mutation in the murine Opa3 gene models human Costeff syndrome.
score: 4.2251174, Brain : a journal of neurology, 2008, Davies, Vanessa J et. al.

Molecular Cloning and Chromosomal Mapping of Olfactory Receptor Genes Expressed in the Male Germ Line: Evidence for Their Wide Distribution in the Human Genome
score: 4.2245434, Biochemical and Biophysical Research Communications, 1997, Vanderhaeghen, Pierre et. al.

A novel expression based approach for assessing the inactivation status of human X-linked genes.
score: 4.2240887, European journal of human genetics : EJHG, 2000, Benjamin, D; Van Bakel, I; Craig, I W

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
score: 4.2239329, Clinical genetics, 2000, Peverall, J; Edkins, E; Goldblatt, J; Murch, A

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form
score: 4.2239043, Molecular Genetics and Metabolism, 2008, Navarro-Sastre, Aleix et. al.

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
score: 4.2238082, Heart, 2010, Griffin, Helen R et. al.

Exonic SINE insertion in STK38L causes canine early retinal degeneration ( erd)
score: 4.2237848, Genomics, 2010, Goldstein, Orly et. al.

Familial Dyslexia: Use of Genetic Linkage Data to Define Subtypes
score: 4.2230245, Journal of the American Academy of Child & Adolescent Psychiatry, 1990, SMITH, SHELLEY D. et. al.

Cdk5rap2 Interacts with Pericentrin to Maintain the Neural Progenitor Pool in the Developing Neocortex
score: 4.2229789, Neuron, 2010, Buchman, Joshua J. et. al.

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
score: 4.2229144, The British journal of dermatology, 2007, Méndez, M et. al.

A Double-Deletion Mutation in the Pitx3 Gene Causes Arrested Lens Development in Aphakia Mice
score: 4.2223758, Genomics, 2001, Rieger, Daniel K. et. al.

Human disease genes.
score: 4.2222356, Nature, 2001, Jimenez-Sanchez, G; Childs, B; Valle, D

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.
score: 4.2222083, Molecular psychiatry, 2010, Strom, S P et. al.

Clinical spectrum of chromosome 6–linked autosomal dominant drusen and macular degeneration
score: 4.2218772, American Journal of Ophthalmology, 2000, Stefko, Susan T et. al.

Mediation of Af4 protein function in the cerebellum by Siah proteins.
score: 4.2217417, Proceedings of the National Academy of Sciences of the United States of America, 2004, Oliver, Peter L et. al.

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
score: 4.2215282, Kidney international, 1998, Wildin, R S; Cogdell, D E; Valadez, V

Taxol resistance mediated by transfection of the liver-specific sister gene of P-glycoprotein.
score: 4.2214337, Cancer research, 1998, Childs, S; Yeh, R L; Hui, D; Ling, V

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy
score: 4.2212767, Neuromuscular Disorders, 2009, Flanigan, Kevin M. et. al.

Identification of a novel human thyroid hormone receptor β isoform as a transcriptional modulator
score: 4.2211378, Biochemical and Biophysical Research Communications, 2010, Tagami, Tetsuya et. al.

Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
score: 4.2209684, Pediatric research, 2000, den Boer, M E et. al.

Reticulate hyperpigmentation
score: 4.2209322, Seminars in Cutaneous Medicine and Surgery, 1997, Schnur, Rhonda E.; Heymann, Warren R.

Identification of candidate regions for a novel Usher syndrome type II locus
score: 4.2201058, Molecular Vision, 2008, Ben Rebeh, Imen et. al.

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
score: 4.2189427, European journal of human genetics : EJHG, 2007, Joensuu, Tarja et. al.

The mouse and human Liprin-α family of scaffolding proteins: Genomic organization, expression profiling and regulation by alternative splicing
score: 4.2185034, Genomics, 2009, Zürner, Magdalena; Schoch, Susanne

A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
score: 4.2177573, The British journal of dermatology, 2005, Cury, V F et. al.

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A
score: 4.2176134, Seizure: European Journal of Epilepsy, 2009, Mahoney, Krista et. al.

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
score: 4.2161008, Kidney international, 2008, Fuster, D G; Zhang, J; Xie, X-S; Moe, O W

A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy
score: 4.2158015, American Journal of Ophthalmology, 2006, Lin, Ruth J. et. al.

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
score: 4.215795, Molecular Genetics and Metabolism, 2009, Di Leo, Enza et. al.

Homozygosity and Physical Mapping of the Autosomal Recessive Retinitis Pigmentosa Locus (RP14) on Chromosome 6p21.3
score: 4.2151131, Genomics, 1998, Banerjee, Poulabi et. al.

Identification and functional characterization of a novel interleukin 17 receptor: A possible mitogenic activation through ras/mitogen-activated protein kinase signaling pathway
score: 4.2146781, Cellular Signalling, 2006, Li, Tie-Shi et. al.

A further study of a possible locus for schizophrenia on the X chromosome
score: 4.2145438, Biochemical and Biophysical Research Communications, 2006, Wei, Jun; Hemmings, Gwynneth P.

Isolation of a cDNA encoding thymic shared antigen-1. A new member of the Ly6 family with a possible role in T cell development.
score: 4.2143531, Journal of immunology (Baltimore, Md. : 1950), 1993, MacNeil, I et. al.

Chromosomes and expression mechanisms
score: 4.2141576, Current Opinion in Genetics & Development, 1997,

The candidate proto-oncogene bcl-3 is related to genes implicated in cell lineage determination and cell cycle control
score: 4.214052, Cell, 1990, Ohno, Hitoshi; Takimoto, Glenn; McKeithan, Timothy W.

Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand.
score: 4.2132672, Proceedings of the National Academy of Sciences of the United States of America, 1999, Hsu, H et. al.

A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family
score: 4.2130326, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2002, Tanko, Q.; Franklin, B.; Lynch, H.; Knezetic, J.

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation
score: 4.2128393, Current Opinion in Genetics & Development, 1992, Mandel, Jean-Louis; Heitz, Dominique

Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
score: 4.212694, Molecular Genetics and Metabolism, 2007, Fukao, Toshiyuki et. al.

Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?
score: 4.2124161, American journal of medical genetics. Part A, 2010, Hall, Judith G

Syndapin Isoforms Participate in Receptor-Mediated Endocytosis and Actin Organization
score: 4.2119391, The Journal of Cell Biology, 2000, Qualmann, Britta; Kelly, Regis B.

Complementation of a Yeast CYC3 Deficiency Identifies an X-Linked Mammalian Activator of Apocytochrome c
score: 4.2117938, Genomics, 2002, Schwarz, Quenten P.; Cox, Timothy C.

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.
score: 4.2112902, Human molecular genetics, 1992, Jordan, S A et. al.

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes
score: 4.2106453, Molecular and Cellular Endocrinology, 2010, Davis, S.W. et. al.

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
score: 4.2099245, Human mutation, 2004, Mozas, Pilar et. al.

A novel peptide which stimulates adenylate cyclase: Molecular cloning and characterization of the ovine and human cDNAs
score: 4.2095866, Biochemical and Biophysical Research Communications, 1990, Kimura, Chiharu et. al.

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
score: 4.2091478, Genomics, 1992, Berg, Lutz-Peter et. al.

Exome sequencing reveals de novo mutations in WDR45 causing a phenotypically distinct, X-linked dominant form of NBIA
score: 4.2086753, The American Journal of Human Genetics, 2012, Haack, Tobias B. et. al.

Gene discovery by microarray: identification of novel genes induced during growth factor-mediated muscle cell survival and differentiation
score: 4.2086709, Genomics, 2004, Kuninger, David et. al.

Identification of a novel alternative splicing isoform of human amyloid precursor protein gene, APP639.
score: 4.2086286, The European journal of neuroscience, 2003, Tang, Ke et. al.

Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinoma in five kindreds.
score: 4.2077536, Cancer research, 1991, Peltomäki, P et. al.

Murine Protein Kinase CK2α′: cDNA and Genomic Cloning and Chromosomal Mapping
score: 4.2075226, Genomics, 1998, Xu, Xin; Rich, Edwin S.; Seldin, David C.

Fbxw8 is essential for Cul1-Cul7 complex formation and for placental development.
score: 4.2071296, Molecular and cellular biology, 2006, Tsunematsu, Ryosuke et. al.

Transgene-induced mutation of the murine steel locus.
score: 4.2069168, Proceedings of the National Academy of Sciences of the United States of America, 1990, Keller, S A; Liptay, S; Hajra, A; Meisler, M H

Chapter 2 The Etiopathogenesis of Cleft Lip and Cleft Palate
score: 4.206036, Current Topics in Developmental Biology, 2008, Gritli‐Linde, Amel

Conserved family of glycerol kinase loci in Drosophila melanogaster
score: 4.2057421, Molecular Genetics and Metabolism, 2006, Martinez Agosto, Julian A.; McCabe, Edward R.B.

Molecular characterization and expression of the low-density lipoprotein receptor-related protein-10, a new member of the LDLR gene family
score: 4.2049971, Biochemical and Biophysical Research Communications, 2010, Jeong, Young-Hee et. al.

Identification and characterization of Grainyhead-like epithelial transactivator (GET-1), a novel mammalian Grainyhead-like factor.
score: 4.2049446, Developmental dynamics : an official publication of the American Association of Anatomists, 2003, Kudryavtseva, Elena I et. al.

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.
score: 4.2049214, Journal of human genetics, 2009, Sacconi, Sabrina; Salviati, Leonardo; Trevisson, Eva

Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy
score: 4.2046677, Journal of the Neurological Sciences, 1994, Sweeney, M.G. et. al.

Nucleus and gene expression
score: 4.2036249, Current Opinion in Cell Biology, 1993,

Killer Ig-like receptor haplotype analysis by gene content: evidence for genomic diversity with a minimum of six basic framework haplotypes, each with multiple subsets.
score: 4.2033174, Journal of immunology (Baltimore, Md. : 1950), 2002, Hsu, Katharine C et. al.

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain.
score: 4.2014105, Development (Cambridge, England), 2007, Andoniadou, Cynthia L et. al.

Balancing Acts
score: 4.2004003, Cell, 2004, Hentze, Matthias W et. al.

Catweasel mice: A novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome
score: 4.2000204, Developmental Biology, 2009, Bosman, Erika A. et. al.

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
score: 4.1996171, Epilepsia, 2009, Parrini, Elena et. al.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
score: 4.1992587, Clinical genetics, 2005, Harvard, C et. al.

Genetic Heterogeneity of Adrenocorticotropin (ACTH) Resistance Syndromes: Identification of a Novel Mutation of the ACTH Receptor Gene in Hereditary Glucocorticoid Deficiency
score: 4.1983699, Molecular Genetics and Metabolism, 1998, Wu, Shao-Ming et. al.

Cloning and functional expression of alternative spliced variants of the rho1 gamma-aminobutyrate receptor.
score: 4.1977795, Proceedings of the National Academy of Sciences of the United States of America, 1998, Martínez-Torres, A; Vazquez, A E; Panicker, M M; Miledi, R

The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease
score: 4.1975768, BBA - Molecular Basis of Disease, 2005, Paulusma, C.C.; Oude Elferink, R.P.J.

A Genomewide Screen for Schizophrenia Genes in an Isolated Finnish Subpopulation, Suggesting Multiple Susceptibility Loci
score: 4.1973244, The American Journal of Human Genetics, 1999, Hovatta, Iiris et. al.

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
score: 4.197061, Journal of Clinical Neuroscience, 2006, Bertelli, M. et. al.

The STE20 kinase HGK is broadly expressed in human tumor cells and can modulate cellular transformation, invasion, and adhesion.
score: 4.1964388, Molecular and cellular biology, 2003, Wright, Jocelyn H et. al.

βAPP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family
score: 4.1961937, Molecular Brain Research, 1995, Querfurth, Henry W. et. al.

Functional characterization of human variants of the mu-opioid receptor gene.
score: 4.1960708, Proceedings of the National Academy of Sciences of the United States of America, 2009, Ravindranathan, Ajay et. al.

TGF-β1 inhibition of transin/stromelysin gene expression is mediated through a fos binding sequence
score: 4.1952302, Cell, 1990, Kerr, Lawrence D.; Miller, Donna B.; Matrisian, Lynn M.

Absence of p16INK4a and truncation of ARF tumor suppressors in chickens.
score: 4.1952006, Proceedings of the National Academy of Sciences of the United States of America, 2003, Kim, Soo-Hyun et. al.

Molecular characterization of the mouse agouti locus
score: 4.1940536, Cell, 1992, Bultman, Scott J.; Michaud, Edward J.; Woychik, Richard P.

Isolation and sequencing of cDNAs for splice variants of growth hormone-releasing hormone receptors from human cancers.
score: 4.1939758, Proceedings of the National Academy of Sciences of the United States of America, 2000, Rekasi, Z; Czompoly, T; Schally, A V; Halmos, G

Cloning of the DMD Gene *
score: 4.1939591, The American Journal of Human Genetics, 2005, Kunkel, Louis M.

The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment.
score: 4.1938974, Proceedings of the National Academy of Sciences of the United States of America, 1998, Chen, P L; Chen, C F; Chen, Y; Xiao, J; Sharp, Z D; Lee, W H

Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
score: 4.1935553, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2007, Hough, Tertius A et. al.

Cell autonomous regulation of multiple Dishevelled-dependent pathways by mammalian Nkd.
score: 4.1934517, Proceedings of the National Academy of Sciences of the United States of America, 2001, Yan, D et. al.

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
score: 4.1930926, Kidney international, 2003, Wolf, Matthias T F et. al.

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
score: 4.1924084, Eye (London, England), 2010, Jalili, I K

Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β ( TCRB) Locus
score: 4.1920503, The American Journal of Human Genetics, 2001, Subrahmanyan, Lakshman et. al.

The structure of the mouse lipoprotein lipase gene: A B1 repetitive element is inserted into the 3′ untranslated region of the mRNA
score: 4.1920025, Genomics, 1991, Zechner, R.; Newman, T.C.; Steiner, E.; Breslow, J.L.

Loss of heterozygosity in human skin
score: 4.191928, Journal of the American Academy of Dermatology, 1999, Happle, Rudolf

Directional Sensing Requires Gβγ-Mediated PAK1 and PIXα-Dependent Activation of Cdc42
score: 4.1918825, Cell, 2003, Li, Zhong et. al.

Inhibition of lung cancer cell growth and induction of apoptosis after reexpression of 3p21.3 candidate tumor suppressor gene SEMA3B.
score: 4.1905687, Proceedings of the National Academy of Sciences of the United States of America, 2001, Tomizawa, Y et. al.

A nonsense mutation in the gene encoding a zebrafish myosin VI isoform causes defects in hair-cell mechanotransduction.
score: 4.1901136, Proceedings of the National Academy of Sciences of the United States of America, 2004, Kappler, James A et. al.

Identification of a novel Skp2-like mammalian protein containing F-box and leucine-rich repeats 1 The sequence reported in this paper has been submitted to the GenBank database with accession number AF182443. 1
score: 4.1898474, FEBS Letters, 1999, Ilyin, Gennady P. et. al.

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
score: 4.189555, Journal of human genetics, 2001, Chávez, B et. al.

Fc receptor homolog 3 is a novel immunoregulatory marker of marginal zone and B1 B cells.
score: 4.1893305, Journal of immunology (Baltimore, Md. : 1950), 2006, Won, Woong-Jai et. al.

Gene Clusters, Molecular Evolution and Disease: A Speculation
score: 4.1893169, Current Genomics, 2009, Elizondo, Leah I et. al.

A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia
score: 4.1892717, Atherosclerosis, 2008, Pisciotta, Livia et. al.

A Human Endogenous Retroviral Superantigen as Candidate Autoimmune Gene in Type I Diabetes
score: 4.1889096, Cell, 1997, Conrad, Bernard et. al.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome
score: 4.1882432, Molecular Vision, 2008, Li, Dandan; Zhu, Qingguo; Lin, Hui; Zhou, Nan; Qi, Yanhua

The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive gene and inactivated by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
score: 4.1876955, Oncogene, 2004, Qiu, Guo-Hua et. al.

Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms
score: 4.1875208, The American Journal of Human Genetics, 2001, Watkins, W.S. et. al.

Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA Ser(UCN) genes in two Chinese families
score: 4.1871984, Biochemical and Biophysical Research Communications, 2006, Zhu, Yi et. al.

An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures
score: 4.1867171, PLoS ONE, 2010, Bader, Hannah L. et. al.

Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit.
score: 4.1864149, Proceedings of the National Academy of Sciences of the United States of America, 2005, Liu, Jie et. al.

Identification and characterization of a novel, evolutionarily conserved gene disrupted by the murine H beta 58 embryonic lethal transgene insertion.
score: 4.1864088, Development (Cambridge, England), 1992, Lee, J J; Radice, G; Perkins, C P; Costantini, F

Systematic Interactome Mapping and Genetic Perturbation Analysis of a C. elegans TGF-β Signaling Network
score: 4.1861297, Molecular Cell, 2004, Tewari, Muneesh et. al.

Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations
score: 4.1856357, Journal of the American Academy of Dermatology, 2002, Poh-Fitzpatrick, Maureen B. et. al.

A KRAB-related domain and a novel transcription repression domain in proteins encoded by SSX genes that are disrupted in human sarcomas.
score: 4.1850161, Oncogene, 1998, Lim, F L; Soulez, M; Koczan, D; Thiesen, H J; Knight, J C

Evolution of the pseudoautosomal boundary in old world monkeys and great apes
score: 4.1849957, Cell, 1990, Ellis, Nathan et. al.

Human malformations of the midbrain and hindbrain: review and proposed classification scheme
score: 4.1844949, Molecular Genetics and Metabolism, 2003, Parisi, Melissa A; Dobyns, William B

The Arf tumor suppressor gene promotes hyaloid vascular regression during mouse eye development.
score: 4.1840163, Proceedings of the National Academy of Sciences of the United States of America, 2002, McKeller, Robyn N et. al.

ST18 is a breast cancer tumor suppressor gene at human chromosome 8q11.2.
score: 4.1837601, Oncogene, 2004, Jandrig, Burkhard et. al.

Primer on Medical Genomics Part VIII: Essentials of Medical Genetics for the Practicing Physician
score: 4.1837236, Mayo Clinic Proceedings, 2003, Ensenauer, Regina E. et. al.

Primer on Medical Genomics Part VIII: Essentials of Medical Genetics for the Practicing Physician
score: 4.1837236, Mayo Clinic Proceedings, 2003, Ensenauer, Regina E. et. al.

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
score: 4.1823055, Diabetes, 2010, Rubio-Cabezas, Oscar et. al.

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
score: 4.1821413, Proceedings of the National Academy of Sciences of the United States of America, 2012, Zanni, Ginevra et. al.

Molecular characterization of a mouse prostaglandin D receptor and functional expression of the cloned gene.
score: 4.1819948, Proceedings of the National Academy of Sciences of the United States of America, 1994, Hirata, M; Kakizuka, A; Aizawa, M; Ushikubi, F; Narumiya, S

Characterization and cell type distribution of a novel, major transcript of the Duchenne Muscular Dystrophy gene
score: 4.1813933, Differentiation, 1992, Rapaport, Debora et. al.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
score: 4.1811091, Nature genetics, 2009, Ganesh, Santhi K. et. al.

Growth and early postimplantation defects in mice deficient for the bromodomain-containing protein Brd4.
score: 4.1808255, Molecular and cellular biology, 2002, Houzelstein, Denis et. al.

Chapter 2 The Etiopathogenesis of Cleft Lip and Cleft Palate:Usefulness and Caveats of Mouse Models
score: 4.1796197, Current Topics in Developmental Biology, 2008, Gritli‐Linde, Amel

TGFβ Signaling in Growth Control, Cancer, and Heritable Disorders
score: 4.1787255, Cell, 2000, Massagué, Joan; Blain, Stacy W; Lo, Roger S

Analysis of the FHIT gene and FRA3B region in sporadic breast cancer, preneoplastic lesions, and familial breast cancer probands.
score: 4.1778037, Cancer research, 1997, Ahmadian, M et. al.

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
score: 4.1765612, Clinical genetics, 2007, Møller, R S et. al.

Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
score: 4.1764859, Biochemical and Biophysical Research Communications, 2009, Liang, Min et. al.

Clinical and molecular genetics of ADHD and Tourette syndrome. Two related polygenic disorders.
score: 4.176169, Annals of the New York Academy of Sciences, 2001, Comings, D E

Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation
score: 4.1756685, Journal of the Neurological Sciences, 1998, Mital, Aperna; Kumari, Daman; Gupta, Meena; Goyle, Shobha

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
score: 4.1752169, The Journal of Pediatrics, 2006, Whyte, Michael P. et. al.

Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15.
score: 4.1749125, Proceedings of the National Academy of Sciences of the United States of America, 2002, Rinchik, Eugene M; Carpenter, Donald A; Johnson, Dabney K

Loss of the putative tumor suppressor band 4.1B/Dal1 gene is dispensable for normal development and does not predispose to cancer.
score: 4.1748618, Molecular and cellular biology, 2005, Yi, Chunling et. al.

Genetic Studies of Autistic Disorder and Chromosome 7
score: 4.1743554, Genomics, 1999, Ashley-Koch, A. et. al.

A new member of the NY-ESO-1 gene family is ubiquitously expressed in somatic tissues and evolutionarily conserved
score: 4.1740746, Gene, 2002, Alpen, Birgit et. al.

Regulation of Marginal Zone B Cell Development by MINT, a Suppressor of Notch/RBP-J Signaling Pathway
score: 4.1727728, Immunity, 2003, Kuroda, Kazuki et. al.

Sinup, a novel Siaz-interacting nuclear protein, modulates neural plate formation in the zebrafish embryos
score: 4.1726274, Biochemical and Biophysical Research Communications, 2005, Ro, Hyunju et. al.

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
score: 4.1719792, Epilepsy Research, 2006, Ma, Shaochun et. al.

COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome.
score: 4.1706438, Kidney international, 1993, Netzer, K O et. al.

Merlin/ NF2 Suppresses Tumorigenesis by Inhibiting the E3 Ubiquitin Ligase CRL4 DCAF1 in the Nucleus
score: 4.1705549, Cell, 2010, Li, Wei et. al.

X chromosome array-CGH for the identification of novel X-linked mental retardation genes
score: 4.1704596, European Journal of Medical Genetics, 2005, Bauters, Marijke et. al.

Gene-based approach to human gene-phenotype correlations.
score: 4.1701025, Proceedings of the National Academy of Sciences of the United States of America, 1997, Dryja, T P

Monomethylated cap structures facilitate RNA export from the nucleus
score: 4.1700928, Cell, 1990, Hamm, Jörg; Mattaj, Iain W.

Germ-Line TP53 Mutations in Finnish Cancer Families Exhibiting Features of the Li-Fraumeni Syndrome and Negative for BRCA1 and BRCA2
score: 4.1696018, Cancer Genetics and Cytogenetics, 1999, Huusko, Pia et. al.

Isolation and expression of a full-length cDNA encoding the human G M2 activator protein
score: 4.1695701, Biochemical and Biophysical Research Communications, 1991, Xie, Bei et. al.

A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch–Nyhan syndrome
score: 4.1689156, Molecular Genetics and Metabolism, 2003, Zoref-Shani, Esther et. al.

Direct selection of expressed sequences within a 1-Mb region flanking BRCA1 on human chromosome 17q21
score: 4.1679217, Genomics, 1995, Osborne-Lawrence, Sherri et. al.

NEW DEVELOPMENTS IN CONGENITAL LIPOID ADRENAL HYPERPLASIA AND STEROIDOGENIC ACUTE REGULATORY PROTEIN
score: 4.1671281, The Pediatric Clinics of North America, 1997, Saenger, Paul

Next-Generation Sequencing Reveals Deep Intronic CrypticABCC8andHADHSplicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
score: 4.1668116, The American Journal of Human Genetics, 2013, Flanagan, Sarah E. et. al.

Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: Genetic analysis of the liver glycogen phosphorylase gene ( PYGL)
score: 4.1661143, Diabetes Research and Clinical Practice, 2004, Tomihira, Masako et. al.

Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
score: 4.1660018, Human mutation, 1998, Besançon, R et. al.

Adipose tissue reduction in mice lacking the translational inhibitor 4E-BP1.
score: 4.1651678, Nature medicine, 2001, Tsukiyama-Kohara, K et. al.

A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: a tale of two proteins in search of a transport function.
score: 4.1636325, The Journal of experimental biology, 1994, Palacín, M

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family
score: 4.1631886, Molecular Vision, 2011, Yao, Ke et. al.

Modulation of CRX transactivation activity by phosducin isoforms.
score: 4.16308, Molecular and cellular biology, 2000, Zhu, X; Craft, C M

Molecular cloning and characterization of chemokine-like factor super family member 1 ( CKLFSF1), a novel human gene with at least 23 alternative splicing isoforms in testis tissue
score: 4.1623305, International Journal of Biochemistry and Cell Biology, 2004, Wang, Lu et. al.

Multiple mutations responsible for frequent genetic diseases in isolated populations.
score: 4.1617343, European journal of human genetics : EJHG, 2007, Zlotogora, Joël

Trans-Synaptic Interaction of GluRδ2 and Neurexin through Cbln1 Mediates Synapse Formation in the Cerebellum
score: 4.161323, Cell, 2010, Uemura, Takeshi et. al.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
score: 4.1612253, European journal of human genetics : EJHG, 2011, Fernández-Martínez, Lorena et. al.

Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
score: 4.1595259, European Journal of Medical Genetics, 2007, Wimplinger, Isabella et. al.

Two forms of the basic fibroblast growth factor receptor-like mRNA are expressed in the developing mouse brain.
score: 4.1588235, Proceedings of the National Academy of Sciences of the United States of America, 1990, Reid, H H; Wilks, A F; Bernard, O

A three-allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population.
score: 4.1579431, Clinical genetics, 1996, Puig, O et. al.

Cloning and expression of the cDNA of chicken cation-independent mannose-6-phosphate receptor.
score: 4.1559885, Proceedings of the National Academy of Sciences of the United States of America, 1995, Zhou, M; Ma, Z; Sly, W S

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
score: 4.1556054, European journal of clinical investigation, 2008, Dedoussis, G V Z et. al.

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
score: 4.1554568, Human Molecular Genetics, 2010, Ali, Bassam R. et. al.

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency
score: 4.154475, The American Journal of Pathology, 2009, Li, Qiaoli et. al.

Mutation analysis of the acid β-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase
score: 4.1543935, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2001, Germain, Dominique P. et. al.

Tumorigenic Mutations in VHL Disrupt Folding In Vivo by Interfering with Chaperonin Binding
score: 4.153552, Molecular Cell, 2003, Feldman, Douglas E. et. al.

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
score: 4.1533944, Human mutation, 2011, Wang, Xia et. al.

Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53
score: 4.1527199, Cell, 1992, Livingstone, Laura R. et. al.

DAX1 and its network partners: exploring complexity in development
score: 4.1524085, Molecular Genetics and Metabolism, 2003, Clipsham, Robert; McCabe, Edward R.B

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber’s hereditary optic neuropathy and hearing loss
score: 4.1522035, Biochemical and Biophysical Research Communications, 2007, Wei, Qi-Ping et. al.

UXT interacts with the transcriptional repressor protein EVI1 and suppresses cell transformation.
score: 4.1515478, The FEBS journal, 2007, McGilvray, Roger; Walker, Mark; Bartholomew, Chris

DNA sequence polymorphisms in Alu repeats
score: 4.1508641, Genomics, 1990, Orita, Masato; Sekiya, Takao; Hayashi, Kenshi

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
score: 4.1504372, American journal of medical genetics. Part A, 2010, Dwyer, Ellen; Hyland, James; Modaff, Peggy; Pauli, Richard M

New Perspectives for the Elucidation of Genetic Disorders
score: 4.1504193, The American Journal of Human Genetics, 2007, Ropers, Hans-Hilger

Oncogenes and cell proliferation
score: 4.1502252, Current Opinion in Genetics & Development, 1997,

Heterogeneity of T-lymphocyte function in primary progressive multiple sclerosis: relation to magnetic resonance imaging lesion volume.
score: 4.1496763, Annals of neurology, 2000, Prat, A; Pelletier, D; Duquette, P; Arnold, D L; Antel, J P

Expression of the Elm1 Gene, a Novel Gene of the CCN (Connective Tissue Growth Factor, Cyr61/Cef10, and Neuroblastoma Overexpressed Gene) Family, Suppresses In Vivo Tumor Growth and Metastasis of K-1735 Murine Melanoma Cells
score: 4.1494715, The Journal of Experimental Medicine, 1998, Hashimoto, Yasunobu et. al.

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.
score: 4.1494608, Journal of human genetics, 2008, Rasool, Mahmood et. al.

Identification of a human cDNA encoding a novel protein structurally related to the yeast membrane-associated metalloprotease, Ste24p
score: 4.1493838, BBA - General Subjects, 1999, Kumagai, Hidetoshi et. al.

Mutations inDNA2Link Progressive Myopathy to Mitochondrial DNA Instability
score: 4.1490027, The American Journal of Human Genetics, 2013, Ronchi, Dario et. al.

Application of microarrays to the analysis of the inactivation status of human X-linked genes expressed in lymphocytes.
score: 4.1487669, European journal of human genetics : EJHG, 2004, Craig, Ian W et. al.

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
score: 4.1482101, Journal of human genetics, 2002, Chen, Chia-Hsiang et. al.

Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies
score: 4.1479243, PLoS ONE, 2009, Zhang, Bin et. al.

Identification and characterization of mouse SSX genes: a multigene family on the X chromosome with restricted cancer/testis expression☆
score: 4.1473674, Genomics, 2003, Chen, Yao-Tseng et. al.

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
score: 4.1467231, Experimental Cell Research, 2004, Maita, Hiroshi et. al.

Genomic structure and chromosomal mapping of the human and mouse hippocalcin genes 1 The sequence data in this article have been deposited in the DDBJ/EMBL/GenBank Data libraries under Accession Nos AB015201 and AB015102 for the human hippocalcin gene and AB015199 and AB015200 for the mouse hippocalcin gene. 1
score: 4.1463132, Gene, 1998, Masaki, Tamotsu et. al.

LINE-1 Retrotransposition Activity in Human Genomes
score: 4.1461461, Cell, 2010, Beck, Christine R. et. al.

Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
score: 4.1449315, The Journal of Cell Biology, 2003, Rossoll, Wilfried et. al.

Strategy to Sequence the 89 Exons of the Human LRP1 Gene Coding for the Lipoprotein Receptor Related Protein: Identification of One Expressed Mutation among 48 Polymorphisms
score: 4.1446452, Genomics, 1998, Van Leuven, F; Stas, L; Thiry, E; Nelissen, B; Miyake, Y

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
score: 4.1442068, Human mutation, 2010, Matejas, Verena et. al.

A Ras homologue member I directly inhibits signal transducers and activators of transcription 3 translocation and activity in human breast and ovarian cancer cells.
score: 4.1441776, Cancer research, 2005, Nishimoto, Arata et. al.

Identification and characterization of Veph, a novel gene encoding a PH domain-containing protein expressed in the developing central nervous system of vertebrates
score: 4.1439221, Biochimie, 2004, Muto, Eishun et. al.

A Radiation Hybrid Breakpoint Map of the Acute Myeloid Leukemia (AML) and Limb-Girdle Muscular Dystrophy 1A (LGMD1A) Regions of Chromosome 5q31 Localizing 122 Expressed Sequences
score: 4.1431776, Genomics, 1999, Horrigan, Stephen K. et. al.

Identification and characterization of murine caspase-14, a new member of the caspase family.
score: 4.1422388, Cancer research, 1998, Ahmad, M et. al.

Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus.
score: 4.141916, Proceedings of the National Academy of Sciences of the United States of America, 1992, Klebig, M L; Russell, L B; Rinchik, E M

Identification and characterization of a novel gene EOLA1 stimulating ECV304 cell proliferation
score: 4.1417759, Biochemical and Biophysical Research Communications, 2004, Liang, Ziwen; Yang, Zongcheng

Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane
score: 4.1417169, The Journal of Cell Biology, 2004, Groot, Karen R. et. al.

Evidence for the evolutionary nascence of a novel sex determination pathway in honeybees.
score: 4.1415879, Nature, 2008, Hasselmann, Martin et. al.

Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin.
score: 4.141353, European journal of human genetics : EJHG, 2006, Garner, Chad et. al.

TULIP1 ( RALGAPA1) haploinsufficiency with brain development delay
score: 4.1410409, Genomics, 2009, Shimojima, Keiko et. al.

The sex-specific genetic architecture of quantitative traits in humans.
score: 4.140816, Nature genetics, 2006, Weiss, Lauren A; Pan, Lin; Abney, Mark; Ober, Carole

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene
score: 4.1407658, Neuromuscular Disorders, 2003, Chaouch, M. et. al.

Molecular Cloning, Localization, and Developmental Expression of Mouse Brain Finger Protein (Bfp)/ZNF179: Distribution of bfp mRNA Partially Coincides with the Affected Areas of Smith–Magenis Syndrome
score: 4.1407243, Genomics, 1998, Orimo, Akira et. al.

Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias
score: 4.1406527, The American Journal of Human Genetics, 1999, Mohammad-Panah, Raha et. al.

Cloning, expression, sequence determination, and chromosome localization of the mouse complement C3a anaphylatoxin receptor gene
score: 4.1401136, Molecular Immunology, 1998, Hollma, Travis J. et. al.

A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia.
score: 4.1398846, Clinical genetics, 1997, Vuorio, A F; Turtola, H; Kontula, K

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
score: 4.1398324, The American Journal of Human Genetics, 2012, Rinaldi, Carlo et. al.

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
score: 4.1398324, The American Journal of Human Genetics, 2012, Rinaldi, Carlo et. al.

MEC-17 is an α-tubulin acetyltransferase
score: 4.1395764, Nature, 2010, Akella, Jyothi S. et. al.

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance
score: 4.1393577, Journal of the Neurological Sciences, 2004, Nogales-Gadea, Gisela et. al.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
score: 4.1392227, Brain : a journal of neurology, 2006, Muntoni, F et. al.

Slob, a Novel Protein that Interacts with the Slowpoke Calcium-Dependent Potassium Channel
score: 4.1389485, Neuron, 1998, Schopperle, W.Michael et. al.

Mapping determinants of human gene expression by regional and genome-wide association.
score: 4.1386581, Nature, 2005, Cheung, Vivian G et. al.

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
score: 4.1374698, The American Journal of Human Genetics, 2012, Twigg, Stephen R.F. et. al.

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
score: 4.1374698, The American Journal of Human Genetics, 2012, Twigg, Stephen R.F. et. al.

Characterization of an autoregulated response element in the mouse retinoic acid receptor type beta gene.
score: 4.136769, Proceedings of the National Academy of Sciences of the United States of America, 1990, Sucov, H M; Murakami, K K; Evans, R M

RAP1 protein interacts with yeast telomeres in vivo: Overproduction alters telomere structure and decreases chromosome stability
score: 4.1363437, Cell, 1990, Conrad, Michael N. et. al.

American Founder Mutation for Attenuated Familial Adenomatous Polyposis
score: 4.1359876, Clinical Gastroenterology and Hepatology, 2008, Neklason, Deborah W. et. al.

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.
score: 4.1354118, Acta paediatrica (Oslo, Norway : 1992), 2007, Saugstad, Ola D et. al.

Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H +-ATPase B1-subunit
score: 4.134941, Gene, 2003, Finberg, Karin E. et. al.

Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism
score: 4.1348332, Reproductive BioMedicine Online, 2003, Roh, Jaesook et. al.

A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study
score: 4.133837, The American Journal of Human Genetics, 2003, Schick, James H. et. al.

Characterization of murine CD70, the ligand of the TNF receptor family member CD27.
score: 4.1328146, Journal of immunology (Baltimore, Md. : 1950), 1997, Tesselaar, K et. al.

Molecular cloning and expression of a D1 dopamine receptor linked to adenylyl cyclase activation.
score: 4.1318131, Proceedings of the National Academy of Sciences of the United States of America, 1990, Monsma, F J et. al.

A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome
score: 4.1316169, Molecular Immunology, 2009, Ståhl, Anne-lie et. al.

Transcript map of the human chromosome Xq11–Xq21 region: localization of 33 novel genes and one pseudogene
score: 4.1315962, Gene, 1999, Villard, L. et. al.

Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
score: 4.1314741, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2009, Breyer, Joan P et. al.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
score: 4.1312174, European journal of human genetics : EJHG, 2010, Duker, Angela L et. al.

Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting.
score: 4.1311945, Human molecular genetics, 1999, Dao, D et. al.

CCAAT displacement protein/cut homolog recruits G9a histone lysine methyltransferase to repress transcription.
score: 4.1307778, Proceedings of the National Academy of Sciences of the United States of America, 2004, Nishio, Hitomi; Walsh, Martin J

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
score: 4.130567, Molecular Genetics and Metabolism, 2006, Jung, Ronny et. al.

A nuclear pore complex protein that contains zinc finger motifs, binds DNA, and faces the nucleoplasm
score: 4.1305576, Cell, 1993, Sukegawa, Jun; Blobel, Günter

MacMARCKS, a novel member of the MARCKS family of protein kinase C substrates
score: 4.128554, Cell, 1992, Li, Jianxun; Aderem, Alan

Bladder exstrophy-epispadias complex.
score: 4.1284064, Birth defects research. Part A, Clinical and molecular teratology, 2009, Ludwig, Michael et. al.

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
score: 4.1282033, European journal of human genetics : EJHG, 2004, Zühlke, C H et. al.

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
score: 4.1270168, Clinical genetics, 2001, Altarescu, G M et. al.

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
score: 4.1267599, European journal of human genetics : EJHG, 2009, Vernes, Sonja C et. al.

Zfp423 is required for normal cerebellar development.
score: 4.1262482, Molecular and cellular biology, 2006, Warming, Søren et. al.

Molecular progress in infertility: polycystic ovary syndrome
score: 4.1260636, Fertility and Sterility, 2002, Legro, Richard S; Strauss, Jerome F

Identification of a human protein homologous to the mouse Lyb-2 B cell differentiation antigen and sequence of the corresponding cDNA.
score: 4.1241816, Journal of immunology (Baltimore, Md. : 1950), 1990, Von Hoegen, I; Nakayama, E; Parnes, J R

Genomic Organization and Chromosomal Localization of the Mouse Telencephalin Gene, a Neuronal Member of the ICAM Family
score: 4.1225245, Genomics, 1997, Sugino, Hidehiko et. al.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
score: 4.1219629, European journal of human genetics : EJHG, 2009, Harmsen, May-Britt et. al.

Dosage requirement of Pitx2 for development of multiple organs.
score: 4.1216435, Development (Cambridge, England), 1999, Gage, P J; Suh, H; Camper, S A

Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells
score: 4.1214828, Gene, 2006, Teng, Yun et. al.

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.
score: 4.1214654, Proceedings of the National Academy of Sciences of the United States of America, 2008, Huang, Ningwu et. al.

Characterization and tissue expression of a novel human gene npdc1
score: 4.1213093, Gene, 2001, Qu, Xianghu et. al.

Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson Syndrome
score: 4.1212774, Gastroenterology, 2005, Cebecauerova, Dita et. al.

Neuromuscular disorders: Gene location
score: 4.12105, Neuromuscular Disorders, 1993,

Repeat unit sequence variation in minisatellites: A novel source of DNA polymorphism for studying variation and mutation by single molecule analysis
score: 4.1210425, Cell, 1990, Jeffreys, Alec J.; Neumann, Rita; Wilson, Victoria

A set of duplicons on human chromosome 9 is involved in the origin of a supernumerary marker chromosome
score: 4.1204163, Genomics, 2006, Paulis, Marianna et. al.

Evolutionary aspects, structure, and expression of the rat interleukin 4 gene
score: 4.1195636, Cytokine, 1990, Richter, Günther; Blankenstein, Thomas; Diamantstein, Tibor

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
score: 4.1194873, Cell, 1990, Chelly, Jamel et. al.

Hereditary epidermolytic palmoplantar keratoderma (Vo ̈rner type) in a family with Ehlers-Danlos syndrome
score: 4.1193621, Journal of the American Academy of Dermatology, 1998, Mofid, Mona Zohdi et. al.

BCL8 Is a Novel, Evolutionarily Conserved Human Gene Family Encoding Proteins with Presumptive Protein Kinase A Anchoring Function
score: 4.1192709, Genomics, 2002, Dyomin, Vadim G. et. al.

Structure of the murine mb-1 gene encoding a putative sIgM-associated molecule.
score: 4.1185076, Journal of immunology (Baltimore, Md. : 1950), 1990, Kashiwamura, S et. al.

Congenital muscular dystrophies: 1997 update
score: 4.1179118, Brain and Development, 1998, Voit, Thomas

Genomic interval engineering of mice identifies a novel modulator of triglyceride production.
score: 4.11737, Proceedings of the National Academy of Sciences of the United States of America, 2000, Zhu, Y et. al.

The indeterminate Gene Encodes a Zinc Finger Protein and Regulates a Leaf-Generated Signal Required for the Transition to Flowering in Maize
score: 4.1172959, Cell, 1998, Colasanti, Joseph; Yuan, Zhuang; Sundaresan, Venkatesan

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
score: 4.1170646, Pediatric research, 1998, Tayebi, N et. al.

Variation in optineurin ( OPTN ) allele frequencies between and within populations
score: 4.1165409, Molecular Vision, 2007, Ayala-Lugo, Rosa M. et. al.

Identification of a novel vertebrate circadian clock-regulated gene encoding the protein nocturnin.
score: 4.1163035, Proceedings of the National Academy of Sciences of the United States of America, 1996, Green, C B; Besharse, J C

A cDNA for a human cyclic AMP response element-binding protein which is distinct from CREB and expressed preferentially in brain.
score: 4.1160157, Molecular and cellular biology, 1990, Kara, C J; Liou, H C; Ivashkiv, L B; Glimcher, L H

Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma.
score: 4.1159664, Cell research, 2001, Qin, W X et. al.

Hereditary motor and sensory neuropathy with myelin outfolding: Clinical, genetic and neuropathological study of three cases
score: 4.1153108, Journal of the Neurological Sciences, 1994, Schenone, A. et. al.

A Novel Mouse Model Reveals that Polycystin-1 Deficiency in Ependyma and Choroid Plexus Results in Dysfunctional Cilia and Hydrocephalus
score: 4.1149483, PLoS ONE, 2009, Wodarczyk, Claas et. al.

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency
score: 4.1146226, Pediatric Neurology, 2000, Pons, Roser et. al.

Cloning, Characterization, and Expression of the Human TIN-ag-RP Gene Encoding a Novel Putative Extracellular Matrix Protein
score: 4.1145549, Biochemical and Biophysical Research Communications, 2000, Brömme, Natascha C. et. al.

Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1-1.5 Mb and preparation of a PAC-based physical map.
score: 4.1143644, Proceedings of the National Academy of Sciences of the United States of America, 1997, Zhao, N et. al.

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease
score: 4.1135389, The American Journal of Human Genetics, 2000, Villavicencio, Elisabeth H. et. al.

Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease.
score: 4.1130702, Tissue antigens, 2009, Vidal, C; Borg, J; Xuereb-Anastasi, A; Scerri, C A

Genomic organization of mouse Fc gamma receptor genes.
score: 4.1126316, Proceedings of the National Academy of Sciences of the United States of America, 1990, Kulczycki, A et. al.

Identification of putative c-Myc-responsive genes: characterization of rcl, a novel growth-related gene.
score: 4.1124237, Molecular and cellular biology, 1997, Lewis, B C et. al.

Clinical and pedigree study on familial cases of West syndrome in Japan
score: 4.112137, Brain and Development, 2001, Sugai, Kenji et. al.

HIV-1 Vpr interacts with a human 34-kDa mov34 homologue, a cellular factor linked to the G2/M phase transition of the mammalian cell cycle.
score: 4.1118417, Proceedings of the National Academy of Sciences of the United States of America, 1998, Mahalingam, S et. al.

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
score: 4.1114449, Muscle & nerve, 2010, Hong, Daojun et. al.

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.
score: 4.1108304, Haemophilia : the official journal of the World Federation of Hemophilia, 2003, David, D; Morais, S; Ventura, C; Campos, M

Trinucleotide repeat expansions: do they contribute to bipolar disorder?
score: 4.1100733, Brain Research Bulletin, 2001, Goossens, Dirk et. al.

spr-2, a suppressor of the egg-laying defect caused by loss of sel-12 presenilin in Caenorhabditis elegans, is a member of the SET protein subfamily.
score: 4.1097963, Proceedings of the National Academy of Sciences of the United States of America, 2000, Wen, C; Levitan, D; Li, X; Greenwald, I

IFAP syndrome “plus” seizures, mental retardation, and callosal hypoplasia
score: 4.1097398, Pediatric Neurology, 2001, Bibas-Bonet, Hilda et. al.

A Radiation Hybrid Map of BTA23: Identification of a Chromosomal Rearrangement Leading to Separation of the Cattle MHC Class II Subregions
score: 4.1092098, Genomics, 1998, Band, M; Larson, J.H; Womack, J.E; Lewin, H.A

Molecular cloning, structure, and testis-specific expression of MFSJ1, a member of the DNAJ protein family, in the Japanese monkey ( Macaca fuscata)
score: 4.1091704, Biochemical and Biophysical Research Communications, 2003, Yu, Sung Sook; Takenaka, Osamu

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
score: 4.108974, Molecular Genetics and Metabolism, 2009, Greenberg, Cheryl R. et. al.

Alteration of fatty acid-metabolizing enzymes affects mitochondrial form and functions in hereditary spastic paraplegia
score: 4.1088209, The American Journal of Human Genetics, 2012, Tesson, Christelle et. al.

Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
score: 4.108744, Neuromuscular Disorders, 1997, Udd, Bjarne et. al.

Szt2, a novel gene for seizure threshold in mice.
score: 4.1086637, Genes, brain, and behavior, 2009, Frankel, W N et. al.

Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
score: 4.1080951, The Journal of investigative dermatology, 2004, Ding, Ying-guo et. al.

HNF-3β is essential for node and notochord formation in mouse development
score: 4.1077205, Cell, 1994, Ang, Siew-Lan; Rossant, Janet

Rhodopsin’s Carboxy-Terminal Cytoplasmic Tail Acts as a Membrane Receptor for Cytoplasmic Dynein by Binding to the Dynein Light Chain Tctex-1
score: 4.1072032, Cell, 1999, Tai, Andrew W et. al.

AN UPDATE OF HAIR SHAFT DISORDERS
score: 4.1070928, Dermatologic Clinics, 1996, Dawber, R.P.R.

Cone–Rod Dystrophy, Intrafamilial Variability, and Incomplete Penetrance Associated with the R172W Mutation in the Peripherin/ RDS Gene
score: 4.1069079, Ophthalmology, 2005, Michaelides, Michel et. al.

Molecular cloning and characterization of a novel dual-specificity phosphatase 23 gene from human fetal brain
score: 4.1067982, International Journal of Biochemistry and Cell Biology, 2004, Wu, Qihan et. al.

Two previously undescribed members of the mouse CPEB family of genes and their inducible expression in the principal cell layers of the hippocampus.
score: 4.1063724, Proceedings of the National Academy of Sciences of the United States of America, 2003, Theis, Martin; Si, Kausik; Kandel, Eric R

Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22.
score: 4.1061711, Oncogene, 2001, Cabeza-Arvelaiz, Y et. al.

Localization of candidate regions for a novel gene for Kartagener syndrome.
score: 4.1061083, European journal of human genetics : EJHG, 2006, Gutierrez-Roelens, Ilse et. al.

The TRPM7 Ion Channel Functions in Cholinergic Synaptic Vesicles and Affects Transmitter Release
score: 4.1058254, Neuron, 2006, Krapivinsky, Grigory et. al.

Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice.
score: 4.1056588, Proceedings of the National Academy of Sciences of the United States of America, 2003, Zhang, Zhongqiu et. al.

The immunoglobulin family member dendrite arborization and synapse maturation 1 (Dasm1) controls excitatory synapse maturation.
score: 4.1055857, Proceedings of the National Academy of Sciences of the United States of America, 2004, Shi, Song-Hai; Cheng, Tong; Jan, Lily Yeh; Jan, Yuh-Nung

Identification of a Novel Tetramerization Domain in Large Conductance K Ca Channels
score: 4.1054896, Neuron, 2001, Quirk, Jennifer C; Reinhart, Peter H

Fine mapping and identification of candidate pulmonary adenoma susceptibility 1 genes using advanced intercross lines.
score: 4.1049929, Cancer research, 2003, Wang, Min et. al.

The mitochondrial tRNA Ala T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss
score: 4.1045406, Biochemical and Biophysical Research Communications, 2007, Han, Dongyi et. al.

Identification of two Novel Frameshift Mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy
score: 4.104296, Experimental and Molecular Pathology, 2007, Biagiotti, Laura et. al.

A susceptibility locus at chromosome 3p21 linked to familial nasopharyngeal carcinoma.
score: 4.103867, Cancer research, 2004, Xiong, Wei et. al.

Analysis of transforming activity of human synovial sarcoma-associated chimeric protein SYT-SSX1 bound to chromatin remodeling factor hBRM/hSNF2 alpha.
score: 4.1031478, Proceedings of the National Academy of Sciences of the United States of America, 2001, Nagai, M et. al.

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.
score: 4.1029855, Journal of human genetics, 2011, Nakayama, Junko et. al.

Development of a somatic cell hybrid mapping panel and molecular probes for human chromosome 3
score: 4.102159, Genomics, 1990, Drabkin, H. et. al.

Identification and characterization of a novel human APH-1b splice variant lacking exon 4
score: 4.1015553, Biochemical and Biophysical Research Communications, 2005, Saito, Shinya; Takahashi-Sasaki, Noriko; Araki, Wataru

Characterization of the genomic structure of the mouse limbic system-associated membrane protein ( Lsamp) gene
score: 4.1012737, Genomics, 2004, Pimenta, Aurea F; Levitt, Pat

Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations
score: 4.1012148, Molecular Genetics and Metabolism, 2013, Siriwardena, Komudi et. al.

The drosophila seven-up gene, a member of the steroid receptor gene superfamily, controls photoreceptor cell fates
score: 4.1009026, Cell, 1990, Mlodzik, Marek et. al.

Independent evolution of an antiviral TRIMCyp in rhesus macaques.
score: 4.1007757, Proceedings of the National Academy of Sciences of the United States of America, 2008, Wilson, Sam J et. al.

Genomes and evolution
score: 4.1006333, Current Opinion in Genetics & Development, 1996,

Genetics of human iris colour and patterns.
score: 4.1004784, Pigment cell & melanoma research, 2009, Sturm, Richard A; Larsson, Mats

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
score: 4.1004777, The American Journal of Human Genetics, 2002, Raas-Rothschild, Annick et. al.

The Human Homogentisate 1,2-Dioxygenase ( HGO) Gene
score: 4.1000191, Genomics, 1997, Granadino, B. et. al.

Lco1 is a novel widely expressed lamin-binding protein in the nuclear interior
score: 4.0999481, Experimental Cell Research, 2004, Vlcek, Sylvia; Foisner, Roland; Wilson, Katherine L

p53 Deficiency Rescues the Adverse Effects of Telomere Loss and Cooperates with Telomere Dysfunction to Accelerate Carcinogenesis
score: 4.0995981, Cell, 1999, Chin, Lynda et. al.

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3
score: 4.099344, BMC Genetics, 2001, Mizuno, Yuji et. al.

Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development.
score: 4.0992118, Developmental dynamics : an official publication of the American Association of Anatomists, 2009, Ermakov, Alexander et. al.

A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy
score: 4.0988985, Neuroscience Letters, 1997, Yasuda, Minoru et. al.

Myosin Va mutation in rats is an animal model for the human hereditary neurological disease, Griscelli syndrome type 1.
score: 4.0988116, Annals of the New York Academy of Sciences, 2006, Takagishi, Yoshiko; Murata, Yoshiharu

Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies
score: 4.0980492, The Lancet, 2004, Debiec, Hanna et. al.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
score: 4.0975163, Proceedings of the National Academy of Sciences of the United States of America, 2008, Pera, Alejandra et. al.

Genetic analysis of patients with leukocyte adhesion deficiency
score: 4.0961549, Experimental Hematology, 2002, Roos, Dirk et. al.

Introduction of human apolipoprotein E4 "domain interaction" into mouse apolipoprotein E.
score: 4.0959931, Proceedings of the National Academy of Sciences of the United States of America, 2001, Raffai, R L; Dong, L M; Farese, R V; Weisgraber, K H

Identification of a Bacterial Type III Effector Family with G Protein Mimicry Functions
score: 4.0956792, Cell, 2006, Alto, Neal M. et. al.

Myotonic Dystrophy and Myotonic Dystrophy Protein Kinase
score: 4.0955895, Progress in Histochemistry and Cytochemistry, 2000, Ueda, Hideho; Ohno, Shinichi; Kobayashi, Takayoshi

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation
score: 4.0955073, Neuromuscular Disorders, 2003, Krause, Sabine et. al.

A novel member of the interferon receptor family complements functionality of the murine interferon γ receptor in human cells
score: 4.0954198, Cell, 1994, Hemmi, Silvio et. al.

Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene
score: 4.0948633, The Journal of Pediatrics, 2009, Janošík, Miroslav et. al.

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
score: 4.0946892, European journal of neurology : the official journal of the European Federation of Neurological Societies, 2004, Kawabe, K; Goto, K; Nishino, I; Angelini, C; Hayashi, Y K

Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?
score: 4.0945852, The American Journal of Human Genetics, 1998, Forbes, John R.; Cox, Diane W.

Pex13, the Mouse Ortholog of the Human Peroxisome Biogenesis Disorder PEX13 Gene: Gene Structure, Tissue Expression, and Localization of the Protein to Peroxisomes
score: 4.0943954, Genomics, 2002, Björkman, Jonas; Gould, Stephen J.; Crane, Denis I.

A Flanking Gene Problem Leads to the Discovery of a Gprc5b Splice Variant Predominantly Expressed in C57Bl/6J Mouse Brain and in Maturing Neurons
score: 4.0943375, PLoS ONE, 2010, Cool, Bethany H. et. al.

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
score: 4.0941082, Clinical genetics, 2010, Chao, S-C et. al.

Induction of the Tat-binding protein 1 gene accompanies the disabling of oncogenic erbB receptor tyrosine kinases.
score: 4.093791, Proceedings of the National Academy of Sciences of the United States of America, 1999, Park, B W et. al.

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
score: 4.0933062, The Journal of investigative dermatology, 1999, Sørensen, C B et. al.

Molecular and cellular basis of lysosomal transmembrane protein dysfunction
score: 4.0924752, BBA - Molecular Cell Research, 2009, Ruivo, Raquel et. al.

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients
score: 4.0924266, Molecular Genetics and Metabolism, 2010, Forges, Thierry et. al.

Cloning of a human multispanning membrane protein cDNA: evidence for a new protein family
score: 4.0918068, Gene, 1997, Chluba-de Tapia, Johanna et. al.

Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.
score: 4.0915849, Clinical genetics, 2005, Ponti, G et. al.

Molecular cloning of a novel human protein kinase, kpm, that is homologous to warts/lats, a Drosophila tumor suppressor.
score: 4.0905227, Oncogene, 2000, Hori, T; Takaori-Kondo, A; Kamikubo, Y; Uchiyama, T

Identification and characterization of Psx-2, a novel member of the Psx (placenta-specific homeobox) family
score: 4.0903383, Gene, 2000, Han, Yun Jeong; Lee, Yong Hun; Chun, Jong Yoon

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
score: 4.0899014, European journal of human genetics : EJHG, 2010, García-Villoria, Judit et. al.

Molecular Basis of Mendelian Disorders among Jews
score: 4.0897022, Molecular Genetics and Metabolism, 2000, Zlotogora, Joël; Bach, Gideon; Munnich, Arnold

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
score: 4.0887807, Kidney international, 2006, Caridi, G et. al.

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
score: 4.0887735, Clinical genetics, 2010, Badura-Stronka, M et. al.

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis.
score: 4.0887194, Proceedings of the National Academy of Sciences of the United States of America, 2001, Holbert, S et. al.

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene
score: 4.0884684, American Journal of Kidney Diseases, 2004, Hoefele, Julia et. al.

Ion channel genes and human neurological disease: recent progress, prospects, and challenges.
score: 4.0883113, Proceedings of the National Academy of Sciences of the United States of America, 1999, Cooper, E C; Jan, L Y

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
score: 4.0881713, Proceedings of the National Academy of Sciences of the United States of America, 2009, Garcia-Barcelo, Maria-Mercè et. al.

Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism
score: 4.0875121, Urology, 2004, Feng, Shu et. al.

Familial lecithin-cholesterol acyltransferase deficiency: Biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family
score: 4.087257, Atherosclerosis, 2006, Idzior-Waluś, Barbara et. al.

GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis.
score: 4.0869954, Proceedings of the National Academy of Sciences of the United States of America, 2002, Chang, Aaron N et. al.

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.
score: 4.085987, European journal of human genetics : EJHG, 2011, Kamamoto, Munefumi et. al.

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
score: 4.0858449, Human molecular genetics, 2005, Ferreira, Paulo A

A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation.
score: 4.0855874, Genetics, 2003, Kikkawa, Yoshiaki et. al.

Roles for Laminin in Embryogenesis: Exencephaly, Syndactyly, and Placentopathy in Mice Lacking the Laminin α5 Chain
score: 4.0844097, The Journal of Cell Biology, 1998, Miner, Jeffrey H.; Cunningham, Jeanette; Sanes, Joshua R.

Molecular cloning and characterization of a human gene involved in transcriptional regulation of hTERT
score: 4.0838654, Biochemical and Biophysical Research Communications, 2004, Tang, Zhiwei et. al.

Catweasel mice: A novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome
score: 4.0825884, Developmental Biology, 2009, Bosman, Erika A. et. al.

The Product of par-4, a Gene Induced during Apoptosis, Interacts Selectively with the Atypical Isoforms of Protein Kinase C
score: 4.0824221, Cell, 1996, Díaz-Meco, María T et. al.

Myelin and lymphocyte protein (MAL/MVP17/VIP17) and plasmolipin are members of an extended gene family
score: 4.0822905, Gene, 1997, Magyar, Josef P. et. al.

A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant?
score: 4.0822845, The American Journal of Human Genetics, 1999, Buiting, Karin et. al.

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
score: 4.0816913, Atherosclerosis, 2006, Pisciotta, Livia et. al.

Twenty Drosophila visual system cDNA clones: one is a homolog of human arrestin.
score: 4.0808304, Proceedings of the National Academy of Sciences of the United States of America, 1990, Hyde, D R et. al.

A novel mutation in GJA8 causing congenital cataract–microcornea syndrome in a Chinese pedigree
score: 4.0806332, Molecular Vision, 2010, Hu, Shanshan et. al.

Takusan: A Large Gene Family that Regulates Synaptic Activity
score: 4.0804289, Neuron, 2007, Tu, Shichun et. al.

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
score: 4.0791623, Molecular Vision, 2011, Piñeiro-Gallego, Teresa et. al.

Molecular cloning and characterization of a novel human BTB domain-containing gene, BTBD10, which is down-regulated in glioma
score: 4.0783485, Gene, 2004, Chen, Juxiang et. al.

Nonsense mutations in CABC1/ ADCK3 cause progressive cerebellar ataxia and atrophy
score: 4.0783289, Mitochondrion, 2010, Gerards, Mike et. al.

Molecular characterization of the 50-kD subunit of dynactin reveals function for the complex in chromosome alignment and spindle organization during mitosis
score: 4.0779584, The Journal of Cell Biology, 1996,

Atm knock-in mice harboring an in-frame deletion corresponding to the human ATM 7636del9 common mutation exhibit a variant phenotype.
score: 4.0775985, Cancer research, 2001, Spring, K et. al.

Monogenic vessel diseases related to ischemic stroke: a clinical approach.
score: 4.0771923, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2007, Ballabio, E; Bersano, A; Bresolin, N; Candelise, L

Association of DISC1 with autism and Asperger syndrome.
score: 4.0769937, Molecular psychiatry, 2008, Kilpinen, H et. al.

ZK7, a novel zinc finger gene, is induced by vascular endothelial growth factor and inhibits apoptotic death in hematopoietic cells.
score: 4.0768551, Cancer research, 2000, Kuramoto, K et. al.

Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules
score: 4.0766874, BMC Cell Biology, 2004, Berti, Caterina et. al.

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome
score: 4.0760501, Progress in Biophysics and Molecular Biology, 2008, Bhuiyan, Zahurul A. et. al.

Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees.
score: 4.0757277, Cancer research, 1997, Weber, T K et. al.

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
score: 4.0755172, Proceedings of the National Academy of Sciences of the United States of America, 2005, Chintala, Sreenivasulu et. al.

B30.2-like domain proteins: update and new insights into a rapidly expanding family of proteins.
score: 4.0752206, Molecular biology and evolution, 1998, Henry, J; Mather, I H; McDermott, M F; Pontarotti, P

Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice.
score: 4.0748467, Journal of immunology (Baltimore, Md. : 1950), 2000, Mary, C et. al.

A conserved motif within RAP1 has diversified roles in telomere protection and regulation in different organisms.
score: 4.0744359, Nature structural & molecular biology, 2011, Chen, Yong et. al.

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
score: 4.0742815, Molecular Genetics and Metabolism, 2005, Caldas, Hugo et. al.

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA
score: 4.0742613, The Lancet, 1990, Roberts, R.G. et. al.

New N-terminal located mutation (Q4ter) within the POU1F1-gene ( PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype
score: 4.0740171, Growth Hormone & IGF Research, 2003, Salemi, Souzan et. al.

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
score: 4.0739658, Brain and Development, 2001, Vacca, Marcella et. al.

Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation
score: 4.0733286, Journal of the Neurological Sciences, 2000, Ohi, Takekazu et. al.

Ribp, a Novel Rlk/Txk- and Itk-Binding Adaptor Protein That Regulates T Cell Activation
score: 4.0733235, The Journal of Experimental Medicine, 1999, Rajagopal, Keshava et. al.

Pias3-Dependent SUMOylation Directs Rod Photoreceptor Development
score: 4.0722011, Neuron, 2009, Onishi, Akishi et. al.

Syndromes associated with melanocytic nevi
score: 4.0719849, Journal of the American Academy of Dermatology, 1993, Marghoob, Ashfaq A.; Orlow, Seth J.; Kopf, Alfred W.

Novel and functional norepinephrine transporter protein variants identified in attention-deficit hyperactivity disorder
score: 4.0718434, Neuropharmacology, 2009, Hahn, Maureen K. et. al.

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II
score: 4.0718127, Molecular Genetics and Metabolism, 2007, McCready, M.E. et. al.

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
score: 4.0716445, Molecular Vision, 2009, Zhang, Lu et. al.

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
score: 4.0713599, American journal of medical genetics. Part A, 2010, Bartsch, Oliver et. al.

Germ-line mutation of NKX3.1 cosegregates with hereditary prostate cancer and alters the homeodomain structure and function.
score: 4.0706722, Cancer research, 2006, Zheng, S Lilly et. al.

RUNX Genes in Development and Cancer: Regulation of Viral Gene Expression and the Discovery of RUNX Family Genes
score: 4.0704719, Advances in Cancer Research, 2008, Ito, Yoshiaki

RUNX Genes in Development and Cancer: Regulation of Viral Gene Expression and the Discovery of RUNX Family Genes
score: 4.0704719, Advances in Cancer Research, 2008, Ito, Yoshiaki

Myotonic Dystrophy Protein Kinase (DMPK) Gene Expression in Lymphocytes of Patients with Myotonic Dystrophy
score: 4.0700176, Archives of Medical Research, 2001, Depardon, Francisco et. al.

Lipotransin
score: 4.0697188, Molecular Cell, 1999, Syu, Li-Jyun; Saltiel, Alan R

The mouse genomic instability mutation chaos1 is an allele of Polq that exhibits genetic interaction with Atm.
score: 4.0690707, Molecular and cellular biology, 2004, Shima, Naoko; Munroe, Robert J; Schimenti, John C

Familial Poland anomaly revisited.
score: 4.0687735, American journal of medical genetics. Part A, 2011, Baban, Anwar et. al.

Unique and shared functions of different connexins in mice
score: 4.0685826, Current Biology, 2000, Plum, A. et. al.

Unique and shared functions of different connexins in mice
score: 4.0685826, Current Biology, 2000, Plum, A. et. al.

A protein encoded by a member of the multicopy Ssty gene family located on the long arm of the mouse Y chromosome is expressed during sperm development
score: 4.0677014, Genomics, 2004, Touré, Aminata et. al.

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle
score: 4.0673823, Molecular Genetics and Metabolism, 2012, Ronvelia, Diti et. al.

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle
score: 4.0673823, Molecular Genetics and Metabolism, 2012, Ronvelia, Diti et. al.

Genomic Organization and Isoform-Specific Tissue Expression of Human NAPOR ( CUGBP2) as a Candidate Gene for Familial Arrhythmogenic Right Ventricular Dysplasia
score: 4.0671726, Genomics, 2001, Li, Duanxiang; Bachinski, Linda L.; Roberts, Robert

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer
score: 4.067144, The American Journal of Human Genetics, 2000, Berry, Rebecca et. al.

Cloning and characterization of hSRP1 gamma, a tissue-specific nuclear transport factor.
score: 4.0671254, Proceedings of the National Academy of Sciences of the United States of America, 1998, Nachury, M V; Ryder, U W; Lamond, A I; Weis, K

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q
score: 4.0663768, Genomics, 1992, Jansen, Gert et. al.

Congenital cataract and multisystem disorders.
score: 4.0663503, Eye (London, England), 1999, Cassidy, L; Taylor, D

Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the beta1-adrenergic receptor.
score: 4.066188, Proceedings of the National Academy of Sciences of the United States of America, 1999, Tang, Y et. al.

A Genomic and Functional Inventory of Deubiquitinating Enzymes
score: 4.0651871, Cell, 2005, Nijman, Sebastian M.B. et. al.

BAR: An apoptosis regulator at the intersection of caspases and Bcl-2 family proteins.
score: 4.0646726, Proceedings of the National Academy of Sciences of the United States of America, 2000, Zhang, H et. al.

Diseases caused by defects of mitochondrial carriers: A review
score: 4.0638439, BBA - Bioenergetics, 2008, Palmieri, Ferdinando

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.
score: 4.0635635, European journal of human genetics : EJHG, 2006, Jalkanen, Reetta et. al.

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
score: 4.0634499, American journal of medical genetics. Part A, 2007, Waye, John S et. al.

Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
score: 4.0632346, Cancer research, 1995, Tannergård, P et. al.

A transcription map of the 6p22.3 reading disability locus identifying candidate genes
score: 4.0624396, BMC Genomics, 2003, Londin, Eric R; Meng, Haiying; Gruen, Jeffrey R

Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase α-subunit
score: 4.0619843, Gene, 1990, Koike, Kichiko et. al.

The molecular pathology of pituitary hormone deficiency and resistance
score: 4.0617399, Bailliere's Clinical Endocrinology and Metabolism, 1995, Woods, Katie A.; Weber, Angela; Clark, Adrian J.L.

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.
score: 4.0617037, Kidney international, 2010, Bienaime, Frank et. al.

Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency
score: 4.0613798, Molecular Genetics and Metabolism, 2006, Tamura, Hiroaki et. al.

Neuromuscular disorders: Gene location
score: 4.0607382, Neuromuscular Disorders, 1994,

Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study
score: 4.0607242, The Lancet, 2001, Winther, Jeanette Falck et. al.

Isolation of Yeast Artificial Chromosomes Containing the Entire Transcriptional Unit of the Human FGF1 Gene
score: 4.0606461, Cancer Genetics and Cytogenetics, 1998, Chiu, Ing-Ming; Liu, Yang; Payson, Robert A.

Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
score: 4.059992, The British journal of dermatology, 2005, Credille, K M; Barnhart, K F; Minor, J S; Dunstan, R W

Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation
score: 4.0592069, The American Journal of Human Genetics, 1998, Migeon, Barbara R.; Haisley-Royster, Camille

Characterization of zetin 1/rBSPRY, a novel binding partner of 14-3-3 proteins
score: 4.0587076, Biochemical and Biophysical Research Communications, 2003, Birkenfeld, Jörg et. al.

Isolation and expression of the gene for a major surface protein of Giardia lamblia.
score: 4.0586064, Proceedings of the National Academy of Sciences of the United States of America, 1990, Gillin, F D et. al.

Cloning and localization of hFP S: a six-transmembrane mRNA splice variant of the human FP prostanoid receptor
score: 4.0585365, Archives of Biochemistry and Biophysics, 2004, Vielhauer, George A; Fujino, Hiromichi; Regan, John W

A rare polymorphism affects a Mitogen-Activated Protein kinase site in synapsin III: possible relationship to schizophrenia
score: 4.0581846, Biological Psychiatry, 2004, Porton, Barbara et. al.

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
score: 4.0580018, European journal of human genetics : EJHG, 2008, Floris, Chiara et. al.

Identification and characterization of a novel homozygous deletion in the α- N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)
score: 4.057929, Molecular Genetics and Metabolism, 2010, Champion, Kristen J. et. al.

Novel insertion mutation p.Asp610GlyfsX23 inAPCgene causes familial adenomatous polyposis in Chinese families
score: 4.0577107, Gene, 2013, Song, Guibo; Yuan, Yufeng; Zheng, Fang; Yang, Na

Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
score: 4.0561906, Neuron, 1998, Green, Tim; Heinemann, Stephen F; Gusella, Jim F

Aczonin, a 550-Kd Putative Scaffolding Protein of Presynaptic Active Zones, Shares Homology Regions with Rim and Bassoon and Binds Profilin
score: 4.0561311, The Journal of Cell Biology, 1999, Wang, Xiaolu et. al.

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
score: 4.0560459, Journal of cell science, 2005, Kim, Jun Chul et. al.

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
score: 4.0560388, Genomics, 1990, Ballabio, Andrea et. al.

Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1.
score: 4.0556736, Journal of human genetics, 1999, Hamaguchi, K et. al.

Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.
score: 4.0556681, British journal of haematology, 1998, Higasa, K et. al.

Isolation, cloning, and characterization of a novel rat lung zinc finger gene, RLZF-Y
score: 4.0554132, BBA - Gene Structure and Expression, 1998, Dovat, Sinisa et. al.

Comparative Mapping of Distal Murine Chromosome 11 and Human 17q21.3 in a Region Containing a Modifying Locus for Murine Plasma von Willebrand Factor Level
score: 4.0550596, Genomics, 1998, Mohlke, Karen L. et. al.

Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cells.
score: 4.0549218, Proceedings of the National Academy of Sciences of the United States of America, 1997, Weigmann, A; Corbeil, D; Hellwig, A; Huttner, W B

Mammalian phosphoinositide kinases and phosphatases
score: 4.054707, Progress in Lipid Research, 2009, Sasaki, Takehiko et. al.

Characterization and comparative genomic analysis of intronless Adams with testicular gene expression
score: 4.0543212, Genomics, 2004, Choi, Inchul et. al.

Identification of a novel R642C mutation in NA/CL cotransporter with Gitelman's syndrome
score: 4.0542243, American Journal of Kidney Diseases, 1999, Yahata, Kensei et. al.

The Fukuyama congenital muscular dystrophy story
score: 4.0539924, Neuromuscular Disorders, 2000, Toda, Tatsushi et. al.

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
score: 4.0537793, European journal of human genetics : EJHG, 2007, Flipsen-ten Berg, Klara et. al.

Characterization and in silico mapping of a novel murine zinc finger transcription factor
score: 4.0529544, Gene, 2002, Wride, Michael A. et. al.

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
score: 4.0524213, Nature medicine, 2012, Guo, Wei et. al.

The LDL Receptor Gene Family
score: 4.0520265, Neuron, 2001, Herz, Joachim

Molecular cloning and characterization of six novel isoforms of human Bim, a member of the proapoptotic Bcl-2 family 1 1 The cDNA sequences of Bimα1, Bimα2, Bimβ1, Bimβ2, Bimβ3 and Bimβ4 have been deposited in GenBank under accession numbers AB071195–AB071200.
score: 4.0519759, FEBS Letters, 2001, U, Mami et. al.

Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.
score: 4.0519024, Human molecular genetics, 2007, Besson, Vanessa et. al.

Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs
score: 4.0518834, Gene, 2002, Rampazzo, Chiara et. al.

Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation.
score: 4.0517664, British journal of haematology, 1999, Hunault, M; Arbini, A A; Carew, J A; Bauer, K A

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
score: 4.0515952, American journal of medical genetics. Part A, 2010, Smigiel, Robert et. al.

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
score: 4.0515704, BMC Medical Genetics, 2007, Jordan, ChaRandle et. al.

An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the ‘Legs at odd angles’ ( Loa) mutation
score: 4.0513779, Gene, 2002, Witherden, Abi S et. al.

Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development.
score: 4.0511007, Development (Cambridge, England), 2007, Li, Chaoying et. al.

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
score: 4.0510612, European journal of human genetics : EJHG, 2006, Di Fonzo, Alessio et. al.

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
score: 4.0506453, Human mutation, 2000, Espinosa-Parrilla, Y et. al.

Inactivation of tensin3 in mice results in growth retardation and postnatal lethality
score: 4.0505729, Developmental Biology, 2005, Chiang, Ming-Ko; Liao, Yi-Chun; Kuwabara, Yasuko; Lo, Su Hao

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.
score: 4.0505619, Cancer research, 1996, Montagna, M et. al.

Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5
score: 4.0502948, Journal of the Neurological Sciences, 1990, Wijmenga, Cisca et. al.

Loss of muscle-specific RING-finger 3 predisposes the heart to cardiac rupture after myocardial infarction.
score: 4.0499634, Proceedings of the National Academy of Sciences of the United States of America, 2007, Fielitz, Jens et. al.

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
score: 4.0496765, Human mutation, 2011, Schmid, Fabian et. al.

Gene Sequence, Localization, and Evolutionary Conservation of DAZLA,a Candidate Male Sterility Gene
score: 4.049505, Genomics, 1997, Seboun, E. et. al.

A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1.
score: 4.0494145, Molecular and cellular biology, 2001, Ghosh, A K; Majumder, M; Steele, R; White, R A; Ray, R B

Regulation of B cell homeostasis and activation by the tumor suppressor gene CYLD
score: 4.0489954, The Journal of Experimental Medicine, 2007, Hövelmeyer, Nadine et. al.

Identification of an aggressive prostate cancer predisposing variant at 11q13.
score: 4.0485584, International journal of cancer. Journal international du cancer, 2011, Nurminen, Riikka et. al.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
score: 4.0482755, Neuromuscular Disorders, 2006, Müller, Juliane S. et. al.

The Chinese hamster HPRT gene: Restriction map, sequence analysis, and multiplex PCR deletion screen
score: 4.0480386, Genomics, 1991, Rossiter, Belinda J.F. et. al.

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
score: 4.0478796, Molecular Genetics and Metabolism, 2004, Bykhovskaya, Yelena et. al.

The E6 oncoproteins of high-risk papillomaviruses bind to a novel putative GAP protein, E6TP1, and target it for degradation.
score: 4.0477478, Molecular and cellular biology, 1999, Gao, Q; Srinivasan, S; Boyer, S N; Wazer, D E; Band, V

Inactivating mutations of G protein-coupled receptors and diseases: Structure-function insights and therapeutic implications
score: 4.0474504, Pharmacology and Therapeutics, 2006, Tao, Ya-Xiong

Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis.
score: 4.0467713, Annals of neurology, 2004, Barcellos, Lisa F et. al.

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene
score: 4.0463745, Experimental Hematology, 2006, Erdős, Melinda et. al.

Characterization of the human diacylglycerol kinase ε gene and its assessment as a candidate for inherited retinitis pigmentosa
score: 4.0460074, Gene, 1999, Tang, Wen et. al.

Differentially expressed genes in adult familial myelodysplastic syndromes.
score: 4.0455726, Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 2004, Pradhan, A et. al.

Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain.
score: 4.045207, Proceedings of the National Academy of Sciences of the United States of America, 2004, Nassar, Mohammed A et. al.

Spatial Restriction of PDK1 Activation Cascades by Anchoring to mAKAPα
score: 4.0450787, Molecular Cell, 2005, Carlisle Michel, Jennifer J. et. al.

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
score: 4.0449089, Biological Psychiatry, 2010, Tarabeux, Julien et. al.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
score: 4.0448027, Proceedings of the National Academy of Sciences of the United States of America, 2002, Katsanis, Nicholas et. al.

Expression and genetic analysis of prtb, a gene that encodes a highly conserved proline-rich protein expressed in the brain.
score: 4.0446367, Developmental dynamics : an official publication of the American Association of Anatomists, 1999, Yang, W; Mansour, S L

Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome
score: 4.0442575, Journal of AAPOS, 2009, Murillo-Correa, Claudia E. et. al.

Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
score: 4.0440497, Genetics, 2001, Clark, R M et. al.

Nanog Is the Gateway to the Pluripotent Ground State
score: 4.0440379, Cell, 2009, Silva, Jose et. al.

Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth
score: 4.0433877, Cancer Letters, 2003, Nagai, H. et. al.

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
score: 4.0432148, Genomics, 1991, Scambler, Peter J. et. al.

Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases
score: 4.0424485, Gene, 2007, Peng, Jianbin et. al.

An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse.
score: 4.0421728, Proceedings of the National Academy of Sciences of the United States of America, 2005, Blewitt, Marnie E et. al.

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
score: 4.0414393, Molecular and Cellular Endocrinology, 2010, Targovnik, Héctor M. et. al.

Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.
score: 4.0411961, Proceedings of the National Academy of Sciences of the United States of America, 2002, Jablonka, Sibylle et. al.

Nucleotide Sequencing Analysis of the 146-Kilobase Segment around the IkBLand MICAGenes at the Centromeric End of the HLA Class I Region
score: 4.0404162, Genomics, 1998, Shiina, Takashi et. al.

Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene
score: 4.0401069, The Journal of Pediatrics, 2009, Janošík, Miroslav et. al.

Endothelial adhesion molecule ESAM binds directly to the multidomain adaptor MAGI-1 and recruits it to cell contacts
score: 4.0400922, Experimental Cell Research, 2004, Wegmann, Frank et. al.

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene
score: 4.0398331, International Journal of Pediatric Otorhinolaryngology, 2010, Mahdieh, Nejat et. al.

Clinical characterization and genetic mapping of North Carolina macular dystrophy
score: 4.0395547, Vision Research, 2008, Yang, Zhenglin et. al.

Clinical and molecular aspects of aniridia.
score: 4.039028, Clinical genetics, 2010, Kokotas, H; Petersen, M B

The winged-helix transcription factor HNF-3β is required for notochord development in the mouse embryo
score: 4.0389846, Cell, 1994, Weinstein, Daniel C. et. al.

Cloning and molecular characterization of the novel human melanin-concentrating hormone receptor MCH2.
score: 4.038946, Molecular pharmacology, 2001, Rodriguez, M et. al.

Assessing the impact of population stratification on genetic association studies.
score: 4.0387088, Nature genetics, 2004, Freedman, Matthew L et. al.

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
score: 4.0377147, Neuromuscular Disorders, 2004, Wallgren-Pettersson, Carina et. al.

Involvement of ATM missense variants and mutations in a series of unselected breast cancer cases.
score: 4.0367252, Genes, chromosomes & cancer, 2002, Rodriguez, Carmen et. al.

Identification of a ligand for the c- kit proto-oncogene
score: 4.0364512, Cell, 1990, Williams, Douglas E. et. al.

Genome imprinting regulated by the mouse Polycomb group protein Eed.
score: 4.036432, Nature genetics, 2003, Mager, Jesse et. al.

Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome
score: 4.0358302, Brain and Development, 1990, Clarke, Angus et. al.

Unusual molecular characteristics of a repeat sequence island within a Giemsa-positive band on the mouse X chromosome.
score: 4.0355784, Proceedings of the National Academy of Sciences of the United States of America, 1990, Nasir, J et. al.

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths
score: 4.0342805, Neuromuscular Disorders, 2002, Nelis, Eva et. al.

A novel Krüppel related factor consisting of only a KRAB domain is expressed in the murine trigeminal ganglion
score: 4.0340245, Biochemical and Biophysical Research Communications, 2006, Nikulina, Karina et. al.

Defective B cell development and function in Btk-deficient mice
score: 4.0334016, Immunity, 1995, Khan, Wasif N. et. al.

Differential Expansion of the N-Formylpeptide Receptor Gene Cluster in Human and Mouse
score: 4.032917, Genomics, 1998, Gao, Ji-Liang et. al.

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.
score: 4.032842, Journal of human genetics, 2007, Assis, A M et. al.

Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites
score: 4.032471, Biomedicine & Pharmacotherapy, 1994, Sirugo, G. et. al.

Functional analysis of Asb-1 using genetic modification in mice.
score: 4.0324277, Molecular and cellular biology, 2001, Kile, B T et. al.

Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia
score: 4.0322153, Neuromuscular Disorders, 1997, Rowland, Lewis P. et. al.

Late Infantile Neuronal Ceroid Lipofuscinosis: A New Mutation in Arabs
score: 4.0321527, Pediatric Neurology, 2009, Goldberg-Stern, Hadassa et. al.

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase
score: 4.0321344, Experimental Cell Research, 2005, Kallijärvi, Jukka et. al.

The Fragile X mental retardation protein
score: 4.0310746, Brain Research Bulletin, 2001, Bardoni, Barbara; Schenck, Annette; Mandel, Jean-Louis

Framework YAC Contig Anchored into a 3.2-Mb High-Resolution Physical Map in Proximal 11q13
score: 4.0305076, Genomics, 1997, Courseaux, Anouk et. al.

Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates.
score: 4.0304535, Proceedings of the National Academy of Sciences of the United States of America, 2003, Donaldson, Kathryn M et. al.

Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1
score: 4.0300351, Biochemical and Biophysical Research Communications, 2006, Yin, Weihong; Cheepala, Satish; Clifford, John L.

Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency
score: 4.0297213, Journal of Steroid Biochemistry and Molecular Biology, 1995, Simard, Jacques et. al.

Molecular cloning and characterization of a novel human gene homologous to the murine ecotropic retroviral receptor
score: 4.0291427, Virology, 1991, Yoshimoto, Takayuki; Yoshimoto, Eriko; Meruelo, Daniel

Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues
score: 4.0287968, The Journal of Cell Biology, 1990,

Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t(3;8)(p14.2;q24.1).
score: 4.0281588, Cancer research, 1993, LaForgia, S et. al.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
score: 4.0281272, Molecular Genetics and Metabolism, 2010, Huizing, Marjan et. al.

Nonsyndromic Microcephaly: An Overview
score: 4.0278694, Advances in Pediatrics, 2005, Leroy, Jules G.; Frías, Jaime L.

PrLZ, a novel prostate-specific and androgen-responsive gene of the TPD52 family, amplified in chromosome 8q21.1 and overexpressed in human prostate cancer.
score: 4.0271606, Cancer research, 2004, Wang, Ruoxiang et. al.

The gene for a novel transmembrane protein containing epidermal growth factor and follistatin domains is frequently hypermethylated in human tumor cells.
score: 4.026838, Cancer research, 2000, Liang, G; Robertson, K D; Talmadge, C; Sumegi, J; Jones, P A

Human hereditary hepatic porphyrias
score: 4.0268244, Clinica Chimica Acta, 2002, Nordmann, Yves; Puy, Hervé

Requirement for LIM Homeobox Gene Isl1 in Motor Neuron Generation Reveals a Motor Neuron– Dependent Step in Interneuron Differentiation
score: 4.026772, Cell, 1996, Pfaff, Samuel L. et. al.

The Sycp1Loci of the Mouse Genome: Successive Retropositions of a Meiotic Gene during the Recent Evolution of the Genus
score: 4.0265646, Genomics, 1997, Sage, Julien et. al.

Subtelomeric chromosome aberrations: still a lot to learn.
score: 4.0262811, Clinical genetics, 2005, Moog, U et. al.

Human monocyte chemoattractant protein (MCP)-4 is a novel CC chemokine with activities on monocytes, eosinophils, and basophils induced in allergic and nonallergic inflammation that signals through the CC chemokine receptors (CCR)-2 and -3.
score: 4.0262067, Journal of immunology (Baltimore, Md. : 1950), 1996, Garcia-Zepeda, E A et. al.

c-MET mutational analysis in small cell lung cancer: novel juxtamembrane domain mutations regulating cytoskeletal functions.
score: 4.0260522, Cancer research, 2003, Ma, Patrick C et. al.

Development of mammary hyperplasia and neoplasia in MMTV-TGFα transgenic mice
score: 4.0250205, Cell, 1990, Matsui, Yasuhisa et. al.

Fibroblast Growth Factor 13 Is a Microtubule-Stabilizing Protein Regulating Neuronal Polarization and Migration
score: 4.0248716, Cell, 2012, Wu, Qing-Feng et. al.

Cathepsin J, a novel murine cysteine protease of the papain family with a placenta-restricted expression
score: 4.0245122, FEBS Letters, 1999, Tisljar, Kai; Deussing, Jan; Peters, Christoph

Do the 5′Untranslated Domains of Human cDNAs Challenge the Rules for Initiation of Translation (or Is It Vice Versa)?
score: 4.0243894, Genomics, 2000, Kozak, Marilyn

Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.
score: 4.024321, Human mutation, 1997, Schreiber, W E; Zhang, X; Senz, J; Jamani, A

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
score: 4.0242814, Journal of Cardiac Failure, 2001, Jakobs, Petra M et. al.

The v- rel oncogene encodes a κB enhancer binding protein that inhibits NF-κB function
score: 4.0240527, Cell, 1990, Ballard, Dean W. et. al.

Physical and Transcriptional Map of a 3-Mb Region of Mouse Chromosome 1 Containing the Gene for the Neural Tube Defect Mutant loop-tail( Lp)
score: 4.0238838, Genomics, 1999, Eddleston, Jane et. al.

Origins of human cancer revisited
score: 4.0234306, Cell, 1990, Stanbridge, Eric J.; Nowell, Peter C.

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
score: 4.0225114, Clinical genetics, 2011, Boyadjiev, Simeon A et. al.

Functional Characterization of the Novel APC N1026S Variant Associated With Attenuated Familial Adenomatous Polyposis
score: 4.0224403, Gastroenterology, 2008, Menéndez, Mireia et. al.

Androgenetic mouse embryonic stem cells are pluripotent and cause skeletal defects in chimeras: Implications for genetic imprinting
score: 4.0215577, Cell, 1990, Mann, Jeff R. et. al.

Molecular cloning and characterization of GPA1, a G protein alpha subunit gene from Arabidopsis thaliana.
score: 4.021443, Proceedings of the National Academy of Sciences of the United States of America, 1990, Ma, H; Yanofsky, M F; Meyerowitz, E M

Microtubule-associated protein 1B
score: 4.0213442, The Journal of Cell Biology, 2002, Ding, Jianqing et. al.

The genetics of multiple sclerosis. A review
score: 4.0212981, Biomedicine & Pharmacotherapy, 1999, Kalman, B; Lublin, F.D

Evidence for the evolutionary origin of human chromosome 21 from comparative gene mapping in the cow and mouse.
score: 4.0212426, Proceedings of the National Academy of Sciences of the United States of America, 1991, Threadgill, D S; Kraus, J P; Krawetz, S A; Womack, J E

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
score: 4.0204498, Neuromuscular Disorders, 2003, Ishigaki, Keiko et. al.

A DNAJB Chaperone Subfamily with HDAC-Dependent Activities Suppresses Toxic Protein Aggregation
score: 4.0200775, Molecular Cell, 2010, Hageman, Jurre et. al.

Cloning and Characterization of the Murine Toll-like Receptor 5 ( Tlr5) Gene: Sequence and mRNA Expression Studies in Salmonella-Susceptible MOLF/Ei Mice
score: 4.0199137, Genomics, 2000, Sebastiani, Giovanna et. al.

Impaired Bub1 function in vivo compromises tension-dependent checkpoint function leading to aneuploidy and tumorigenesis.
score: 4.0198475, Cancer research, 2009, Schliekelman, Mark et. al.

Marfan syndrome in China: A collective review of 564 cases among 98 families
score: 4.0198031, American Heart Journal, 1990, Sun, Qi Bin et. al.

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.
score: 4.0194828, European journal of human genetics : EJHG, 2000, Giglio, S et. al.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
score: 4.0193932, Molecular Genetics and Metabolism, 2012, Lamperti, Costanza et. al.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
score: 4.0193932, Molecular Genetics and Metabolism, 2012, Lamperti, Costanza et. al.

A Novel Integrin-Linked Kinase–Binding Protein, Affixin, Is Involved in the Early Stage of Cell–Substrate Interaction
score: 4.0190708, The Journal of Cell Biology, 2001, Yamaji, Satoshi et. al.

BETA3, a novel helix-loop-helix protein, can act as a negative regulator of BETA2 and MyoD-responsive genes.
score: 4.0189591, Molecular and cellular biology, 1996, Peyton, M et. al.

Molecular cloning of mouse acid β-galactosidase cDNA: Sequence, expression of catalytic activity and comparison with the human enzyme
score: 4.0189081, Biochemical and Biophysical Research Communications, 1990, Nanba, Eiji; Suzuki, Kunihiko

Arf tumor suppressor promoter monitors latent oncogenic signals in vivo.
score: 4.0187815, Proceedings of the National Academy of Sciences of the United States of America, 2003, Zindy, Frederique et. al.

Novel Mutations in NPHP4 in a Consanguineous Family With Histological Findings of Focal Segmental Glomerulosclerosis
score: 4.0183342, American Journal of Kidney Diseases, 2007, Mistry, Kirtida et. al.

Genomic organization and functional characterization of the promoter for the human suppressor of cytokine signaling 6 gene
score: 4.0180202, Gene, 2009, Lai, Rai-Hua et. al.

Genes Responsible for Familial Breast Cancer
score: 4.0178789, Pathology - Research and Practice, 1996, Cornelisse, C.J.; Cornelis, R.S.; Devilee, P.

Cloning and characterization of opticin cDNA: evaluation as a candidate for canine oculo-skeletal dysplasia
score: 4.017723, Gene, 2002, Pellegrini, Beth; Acland, Gregory M.; Ray, Jharna

The predominant WT1 isoform (+KTS) encodes a DNA-binding protein targeting the planar cell polarity gene Scribble in renal podocytes.
score: 4.0172462, Molecular cancer research : MCR, 2010, Wells, Julie et. al.

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
score: 4.0171916, European journal of human genetics : EJHG, 2008, Krüger, Stefan et. al.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
score: 4.0169728, European journal of human genetics : EJHG, 2004, Haut, Sandrine et. al.

Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family
score: 4.0169668, European Journal of Surgical Oncology, 2004, Zhu, Z.G et. al.

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
score: 4.0167809, Human mutation, 2010, Riazuddin, S Amer et. al.

Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha- N- acetylgalactosaminidase gene
score: 4.0163669, Gene, 1998, Herrmann, Thomas et. al.

Mutant G-protein-coupled receptors as a cause of human diseases
score: 4.0162069, Pharmacology and Therapeutics, 2004, Schöneberg, Torsten et. al.

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins
score: 4.0159535, Genome Biology, 2002, Hjelmqvist, Lars et. al.

Early embryonic lethality caused by targeted disruption of the TRAF-interacting protein (TRIP) gene
score: 4.0157655, Biochemical and Biophysical Research Communications, 2007, Park, Eui-Soon et. al.

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
score: 4.015294, Proceedings of the National Academy of Sciences of the United States of America, 2011, Xie, Xuefen et. al.

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
score: 4.0151759, Clinical genetics, 2007, Watts, G D J et. al.

The genomic organization, promoter position and expression profile of the mouse MRG15 gene
score: 4.0151127, Gene, 2002, Tominaga, Kaoru; Pereira-Smith, Olivia M.

Inter- and intrafamilial variability in premature pubarche and polycystic ovary syndrome
score: 4.0146608, Fertility and Sterility, 2002, Sanders, Ellen B et. al.

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
score: 4.0146246, European journal of human genetics : EJHG, 2001, Horsley, S W et. al.

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
score: 4.0143398, The FEBS journal, 2009, Daniele, Aurora et. al.

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
score: 4.0138503, Neuroscience Letters, 1998, Stögbauer, Florian et. al.

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
score: 4.0138435, Human molecular genetics, 2000, Monani, U R et. al.

Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.
score: 4.0138359, Proceedings of the National Academy of Sciences of the United States of America, 2005, Haines, Jackie et. al.

Genomewide Scan of Multiple Sclerosis in Finnish Multiplex Families
score: 4.013406, The American Journal of Human Genetics, 1997, Kuokkanen, Satu et. al.

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
score: 4.0119814, Journal of human genetics, 2009, Nakamura, Katsuya et. al.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
score: 4.01174, Proceedings of the National Academy of Sciences of the United States of America, 2005, Jacobson, Samuel G et. al.

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).
score: 4.011467, Annals of the New York Academy of Sciences, 2002, Stratakis, Constantine A

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations
score: 4.0109235, Human Mutation, 2011, Lepri, Francesca et. al.

ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription.
score: 4.0108639, Molecular cancer research : MCR, 2006, Kumar, Raman et. al.

The chloroplast import receptor is an integral membrane protein of chloroplast envelope contact sites
score: 4.0105596, The Journal of Cell Biology, 1990,

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease ( MJD) gene
score: 4.0105427, Genomics, 2004, do Carmo Costa, Maria et. al.

High metastatic potential in mice inheriting a targeted p53 missense mutation.
score: 4.0101785, Proceedings of the National Academy of Sciences of the United States of America, 2000, Liu, G et. al.

NudC-like protein 2 regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90.
score: 4.0098567, Proceedings of the National Academy of Sciences of the United States of America, 2010, Yang, Yuehong et. al.

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
score: 4.0097287, Human reproduction (Oxford, England), 2003, Allen, Linda A et. al.

ARHI is a Ras-related small G-protein with a novel N-terminal extension that inhibits growth of ovarian and breast cancers.
score: 4.0092146, Oncogene, 2003, Luo, Robert Z et. al.

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
score: 4.0091966, Journal of human genetics, 2011, Haghighi, Alireza et. al.

Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod–cone degeneration interval and identifies ancestral disease-transmitting chromosome
score: 4.0086757, Genomics, 2006, Goldstein, Orly et. al.

Analysis of multiple Invs transcripts in mouse and MDCK cells
score: 4.0082966, Genomics, 2004, Ward, HeatherH.; Wang, Jinghong; Phillips, CarrieL.

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene
score: 4.0080066, Molecular Genetics and Metabolism, 2008, Fukao, Toshiyuki; Boneh, Avihu; Aoki, Yusuke; Kondo, Naomi

Initial sequencing and comparative analysis of the mouse genome.
score: 4.0078184, Nature, 2002, Mouse Genome Sequencing Consortium, et. al.

The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies 1 Sequence data from this article have been deposited at the EMBL/NCBI-GenBank Databases under accession number AJ001166. 1
score: 4.0076757, FEBS Letters, 1998, Holzinger, Andreas et. al.

Neuromuscular disorders associated with cerebral malformations
score: 4.007628, Handbook of Clinical Neurology, 2007, Mah, Jean K.

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca 2+-dependent solute carrier gene family
score: 4.0069807, Gene, 2005, Bassi, Maria Teresa et. al.

Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
score: 4.0068317, American journal of medical genetics. Part A, 2007, Turner, Claire L S et. al.

Widespread expression of Huntington's disease gene (IT15) protein product
score: 4.0068289, Neuron, 1995, Sharp, Alan H et. al.

Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1.
score: 4.0066795, Proceedings of the National Academy of Sciences of the United States of America, 2004, Chow, Robert L et. al.

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
score: 4.0062737, European journal of human genetics : EJHG, 2003, Vesel, Samo et. al.

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
score: 4.0053093, European journal of human genetics : EJHG, 2011, Bowne, Sara J et. al.

VCAM-1 on activated endothelium interacts with the leukocyte integrin VLA-4 at a site distinct from the VLA-4/Fibronectin binding site
score: 4.0050802, Cell, 1990, Elices, Mariano J. et. al.

High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
score: 4.004987, Proceedings of the National Academy of Sciences of the United States of America, 1996, Van Hove, J L; Yang, H W; Wu, J Y; Brady, R O; Chen, Y T

Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis.
score: 4.0049151, Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 2003, Qiao, Y et. al.

Molecular genetic analysis of chromosome 11p in familial Wilms tumour.
score: 4.0041363, British Journal of Cancer, 1994, Baird, P. N.; Pritchard, J.; Cowell, J. K.

Molecular genetic analysis of chromosome 11p in familial Wilms tumour.
score: 4.0041363, British journal of cancer, 1994, Baird, P N; Pritchard, J; Cowell, J K

The DNA sequence and biology of human chromosome 19.
score: 4.004048, Nature, 2004, Grimwood, Jane et. al.

Monogenic Dyslipidemias: Window on Determinants of Plasma Lipoprotein Metabolism
score: 4.0039989, The American Journal of Human Genetics, 2001, Hegele, Robert A.

Association of a polymorphism of ABCB1 with obesity in Japanese individuals
score: 4.0038791, Genomics, 2008, Ichihara, Sahoko et. al.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
score: 4.0037476, Molecular Vision, 2010, Liu, Deyuan et. al.

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
score: 4.0020679, Journal of human genetics, 2002, Hattori, Hiroaki et. al.

Identification of new markers in Xp21 between DXS28 (C7) and DMD
score: 4.0020593, Genomics, 1992, Worley, K.C. et. al.

Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.
score: 4.0019072, Clinical genetics, 1990, Yang, H M et. al.

Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
score: 4.0017283, Journal of human genetics, 2001, Mizoguchi, M et. al.

Tumor Suppressor HIC1 Directly Regulates SIRT1 to Modulate p53-Dependent DNA-Damage Responses
score: 4.0014465, Cell, 2005, Chen, Wen Yong et. al.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family
score: 4.0012498, Molecular Vision, 2010, Sheng, Xunlun et. al.

Inner Ear Defects Induced by Null Mutationof the isk Gene
score: 4.0010946, Neuron, 1996, Vetter, Douglas E et. al.

cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4
score: 4.0008585, Brain Research, 2002, Liu, Yaobo et. al.

Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis.
score: 4.0006136, British journal of haematology, 2002, Borensztajn, Keren et. al.

GAIP is membrane-anchored by palmitoylation and interacts with the activated (GTP-bound) form of G alpha i subunits.
score: 4.000224, Proceedings of the National Academy of Sciences of the United States of America, 1996, De Vries, L; Elenko, E; Hubler, L; Jones, T L; Farquhar, M G

Chromosomal, in silico and in vitro Expression Analysis of Cardiovascular-based Genes Encoding Zinc Finger Proteins
score: 4.0001288, Journal of Molecular and Cellular Cardiology, 1999, Dai, Ken-Shwo; Liew, Choong-Chin

Vlgr1 knockout mice show audiogenic seizure susceptibility.
score: 4.0000692, Journal of neurochemistry, 2005, Yagi, Hideshi et. al.

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.
score: 4.000014, Journal of human genetics, 2010, Gabriková, Dana et. al.

Identification of three novel members of the calcium-dependent chloride channel (CaCC) family predominantly expressed in the digestive tract and trachea 1 1 hCaCC-1, hCaCC-2 and hCaCC-3 sequences were deposited in GenBank database under accession numbers: AF127035; AF127036 and AF127980 respectively.
score: 3.9994421, FEBS Letters, 1999, Agnel, Magali; Vermat, Thierry; Culouscou, Jean-Michel

Fv2 encodes a truncated form of the Stk receptor tyrosine kinase.
score: 3.9987245, Nature genetics, 1999, Persons, D A et. al.

Genome-Wide Linkage Scan of Bipolar Disorder in a Colombian Population Isolate Replicates Loci on Chromosomes 7p21–22, 1p31, 16p12 and 21q21–22 and Identifies a Novel Locus on Chromosome 12q
score: 3.9978508, Human Heredity, 2010, Kremeyer, B. et. al.

Novel alternative splicing predicts a secreted extracellular isoform of the human receptor-like protein tyrosine phosphatase LAR
score: 3.9978454, Gene, 1996, Tabiti, Karim et. al.

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
score: 3.9975808, Seminars in Pediatric Neurology, 2009, Doherty, Dan

Meiotic Pachytene Arrest in MLH1-Deficient Mice
score: 3.9962795, Cell, 1996, Edelmann, Winfried et. al.

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
score: 3.9951272, Journal of human genetics, 1998, Sugimoto, N; Iwamoto, S; Hoshino, Y; Kajii, E

Molecular cloning of apobec-1 complementation factor, a novel RNA-binding protein involved in the editing of apolipoprotein B mRNA.
score: 3.9945254, Molecular and cellular biology, 2000, Mehta, A; Kinter, M T; Sherman, N E; Driscoll, D M

Identification of a chloride-formate exchanger expressed on the brush border membrane of renal proximal tubule cells.
score: 3.9942055, Proceedings of the National Academy of Sciences of the United States of America, 2001, Knauf, F et. al.

The human I-mfa domain-containing protein, HIC, interacts with cyclin T1 and modulates P-TEFb-dependent transcription.
score: 3.9933422, Molecular and cellular biology, 2003, Young, Tara M; Wang, Qi; Pe'ery, Tsafi; Mathews, Michael B

The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension
score: 3.9932717, Biochemical and Biophysical Research Communications, 2008, Liu, Yuqi et. al.

MEKK4 Signaling Regulates Filamin Expression and Neuronal Migration
score: 3.9930923, Neuron, 2006, Sarkisian, Matthew R. et. al.

The molecular genetics of familial venous thrombosis
score: 3.9929206, Blood Reviews, 1991, Cooper, D.N.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
score: 3.9928755, Clinical Biochemistry, 2003, Tang, Nelson L.S. et. al.

Transcription-dependent nuclear-cytoplasmic trafficking is required for the function of the von Hippel-Lindau tumor suppressor protein.
score: 3.9923889, Molecular and cellular biology, 1999, Lee, S et. al.

Molecular cloning and characterization of a highly conserved human 67-kDa laminin receptor pseudogene mapping to Xq21.3
score: 3.9918603, Gene, 1998, Richardson, Michael P et. al.

Porphyrias
score: 3.9915169, The Lancet, 2010, Puy, Hervé; Gouya, Laurent; Deybach, Jean-Charles

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.
score: 3.9910041, Eye (London, England), 2004, Parmeggiani, F et. al.

Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia)
score: 3.9909067, Atherosclerosis, 1996, Garuti, R. et. al.

Pim serine/threonine kinases regulate the stability of Socs-1 protein.
score: 3.9907928, Proceedings of the National Academy of Sciences of the United States of America, 2002, Chen, X Peter et. al.

Identification of RALDH-3, a novel retinaldehyde dehydrogenase, expressed in the ventral region of the retina
score: 3.9905016, Mechanisms of Development, 2000, Suzuki, Ryoko et. al.

Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease
score: 3.9904647, Molecular Genetics and Metabolism, 2008, Erdős, Melinda et. al.

Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes.
score: 3.9902879, Journal of cell science, 2004, Simonsen, Anne et. al.

Dcir deficiency causes development of autoimmune diseases in mice due to excess expansion of dendritic cells.
score: 3.9902426, Nature medicine, 2008, Fujikado, Noriyuki et. al.

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.
score: 3.9901194, European journal of human genetics : EJHG, 2009, FitzGerald, Liesel M et. al.

Characterization of a fibrillar collagen gene in sponges reveals the early evolutionary appearance of two collagen gene families.
score: 3.9898914, Proceedings of the National Academy of Sciences of the United States of America, 1990, Exposito, J Y; Garrone, R

GP2/THP gene family of self-binding, GPI-anchored proteins forms a cluster at chromosome 7F1 region in mouse genome
score: 3.9896805, Biochemical and Biophysical Research Communications, 2004, Kobayashi, K.; Yanagihara, K.; Ishiguro, K.; Fukuoka, S.

Proteins related to the Nedd4 family of ubiquitin protein ligases interact with the L domain of Rous sarcoma virus and are required for gag budding from cells.
score: 3.9894103, Proceedings of the National Academy of Sciences of the United States of America, 2001, Kikonyogo, A et. al.

The gene for X-linked kallmann syndrome: a human neuronal migration defect
score: 3.9892072, Current Opinion in Genetics & Development, 1992, Ballabio, Andrea; Camerino, Giovanna

A novel isoform of the 8p22 tumor suppressor gene DLC1 suppresses tumor growth and is frequently silenced in multiple common tumors.
score: 3.9889679, Oncogene, 2011, Low, J S W et. al.

DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis
score: 3.9886192, Genomics, 1990, Towbin, Jeffrey A. et. al.

Targeted Deletion Reveals Essential and Overlapping Functions of the miR-17∼92 Family of miRNA Clusters
score: 3.9881929, Cell, 2008, Ventura, Andrea et. al.

skNAC, a Smyd1-interacting transcription factor, is involved in cardiac development and skeletal muscle growth and regeneration.
score: 3.9874539, Proceedings of the National Academy of Sciences of the United States of America, 2010, Park, Chong Yon et. al.

Clioquinol down-regulates mutant huntingtin expression in vitro and mitigates pathology in a Huntington's disease mouse model.
score: 3.9859322, Proceedings of the National Academy of Sciences of the United States of America, 2005, Nguyen, Trent; Hamby, Aaron; Massa, Stephen M

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
score: 3.9857599, Molecular and Cellular Endocrinology, 2006, Zenaty, Delphine et. al.

Vav3 mediates receptor protein tyrosine kinase signaling, regulates GTPase activity, modulates cell morphology, and induces cell transformation.
score: 3.9857288, Molecular and cellular biology, 2000, Zeng, L et. al.

Hereditary demyelinating motor and sensory neuropathy.
score: 3.9853563, Brain pathology (Zurich, Switzerland), 1993, Gabreëls-Festen, A; Gabreëls, F

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
score: 3.9852324, Proceedings of the National Academy of Sciences of the United States of America, 2010, Seo, Seongjin et. al.

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD + oxidoreductase activity
score: 3.9852227, Pediatric Neurology, 1992, Scalais, Emmanuel et. al.

The mouse Rxrb gene encoding RXRβ: genomic organization and two mRNA isoforms generated by alternative splicing of transcripts initiated from CpG island promoters
score: 3.9852038, Gene, 1994, Nagata, Toshi; Kanno, Yuka; Ozato, Keiko; Taketo, Makoto

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
score: 3.9844509, Neurobiology of Disease, 2007, Mordes, Daniel et. al.

Fragile X Premutations Are Not a Major Cause of Early Menopause
score: 3.9842387, The American Journal of Human Genetics, 1997, Kenneson, Aileen; Cramer, Daniel W.; Warren, Stephen T.

Knock-in human rhodopsin-GFP fusions as mouse models for human disease and targets for gene therapy.
score: 3.9840856, Proceedings of the National Academy of Sciences of the United States of America, 2004, Chan, Fung et. al.

Molecular cloning and neurotrophic activities of a protein with structural similarities to nerve growth factor: developmental and topographical expression in the brain.
score: 3.9837826, Proceedings of the National Academy of Sciences of the United States of America, 1990, Ernfors, P; Ibáñez, C F; Ebendal, T; Olson, L; Persson, H

Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.
score: 3.9834797, Cancer research, 2009, Kuznetsov, Sergey G et. al.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
score: 3.9831623, Molecular Vision, 2011, Ahmad, Adeel et. al.

The gene map of the Norway rat ( Rattus norvegicus) and comparative mapping with mouse and man
score: 3.982798, Genomics, 1991, Levan, Göran et. al.

Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer.
score: 3.9819436, Journal of human genetics, 2009, Guénard, Frédéric et. al.

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.
score: 3.9814159, Proceedings of the National Academy of Sciences of the United States of America, 2011, Urosevic, Jelena et. al.

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the  ACVRL1 gene in a large Arab family: support of homozygous lethality
score: 3.9812713, European Journal of Medical Genetics, 2006, El-Harith, El-Harith A. et. al.

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): Belong the nervous tumours to the phenotype?
score: 3.9811342, European Journal of Medical Genetics, 2008, Morin, Gilles et. al.

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.
score: 3.9810595, European journal of human genetics : EJHG, 2006, Amann-Zalcenstein, Daniela et. al.

Murine Pif1 interacts with telomerase and is dispensable for telomere function in vivo.
score: 3.9810419, Molecular and cellular biology, 2007, Snow, Bryan E et. al.

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
score: 3.9809898, Gastroenterology, 2002, Girelli, Domenico et. al.

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis
score: 3.9809566, Molecular Genetics and Metabolism, 2006, Kakela, Justin K. et. al.

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
score: 3.980848, The Lancet, 2000, Leonard, JV; Schapira, AHV

hDOT1L Links Histone Methylation to Leukemogenesis
score: 3.980599, Cell, 2005, Okada, Yuki et. al.

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
score: 3.9801815, Human mutation, 1999, Mashima, Y et. al.

ZNF265—a novel spliceosomal protein able to induce alternative splicing
score: 3.9794063, The Journal of Cell Biology, 2001, Adams, David J. et. al.

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene
score: 3.9793829, Genomics, 2003, Kibar, Zoha et. al.

Mutations inGBA2Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
score: 3.9792335, The American Journal of Human Genetics, 2013, Hammer, Monia B. et. al.

Identification and characterization of a novel Mt-retrotransposon highly represented in the female mouse germline
score: 3.9792276, Genomics, 2006, Holt, Janet E. et. al.

Generation and analysis of mice with a targeted disruption of the arylamine N-acetyltransferase type 2 gene.
score: 3.9790442, The pharmacogenomics journal, 2003, Cornish, V A et. al.

p53 and the Li-Fraumeni syndrome
score: 3.9788774, BBA - Reviews on Cancer, 1994, Malkin, David

Mouse lysosomal acid lipase: characterization of the gene and analysis of promoter activity
score: 3.9786861, Gene, 1998, Du, Hong; Duanmu, Ming; Rosa Rosa, Lillian

Characterization of a novel gene, STAG1/PMEPA1, upregulated in renal cell carcinoma and other solid tumors.
score: 3.9783602, Molecular carcinogenesis, 2001, Rae, F K; Hooper, J D; Nicol, D L; Clements, J A

Cloning and chromosomal localization of the human BARX2 homeobox protein gene
score: 3.9782294, Gene, 2000, Krasner, Alan et. al.

Analysis of the 5′ regulatory region of the human Norrie’s disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression
score: 3.9770823, Gene, 1999, Kenyon, J.R.; Craig, I.W.

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
score: 3.9766527, Human mutation, 2006, Kim, Gu-Hwan et. al.

Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor 1 Sequence data from this article have been deposited with the GenBank Data Library under accession numbers which are currently pending. 1
score: 3.9758292, Gene, 1998, Xiao, Z.S; Thomas, R; Hinson, T.K; Quarles, L.D

Evolutionary Diversification of SPANX-N Sperm Protein Gene Structure and Expression
score: 3.9755576, PLoS ONE, 2007, Kouprina, Natalay et. al.

Highly penetrant hereditary cancer syndromes.
score: 3.9751665, Oncogene, 2004, Nagy, Rebecca; Sweet, Kevin; Eng, Charis

The PPCD1 Mouse: Characterization of a Mouse Model for Posterior Polymorphous Corneal Dystrophy and Identification of a Candidate Gene
score: 3.9749442, PLoS ONE, 2010, Shen, Anna L. et. al.

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region
score: 3.9747665, BBA - Molecular Basis of Disease, 1995, Wan, Qi; Schuchman, Edward H.

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
score: 3.9746675, American journal of medical genetics. Part A, 2011, Osbun, Nathan et. al.

Advances in hereditary deafness
score: 3.9745669, The Lancet, 2001, Tekin, Mustafa; Arnos, Kathleen S; Pandya, Arti

Apolipoprotein(a) and ischaemic heart disease in familial hypercholesterolaemia
score: 3.9737506, The Lancet, 1990, Wiklund, O et. al.

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
score: 3.9734567, The American Journal of Human Genetics, 2012, Vedrenne, Vanessa et. al.

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
score: 3.9734567, The American Journal of Human Genetics, 2012, Vedrenne, Vanessa et. al.

Functional mutations of the ABCA1 gene in subjects of French–Canadian descent with HDL deficiency
score: 3.9729843, Atherosclerosis, 2006, Alrasadi, Khalid et. al.

Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
score: 3.9729259, Genomics, 2007, Tanaka, Shigekazu et. al.

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients
score: 3.9726522, Molecular Vision, 2009, Tanwar, Mukesh; Dada, Tanuj; Sihota, Ramanjit; Dada, Rima

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
score: 3.972603, Neuromuscular Disorders, 2003, Ammar, Nadia et. al.

The Kelch protein NS1-BP interacts with alpha-enolase/MBP-1 and is involved in c-Myc gene transcriptional control
score: 3.9725094, BBA - Molecular Cell Research, 2007, Perconti, Giovanni et. al.

Seven megabase yeast artificial chromosome contig at region 11p15: identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome.
score: 3.9724477, Cancer research, 1995, Negrini, M et. al.

Novel CFTR mutations in black cystic fibrosis patients.
score: 3.971622, Clinical genetics, 2004, Feuillet-Fieux, M N et. al.

A targeted deleterious allele of the splicing factor SCNM1 in the mouse.
score: 3.9714249, Genetics, 2008, Howell, Viive M et. al.

Molecular analysis of no-on-transient A, a gene required for normal vision in drosophila
score: 3.9704502, Neuron, 1990, Jones, Kevin R.; Rubin, Gerald M.

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
score: 3.9703538, Human mutation, 2011, Holleboom, Adriaan G et. al.

Linkage analysis of familial melanoma and chromosome 6 in 14 Australian kindreds.
score: 3.9699473, Genes, chromosomes & cancer, 1997, Holland, E A; Beaton, S C; Kefford, R F; Mann, G J

An alpha-E-catenin gene trap mutation defines its function in preimplantation development.
score: 3.9697432, Proceedings of the National Academy of Sciences of the United States of America, 1997, Torres, M et. al.

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
score: 3.9696596, Clinical genetics, 1998, Lam, C W et. al.

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
score: 3.9694409, Human mutation, 1998, Yamagishi, H et. al.

Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss
score: 3.9677109, International Journal of Pediatric Otorhinolaryngology, 2010, Yang, Jiann-Jou et. al.

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
score: 3.9676092, Molecular Vision, 2008, Ahmed, Zubair M. et. al.

X-linked tumor suppressors: perplexing inheritance, a unique therapeutic opportunity
score: 3.9675502, Trends in Genetics, 2010, Liu, Yang; Wang, Lizhong; Zheng, Pan

The B1-subunit of the H(+) ATPase is required for maximal urinary acidification.
score: 3.9675404, Proceedings of the National Academy of Sciences of the United States of America, 2005, Finberg, Karin E et. al.

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
score: 3.9672777, Proceedings of the National Academy of Sciences of the United States of America, 2009, Storkebaum, Erik et. al.

Deficiency in a glutamine-specific methyltransferase for release factor causes mouse embryonic lethality.
score: 3.9671917, Molecular and cellular biology, 2010, Liu, Peng et. al.

Structure and Organization of the RBMYGenes on the Human Y Chromosome: Transposition and Amplification of an Ancestral Autosomal hnRNPGGene
score: 3.9670009, Genomics, 1998, Chai, Ning-Ning et. al.

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
score: 3.966963, Pediatric Neurology, 1996, Pons, Roser et. al.

The rat trkC locus encodes multiple neurogenic receptors that exhibit differential response to neurotrophin-3 in PC12 cells
score: 3.9666825, Neuron, 1993, Tsoulfas, Pantelis et. al.

Microtubule Actin Cross-Linking Factor (Macf)
score: 3.9659839, The Journal of Cell Biology, 1999, Leung, Conrad L. et. al.

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
score: 3.9659822, Progress in Retinal and Eye Research, 2008, Boon, Camiel J.F. et. al.

Setting Clock Speed in Mammals: The CK1ɛ tau Mutation in Mice Accelerates Circadian Pacemakers by Selectively Destabilizing PERIOD Proteins
score: 3.9649301, Neuron, 2008, Meng, Qing-Jun et. al.

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
score: 3.9646847, European Journal of Medical Genetics, 2005, Debeer, Ph. et. al.

A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency
score: 3.9642529, Molecular and Cellular Endocrinology, 2006, Lee, Long-Shyong et. al.

Allelic variants of human TCR BV17S1 defined by restriction fragment length polymorphism, single strand conformation polymorphism, and amplification refractory mutation system analyses
score: 3.9642391, Human Immunology, 1996, Li, Yixin et. al.

Genetics of Angelman Syndrome
score: 3.9641082, The American Journal of Human Genetics, 1999, Jiang, Yong-hui et. al.

The amplified mouse squamous cell carcinoma antigen gene locus contains a serpin ( Serpinb3b) that inhibits both papain-like cysteine and trypsin-like serine proteinases
score: 3.9638429, Genomics, 2004, Askew, David J et. al.

Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen
score: 3.9637302, The American Journal of Human Genetics, 2000, Rosenberg, Marjorie J. et. al.

New KIT mutations in patients with piebaldism
score: 3.9637264, Journal of Dermatological Science, 2004, Murakami, Tomoko et. al.

Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk.
score: 3.9635547, Proceedings of the National Academy of Sciences of the United States of America, 2007, Samuelson, David J et. al.

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation
score: 3.9633364, Biochemical and Biophysical Research Communications, 2010, Connolly, Barbara S. et. al.

Multiple tyrosine protein kinases in rat hippocampal neurons: isolation of Ptk-3, a receptor expressed in proliferative zones of the developing brain.
score: 3.9627392, Proceedings of the National Academy of Sciences of the United States of America, 1994, Sánchez, M P et. al.

A Mouse Serine/Threonine Kinase Homologous to C. elegans UNC51 Functions in Parallel Fiber Formation of Cerebellar Granule Neurons
score: 3.9621987, Neuron, 1999, Tomoda, Toshifumi et. al.

Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
score: 3.9618737, Clinical Biochemistry, 2008, Laios, Eleftheria; Glynou, Kyriaki

WAVE3, an actin-polymerization gene, is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma.
score: 3.961559, Oncogene, 2002, Sossey-Alaoui, Khalid et. al.

Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution
score: 3.9614068, Neuron, 1993, Adams, Marvin E. et. al.

Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest.
score: 3.9611979, Molecular and cellular biology, 2006, Nitta, Ryan T et. al.

A gene for freckles maps to chromosome 4q32-q34.
score: 3.9606987, The Journal of investigative dermatology, 2004, Zhang, Xue-Jun et. al.

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
score: 3.9604347, Clinical genetics, 2009, Cotarelo, R P et. al.

Cerebral dysgenesis and lactic acidemia: An MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency
score: 3.9602988, Pediatric Neurology, 1994, Shevell, Michael I. et. al.

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2
score: 3.9602845, Gene Expression Patterns, 2006, Kirfel, Jutta et. al.

Complex behavior of simple repeats: the fragile X syndrome.
score: 3.9594545, Pediatric research, 1995, Oostra, B A; Halley, D J

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
score: 3.9591798, Human mutation, 2008, Borck, Guntram et. al.

The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice.
score: 3.9591538, Proceedings of the National Academy of Sciences of the United States of America, 1998, Yang, X; Li, C; Xu, X; Deng, C

Early embryonic lethality caused by targeted disruption of the mouse selenocysteine tRNA gene (Trsp).
score: 3.9582574, Proceedings of the National Academy of Sciences of the United States of America, 1997, Bösl, M R; Takaku, K; Oshima, M; Nishimura, S; Taketo, M M

LIM protein KyoT2 negatively regulates transcription by association with the RBP-J DNA-binding protein.
score: 3.9572906, Molecular and cellular biology, 1998, Taniguchi, Y; Furukawa, T; Tun, T; Han, H; Honjo, T

Organization of the murine Cd22 locus. Mapping to chromosome 7 and characterization of two alleles.
score: 3.9571395, Journal of immunology (Baltimore, Md. : 1950), 1993, Law, C L et. al.

Cloning, characterisation, and functional expression of the Mus musculus SKD1 gene in yeast demonstrates that the mouse SKD1 and the yeast VPS4 genes are orthologues and involved in intracellular protein trafficking
score: 3.9564446, Gene, 1999, Scheuring, Sibylle et. al.

Primary sequence and heterologous expression of nuclear pore glycoprotein p62
score: 3.9564019, The Journal of Cell Biology, 1990,

Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains.
score: 3.9563315, Journal of cell science, 2009, Aoyama, Takane et. al.

High-Resolution YAC–Cosmid–STS Map of Human Chromosome 13
score: 3.9561988, Genomics, 1998, Cayanis, Eftihia et. al.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts
score: 3.9561662, Molecular Vision, 2008, Li, Feifeng et. al.

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
score: 3.955918, Human mutation, 1999, Seyrantepe, V; Ozguc, M; Coskun, T; Ozalp, I; Reichardt, J K

Mutation and mutagenesis in inherited and acquired human disease
score: 3.9555249, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1996, Evans, H.John

Centriolin Anchoring of Exocyst and SNARE Complexes at the Midbody Is Required for Secretory-Vesicle-Mediated Abscission
score: 3.9553761, Cell, 2005, Gromley, Adam et. al.

Relationships between neurologic disorders and hereditary hearing loss
score: 3.9552888, Seminars in Pediatric Neurology, 2001, Smith, Shelley D.

OPA1 (Kjer Type) Dominant Optic Atrophy: A Novel Mitochondrial Disease
score: 3.955125, Molecular Genetics and Metabolism, 2002, Delettre, Cécile et. al.

Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
score: 3.9549639, Molecular Genetics and Metabolism, 2010, Zhou, Xiangtian et. al.

Identification of MAMDC1 as a Candidate Susceptibility Gene for Systemic Lupus Erythematosus (SLE)
score: 3.954608, PLoS ONE, 2009, Hellquist, Anna et. al.

Promoter analysis of the human translation termination factor 1 gene
score: 3.9541025, Gene, 2003, Dubourg, Christèle et. al.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
score: 3.9537857, Proceedings of the National Academy of Sciences of the United States of America, 2009, Korbel, Jan O et. al.

cDNA surveying of specific tissue expression of human chromosome 19 sequences
score: 3.9537038, Genomics, 1992, Dunne, Patrick W. et. al.

A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the müllerian duct.
score: 3.9532222, Development (Cambridge, England), 1994, Baarends, W M et. al.

Update on genetic disorders affecting white matter
score: 3.9530555, Pediatric Neurology, 2001, Kaye, Edward M

Retinal Dystrophy of Swedish Briard/Briard–Beagle Dogs Is Due to a 4-bp Deletion in RPE65
score: 3.9527916, Genomics, 1999, Veske, Andres et. al.

Mre11 Nuclease Activity Has Essential Roles in DNA Repair and Genomic Stability Distinct from ATM Activation
score: 3.9527883, Cell, 2008, Buis, Jeffrey et. al.

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
score: 3.9521833, Annals of neurology, 1998, Jaksch, M et. al.

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia
score: 3.9519633, BMC Medical Genetics, 2009, Marjamaa, Annukka et. al.

Direct interaction between FcgammaRI (CD64) and periplakin controls receptor endocytosis and ligand binding capacity.
score: 3.9518829, Proceedings of the National Academy of Sciences of the United States of America, 2004, Beekman, Jeffrey M et. al.

The p53-dependent effects of macrophage migration inhibitory factor revealed by gene targeting.
score: 3.9512398, Proceedings of the National Academy of Sciences of the United States of America, 2003, Fingerle-Rowson, G et. al.

Molecular characterization of the human macrophage mannose receptor: demonstration of multiple carbohydrate recognition-like domains and phagocytosis of yeasts in Cos-1 cells
score: 3.9509018, The Journal of Experimental Medicine, 1990,

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
score: 3.9503856, Journal of human genetics, 2011, Martorell, Loreto et. al.

mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?
score: 3.949723, The American Journal of Human Genetics, 1998, Howell, Neil et. al.

A Novel Single-Base Substitution (380C>T) That Activates a 5-Base Downstream Cryptic Splice-Acceptor Site within Exon 5 in Almost All Transcripts in the Human Mitochondrial Acetoacetyl-CoA Thiolase Gene
score: 3.9497145, Molecular Genetics and Metabolism, 2001, Nakamura, Kozue et. al.

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development
score: 3.9496692, The Journal of Pediatrics, 2004, Pedreira, C.C.; Savarirayan, R.; Zacharin, Margaret R.

Distinct Target-Derived Signals Organize Formation, Maturation, and Maintenance of Motor Nerve Terminals
score: 3.9496353, Cell, 2007, Fox, Michael A. et. al.

Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts
score: 3.9492292, BBA - Gene Structure and Expression, 2003, Soares, Miguel Luz et. al.

Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly.
score: 3.9492198, Proceedings of the National Academy of Sciences of the United States of America, 1996, Chen, J et. al.

Mutation analysis of the human pancreatic phospholipase A 2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24
score: 3.9486103, Neuroscience Letters, 1997, Beuten, Joke et. al.

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.
score: 3.9484838, Proceedings of the National Academy of Sciences of the United States of America, 2006, Simchoni, Sharon et. al.

Molecular cloning of TRPC3a, an N-terminally extended, store-operated variant of the human C3 transient receptor potential channel.
score: 3.9482926, Proceedings of the National Academy of Sciences of the United States of America, 2005, Yildirim, Eda; Kawasaki, Brian T; Birnbaumer, Lutz

Cloning of a mouse glucocorticoid modulatory element binding protein, a new member of the KDWK family
score: 3.9482299, FEBS Letters, 2000, Jimenez-Lara, Ana M. et. al.

Targeted disruption of GPR7, the endogenous receptor for neuropeptides B and W, leads to metabolic defects and adult-onset obesity.
score: 3.9482151, Proceedings of the National Academy of Sciences of the United States of America, 2003, Ishii, Makoto; Fei, Hong; Friedman, Jeffrey M

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
score: 3.9468425, Journal of human genetics, 2011, Hadzsiev, Kinga et. al.

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency
score: 3.9466483, The Lancet, 1990, Matsubara, Yoichi et. al.

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
score: 3.9459147, Hepatology (Baltimore, Md.), 2011, Levéen, Per et. al.

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
score: 3.9457717, Clinical genetics, 2003, Uyguner, O et. al.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
score: 3.9457131, Neuromuscular Disorders, 2004, Yasaki, Eriko et. al.

A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island.
score: 3.9455833, Molecular and cellular biology, 2005, Choi, Jonathan D et. al.

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.
score: 3.94511, Human mutation, 2011, Bouilly, Justine et. al.

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin
score: 3.9450023, Neuron, 2009, Poulopoulos, Alexandros et. al.

Genetics, Development, and Malignancy of Melanocytes
score: 3.9448799, International Review of Cytology, 1993, Bennett, D.C.

Identification and characterization of a novel murine multigene family containing a PHD-finger-like motif
score: 3.9445179, Biochemical and Biophysical Research Communications, 2002, Trappe, R et. al.

Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development.
score: 3.944215, Cancer research, 2009, Zeng, Qinghua et. al.

Long-range physical mapping around the human steroid sulfatase locus
score: 3.94407, Genomics, 1990, Ross, Mark T.; Ballabio, Andrea; Craig, Ian W.

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
score: 3.9438571, Nature genetics, 2011, Macgregor, Stuart et. al.

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.
score: 3.9437829, Haemophilia : the official journal of the World Federation of Hemophilia, 2001, Theophilus, B D; Enayat, M S; Williams, M D; Hill, F G

Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development.
score: 3.9436891, Nature genetics, 2002, Golling, Gregory et. al.

Ionizing radiation and genetic risks
score: 3.9435118, Mutation Research-Reviews in Mutation Research, 1999, Sankaranarayanan, K; Chakraborty, R; Boerwinkle, E.A

Mili, a mammalian member of piwi family gene, is essential for spermatogenesis.
score: 3.9430468, Development (Cambridge, England), 2004, Kuramochi-Miyagawa, Satomi et. al.

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
score: 3.9424219, Neurogenetics, 2010, Southgate, Laura et. al.

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay
score: 3.9422789, Molecular Genetics and Metabolism, 2010, Levit, A.; Nutman, D.; Osher, E.; Kamhi, E.; Navon, R.

Functional analysis of human mutations in homeodomain transcription factor PITX3
score: 3.9422722, BMC Molecular Biology, 2007, Sakazume, Satoru et. al.

Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome
score: 3.942156, Hearing Research, 1996, Magovcevic, Ivana; Berson, Eliot L.; Morton, Cynthia C.

DNA sequence and analysis of human chromosome 9.
score: 3.9419504, Nature, 2004, Humphray, S J et. al.

Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis.
score: 3.9419468, Journal of internal medicine, 2001, Schürmann, M et. al.

The C-terminal SET domains of ALL-1 and TRITHORAX interact with the INI1 and SNR1 proteins, components of the SWI/SNF complex.
score: 3.9418463, Proceedings of the National Academy of Sciences of the United States of America, 1998, Rozenblatt-Rosen, O et. al.

Identification and characterization of a new pair of immunoglobulin-like receptors LMIR1 and 2 derived from murine bone marrow-derived mast cells
score: 3.9414432, Biochemical and Biophysical Research Communications, 2003, Kumagai, Hidetoshi et. al.

A double hit implicates DIAPH3 as an autism risk gene.
score: 3.9410684, Molecular psychiatry, 2011, Vorstman, J A S et. al.

Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors.
score: 3.9410434, Proceedings of the National Academy of Sciences of the United States of America, 1999, Wang, Y et. al.

Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif
score: 3.9410332, Matrix Biology, 2003, Elamaa, Harri et. al.

A novel mutation in the G4.5 ( TAZ) gene in a Greek patient with Barth syndrome
score: 3.9410291, Blood Cells, Molecules and Diseases, 2009, Bachou, Theodora et. al.

Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDO.
score: 3.9407702, Molecular and cellular biology, 2006, Zhang, Wei et. al.

Mutations in GBA2 cause autosomal recessive cerebellar ataxia with spasticity
score: 3.9402492, The American Journal of Human Genetics, 2013, Hammer, Monia B. et. al.

The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types.
score: 3.9399682, Proceedings of the National Academy of Sciences of the United States of America, 2002, Hersh, Bradley M; Hartwieg, Erika; Horvitz, H Robert

Laminopathies: Multisystem dystrophy syndromes
score: 3.9397621, Molecular Genetics and Metabolism, 2006, Jacob, Katherine N.; Garg, Abhimanyu

ZNF383, a novel KRAB-containing zinc finger protein, suppresses MAPK signaling pathway
score: 3.9393722, Biochemical and Biophysical Research Communications, 2005, Cao, Lei et. al.

Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12
score: 3.9391999, Genomics, 1990, Donlon, T.A. et. al.

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination.
score: 3.9380955, Journal of cell science, 2008, Patton, Bruce L et. al.

A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
score: 3.937703, Journal of human genetics, 1999, Hopkins, P N et. al.

Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation
score: 3.937628, Biochemical and Biophysical Research Communications, 2009, Zhao, Fuxin et. al.

cDNA Libraries from Single Human Preimplantation Embryos
score: 3.9374168, Genomics, 1997, Adjaye, James; Daniels, Rob; Bolton, Virginia; Monk, Marilyn

A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria
score: 3.9373836, Clinical Biochemistry, 1999, Maeda, Naota et. al.

Human and Mouse ISLR (Immunoglobulin Superfamily Containing Leucine-Rich Repeat) Genes: Genomic Structure and Tissue Expression
score: 3.9372574, Genomics, 1999, Nagasawa, Akemi et. al.

Identification of PIK3C3 promoter variant associated with bipolar disorder and schizophrenia
score: 3.9372045, Biological Psychiatry, 2004, Stopkova, Pavla et. al.

The rat Mist1 gene: structure and promoter characterization
score: 3.9371657, Gene, 2000, Lemercier, C; Brown, A; Mamani, M; Ripoche, J; Reiffers, J

A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension
score: 3.9362992, American Journal of Kidney Diseases, 2006, Godefroid, Nathalie et. al.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
score: 3.9360081, Human mutation, 2013, Callewaert, Bert et. al.

Mismatch repair in extracts of Werner syndrome cell lines.
score: 3.9358137, Cancer research, 1997, Bennett, S E; Umar, A; Oshima, J; Monnat, R J; Kunkel, T A

Generation of novel sequence tagged sites (STSs) from discrete chromosomal regions using Alu-PCR
score: 3.9356437, Genomics, 1991, Cole, C.G.; Goodfellow, P.N.; Bobrow, M.; Bentley, D.R.

Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18
score: 3.9353956, Genomics, 2005, Aijaz, Saima et. al.

Mouse mutants as models for congenital retinal disorders
score: 3.9353535, Experimental Eye Research, 2005, Dalke, Claudia; Graw, Jochen

German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene.
score: 3.9343834, Genes, chromosomes & cancer, 1997, Hamann, U; Brauch, H; Garvin, A M; Bastert, G; Scott, R J

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
score: 3.9339332, BMC Ophthalmology, 2011, Chograni, Manèl et. al.

daf-1, a C. elegans gene controlling dauer larva development, encodes a novel receptor protein kinase
score: 3.9335054, Cell, 1990, Georgi, Laura L.; Albert, Patrice S.; Riddle, Donald L.

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives
score: 3.9328324, Developmental Biology, 2004, Inoue, Takashi et. al.

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.
score: 3.9324281, Clinical and experimental immunology, 2011, Gholam, C; Grigoriadou, S; Gilmour, K C; Gaspar, H B

Identification, molecular cloning, biologic properties, and tissue distribution of a novel isoform of murine low-affinity IgG receptor homologous to human Fc gamma RIIB1.
score: 3.9323702, Journal of immunology (Baltimore, Md. : 1950), 1996, Latour, S; Fridman, W H; Daëron, M

Molecular evidence that homologous recombination occurs in proliferating human somatic cells.
score: 3.9321572, Proceedings of the National Academy of Sciences of the United States of America, 1990, Groden, J; Nakamura, Y; German, J

Cloning of a brain-type isoform of human Rab GDI and its expression in human neuroblastoma cell lines and tumor specimens.
score: 3.9318396, Cancer research, 1995, Nishimura, N et. al.

Dynein mutations impair autophagic clearance of aggregate-prone proteins.
score: 3.9315937, Nature genetics, 2005, Ravikumar, Brinda et. al.

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14
score: 3.9315109, American Journal of Ophthalmology, 2000, Kniazeva, Marina et. al.

Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets
score: 3.9308771, The Lancet, 1990, Reusz, G.S. et. al.

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
score: 3.9308367, The Journal of investigative dermatology, 2000, Kunz, M et. al.

Identification of novel isoforms of the EML4-ALK transforming gene in non-small cell lung cancer.
score: 3.9304689, Cancer research, 2008, Choi, Young Lim et. al.

cDNA Cloning of the Basement Membrane Chondroitin Sulfate Proteoglycan Core Protein, Bamacan: A Five Domain Structure Including Coiled-Coil Motifs
score: 3.9302178, The Journal of Cell Biology, 1997, Wu, Rong-Rong; Couchman, John R.

A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre- loxP recombination system
score: 3.9296832, Biochemical and Biophysical Research Communications, 2005, Kudoh, Hiroe et. al.

Murine Monocyte Chemoattractant Protein (MCP)-5: A Novel CC Chemokine That Is a Structural and Functional Homologue of Human MCP-1
score: 3.9295666, The Journal of Experimental Medicine, 1997, Sarafi, Mindy N. et. al.

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract
score: 3.9292694, Molecular Vision, 2009, Vanita, Vanita et. al.

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
score: 3.9288763, Progress in Retinal and Eye Research, 2003, Thompson, Debra A.; Gal, Andreas

The Drosophila homolog of Down's syndrome critical region 1 gene regulates learning: implications for mental retardation.
score: 3.9286002, Proceedings of the National Academy of Sciences of the United States of America, 2003, Chang, Karen T; Shi, Yi-Jun; Min, Kyung-Tai

Genotypes and phenotypes of Joubert syndrome and related disorders
score: 3.9284245, European Journal of Medical Genetics, 2008, Valente, Enza Maria et. al.

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.
score: 3.928423, British journal of haematology, 2003, Morimoto, Akira et. al.

The cancer antiapoptosis mouse survivin gene: characterization of locus and transcriptional requirements of basal and cell cycle-dependent expression.
score: 3.9281057, Cancer research, 1999, Li, F; Altieri, D C

Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences.
score: 3.9274882, Clinical genetics, 1990, Nichols, W C; Benson, M D

Severe B Cell Deficiency in Mice Lacking the Tec Kinase Family Members Tec and Btk
score: 3.9272397, The Journal of Experimental Medicine, 2000, Ellmeier, Wilfried et. al.

Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer.
score: 3.9269259, British journal of cancer, 2001, Figer, A; Irmin, L; Geva, R; Flex, D; Sulkes, A; Friedman, E

Genetic maps of mouse Chromosome 17 including 12 new anonymous DNA loci and 25 anchor loci
score: 3.9268831, Genomics, 1991, Nadeau, Joseph H. et. al.

Systematic screening for DNA sequence variation in the coding region of the human dopamine transporter gene (DAT1).
score: 3.9267079, Molecular psychiatry, 2000, Grünhage, F et. al.

An interstitial tandem duplication of 9p23-24 coexists with a mutation in the BRCA2 gene in the germ line of three brothers with breast cancer.
score: 3.9266254, Cancer research, 1998, Savelyeva, L et. al.

Cloning and functional expression of rKCNQ2 K + channel from rat brain
score: 3.9265781, Molecular Brain Research, 2000, Jow, Flora; Wang, Ke-Wei

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.
score: 3.9261003, Annals of neurology, 2004, Chang, Yuh Terng et. al.

A zinc finger protein that represses transcription of the human MHC class II gene, DPA.
score: 3.9249256, Journal of immunology (Baltimore, Md. : 1950), 1996, Scholl, T; Stevens, M B; Mahanta, S; Strominger, J L

Brachydactyly
score: 3.9249043, Orphanet Journal of Rare Diseases, 2008, Temtamy, Samia A; Aglan, Mona S

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
score: 3.9248463, American journal of hematology, 2010, Russo, Roberta et. al.

Identification and molecular characterization of BP75, a novel bromodomain-containing protein
score: 3.9248433, FEBS Letters, 1999, Cuppen, Edwin et. al.

Psx, a novel murine homeobox gene expressed in placenta 1 Kumho Life and Environmental Science Laboratory Publication No. 7. 1
score: 3.9247412, Gene, 1998, Han, Yun Jeong et. al.

Late Diagnosis of Primary Hyperoxaluria Type 2 in the Adult: Effect of a Novel Mutation in GRHPR Gene on Enzymatic Activity and Molecular Modeling
score: 3.9245663, The Journal of Urology, 2009, Levin-Iaina, Nomy et. al.

Activation of transcriptional activities of AP1 and SRE by a novel zinc finger protein ZNF445
score: 3.9244491, Gene, 2006, Luo, Kuntian et. al.

A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa
score: 3.924293, Journal of Dermatological Science, 2002, Wu, Yan; Li, Guanqun; Zhu, Xuejun

Directing oncogenic fusion genes into stem cells via an SCL enhancer.
score: 3.9234546, Proceedings of the National Academy of Sciences of the United States of America, 2005, Eguchi, Mariko et. al.

The X chromosome of monotremes shares a highly conserved region with the eutherian and marsupial X chromosomes despite the absence of X chromosome inactivation.
score: 3.9227717, Proceedings of the National Academy of Sciences of the United States of America, 1990, Watson, J M; Spencer, J A; Riggs, A D; Graves, J A

Detection and Cloning of an X-Linked Locus Associated with a NotI Site That Is Not Methylated on Mouse Inactivated X Chromosome by the RLGS-M Method
score: 3.9224016, Genomics, 1999, Takada, Shuji et. al.

Novel activin receptors: Distinct genes and alternative mRNA splicing generate a repertoire of serine/threonine kinase receptors
score: 3.9223902, Cell, 1992, Attisano, Liliana et. al.

A Mutant Drosophila Homolog of Mammalian Clock Disrupts Circadian Rhythms and Transcription of period and timeless
score: 3.9220085, Cell, 1998, Allada, Ravi et. al.

Cloning of the Human Mitochondrial 51 kDa Subunit (NDUFV1) Reveals a 100% Antisense Homology of Its 3′UTR with the 5′UTR of the γ-Interferon Inducible Protein (IP-30) Precursor: Is This a Link between Mitochondrial Myopathy and Inflammation?
score: 3.9219092, Biochemical and Biophysical Research Communications, 1998, Schuelke, Markus et. al.

Tumor-suppressor genes: cardinal factors in inherited predisposition to human cancers.
score: 3.921712, Environmental Health Perspectives, 1992, Evans, H J; Prosser, J

Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.
score: 3.9214739, Molecular and cellular biology, 2010, Landgraf, Kathrin et. al.

Brn-3.2: A Brn-3-related transcription factor with distinctive central nervous system expression and regulation by retinoic acid
score: 3.9213772, Neuron, 1994, Turner, Eric E.; Jenne, Keith J.; Rosenfeld, Michael G.

Deficiency of Myo18B in mice results in embryonic lethality with cardiac myofibrillar aberrations.
score: 3.9213022, Genes to cells : devoted to molecular & cellular mechanisms, 2008, Ajima, Rieko et. al.

Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13
score: 3.9208938, Genomics, 1991, Eubanks, James H. et. al.

Hereditary hypo/de-pigmented dermatoses: an overview.
score: 3.9205088, International journal of dermatology, 2008, Sehgal, Virendra N; Srivastava, Govind

Checklist: Vertebrate homeo☐ genes
score: 3.9202895, Mechanisms of Development, 1996, Stein, Stefan et. al.

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
score: 3.9202069, Epilepsia, 2005, Al-Asmi, Abdullah et. al.

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
score: 3.9195918, Proceedings of the National Academy of Sciences of the United States of America, 2009, Clapcote, Steven J et. al.

Neonatal bleeding in transgenic mice expressing urokinase-type plasminogen activator
score: 3.9195421, Cell, 1990, Heckel, Janice L. et. al.

Molecular genetics of autism spectrum disorder.
score: 3.9195347, Molecular psychiatry, 2004, Veenstra-VanderWeele, J; Cook, E H

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.
score: 3.9194225, American journal of medical genetics. Part A, 2010, Thorson, Laura et. al.

Analysis of partner of inscuteable, a Novel Player of Drosophila Asymmetric Divisions, Reveals Two Distinct Steps in Inscuteable Apical Localization
score: 3.9192505, Cell, 2000, Yu, Fengwei et. al.

A novel human KRAB-containing zinc-finger gene ZNF446 inhibits transcriptional activities of SRE and AP-1
score: 3.9188281, Biochemical and Biophysical Research Communications, 2005, Liu, Fang et. al.

Haplotype block structure of the genomic region of the mu opioid receptor gene ( OPRM1 )
score: 3.9187198, Journal of human genetics, 2010, Levran, Orna et. al.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
score: 3.9186826, Mitochondrion, 2010, Rivera, Henry et. al.

The endogenous retroviral locus ERVWE1 is a bona fide gene involved in hominoid placental physiology.
score: 3.9186061, Proceedings of the National Academy of Sciences of the United States of America, 2004, Mallet, François et. al.

A soluble mouse brain splice variant of type 2alpha corticotropin-releasing factor (CRF) receptor binds ligands and modulates their activity.
score: 3.9185856, Proceedings of the National Academy of Sciences of the United States of America, 2005, Chen, Alon M et. al.

A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31
score: 3.91847, The American Journal of Human Genetics, 1999, Young, Terry-Lynn et. al.

Tripartite motif protein 32 facilitates cell growth and migration via degradation of Abl-interactor 2.
score: 3.9184578, Cancer research, 2008, Kano, Satoshi et. al.

A novel "pearl box" cataract associated with a mutation in the connexin 46 ( GJA3 ) gene
score: 3.9176559, Molecular Vision, 2007, Guleria, Kamlesh et. al.

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: Different molecular mechanisms for galactosemia
score: 3.917641, Genomics, 1992, Reichardt, Juergen K.V. et. al.

Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing
score: 3.9172983, Gene, 1999, Grewal, Prabhjit K. et. al.

Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant
score: 3.9172146, Genomics, 2007, Nag, Nabanita et. al.

Associations and interactions between bare lymphocyte syndrome factors.
score: 3.9169747, Molecular and cellular biology, 2000, DeSandro, A M; Nagarajan, U M; Boss, J M

3849+10 kb C→T mutation and disease severity in cystic fibrosis
score: 3.916968, The Lancet, 1995, Stern, R.C; Doershuk, C.F; Drumm, M

YAC-assisted cloning of a putative G-protein mapping to the MHC class I region
score: 3.916953, Genomics, 1992, Denizot, François et. al.

The human laminin β2 chain (S-Laminin): Structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene
score: 3.9166241, Matrix Biology, 1995, Iivanainen, Antti et. al.

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
score: 3.9165887, American journal of medical genetics. Part A, 2010, Lepichon, Jean-Baptiste et. al.

Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning.
score: 3.9164604, Development (Cambridge, England), 2009, Serluca, Fabrizio C et. al.

Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory.
score: 3.9164465, Proceedings of the National Academy of Sciences of the United States of America, 2007, Zhang, Ying et. al.

Engineering a mouse balancer chromosome.
score: 3.9164303, Nature genetics, 1999, Zheng, B et. al.

A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX.
score: 3.9161721, Proceedings of the National Academy of Sciences of the United States of America, 1998, Li, X; Chen, S; Wang, Q; Zack, D J; Snyder, S H; Borjigin, J

cDNA cloning of two splice variants of a human copper-containing monoamine oxidase pseudogene containing a dimeric Alu repeat sequence 1 The nucleotide sequence data published here have been deposited with the GenBank sequence databank under Accession Nos AF047485 and AF047486. 1
score: 3.9158706, Gene, 1998, Cronin, Ciarán N et. al.

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
score: 3.9157585, Birth defects research. Part A, Clinical and molecular teratology, 2011, McBride, Kim L et. al.

Tenascin-Y: a protein of novel domain structure is secreted by differentiated fibroblasts of muscle connective tissue
score: 3.9156108, The Journal of Cell Biology, 1996,

Normal gonadal development in mice lacking GPBOX, a homeobox protein expressed in germ cells at the onset of sexual dimorphism.
score: 3.9153726, Molecular and cellular biology, 2001, Takasaki, N; Rankin, T; Dean, J

Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration
score: 3.915306, The American Journal of Human Genetics, 1998, Klaver, Caroline C.W. et. al.

Structural organization and mutational analysis of the human uncoupling protein-2 (hUCP2) gene
score: 3.9146877, Life Sciences, 1998, Tu, N. et. al.

Characterization of the gene encoding the hemocyanin subunit e from the tarantula Eurypelma californicum.
score: 3.9146116, Proceedings of the National Academy of Sciences of the United States of America, 1990, Voll, W; Voit, R

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.
score: 3.9144745, Movement disorders : official journal of the Movement Disorder Society, 2008, Glik, Amir et. al.

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
score: 3.914407, Molecular Vision, 2010, Gu, Zhensheng et. al.

Cloning, structure, chromosomal localization and promoter analysis of human 2-oxoglutarate dehydrogenase gene
score: 3.9141791, Biochimica et Biophysica Acta (BBA)/Protein Structure and Molecular Enzymology, 1998, Koike, Kichiko

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
score: 3.9140274, American journal of medical genetics. Part A, 2011, Bazazzadegan, Niloofar et. al.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family
score: 3.9139724, BMC Medical Genetics, 2010, Baasanjav, Sevjidmaa et. al.

Clinical and genetic epidemiology of inherited renal disease in Newfoundland.
score: 3.9136832, Kidney international, 2002, Parfrey, Patrick S; Davidson, William S; Green, Jane S

Parent-of-origin effects in SOX2 anophthalmia syndrome
score: 3.9135108, Molecular Vision, 2011, Osborne, Robert J.; Kurinczuk, Jennifer J.; Ragge, Nicola K.

Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.
score: 3.9134185, The FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1997, Mundlos, S; Olsen, B R

Physical Mapping of the Evolutionary Boundary between Human Chromosomes 21 and 22 on Mouse Chromosome 10
score: 3.9134082, Genomics, 1998, Cole, Susan E.; Wiltshire, Tim; Reeves, Roger H.

The C. elegans Cell Death Specification Gene ces-1 Encodes a Snail Family Zinc Finger Protein
score: 3.9128928, Molecular Cell, 1999, Metzstein, Mark M; Horvitz, H.Robert

Hereditary disorders mimicking and/or causing premature osteoarthritis
score: 3.912645, Best Practice & Research Clinical Rheumatology, 2000, Bálint, Géza; Szebenyi, Béla

A Sequence-Ready BAC/PAC Contig and Partial Transcript Map of Approximately 1.5 Mb in Human Chromosome 17q25 Comprising Multiple Disease Genes
score: 3.9125977, Genomics, 1999, Kuhlenbäumer,, Gregor et. al.

An SP-B Gene Mutation Responsible for SP-B Deficiency in Fatal Congenital Alveolar Proteinosis: Evidence for a Mutation Hotspot in Exon 4
score: 3.912155, Molecular Genetics and Metabolism, 1998, Lin, Zhenwu et. al.

Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene.
score: 3.9120004, Proceedings of the National Academy of Sciences of the United States of America, 2006, Alexander, Warren S et. al.

Molecular cloning and characterization of a novel CXC chemokine macrophage inflammatory protein-2 gamma chemoattractant for human neutrophils and dendritic cells.
score: 3.9118433, Journal of immunology (Baltimore, Md. : 1950), 2000, Cao, X et. al.

δ-catenin, an Adhesive Junction–associated Protein Which Promotes Cell Scattering
score: 3.9118062, The Journal of Cell Biology, 1999, Lu, Qun et. al.

Characterization of a Serine Protease that Cleaves Pro-γ-Melanotropin at the Adrenal to Stimulate Growth
score: 3.911781, Cell, 2001, Bicknell, Andrew B. et. al.

Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae.
score: 3.9115781, Nature genetics, 2002, Ottenhoff, Tom H M et. al.

Chromosome abnormalities and the genetics of congenital corneal opacification
score: 3.9114398, Molecular Vision, 2011, Mataftsi, A. et. al.

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome
score: 3.9114098, Fertility and Sterility, 2007, Georgopoulos, Neoklis A. et. al.

A phosphorylated subpopulation of the histone variant macroH2A1 is excluded from the inactive X chromosome and enriched during mitosis.
score: 3.9109283, Proceedings of the National Academy of Sciences of the United States of America, 2008, Bernstein, Emily et. al.

Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study.
score: 3.9106164, European journal of human genetics : EJHG, 2009, Shih, Wei-Liang et. al.

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
score: 3.9102069, European journal of human genetics : EJHG, 2003, Zühlke, C H et. al.

Five different genes, Eif4a1, Cd68, Supl15h, Sox15 and Fxr2h, are clustered in a 40 kb region of mouse chromosome 11
score: 3.9097791, Gene, 1999, Miyashita, Akinori et. al.

Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits
score: 3.9093402, Molecular Genetics and Metabolism, 2000, Dipple, Katrina M.; McCabe, Edward R.B.

Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease
score: 3.9090061, Neuron, 2010, Walsh, Christopher A.; Engle, Elizabeth C.

Characterization and regional mapping of new anonymous chromosome 20-specific DNA markers isolated from a flow-sorted DNA library
score: 3.9089231, Genomics, 1991, Stolz, Frank-Michael et. al.

Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1.
score: 3.9088388, Cancer research, 2003, Her, Chengtao; Wu, Xiling; Griswold, Michael D; Zhou, Feng

Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family
score: 3.9087692, Mitochondrion, 2007, Qu, Jia et. al.

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
score: 3.9087594, Molecular Genetics and Metabolism, 2006, Zeng, B.J. et. al.

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.
score: 3.9086732, European journal of human genetics : EJHG, 2009, David, Dezso et. al.

Comparative genomic analysis of human and chimpanzee proteases
score: 3.9083218, Genomics, 2005, Puente, Xose S. et. al.

Genome-wide association study identifies three new melanoma susceptibility loci.
score: 3.907453, Nature genetics, 2011, Barrett, Jennifer H et. al.

Differential conservation of transcriptional domains of mammalian Prophet of Pit-1 proteins revealed by structural studies of the bovine gene and comparative functional analysis of the protein
score: 3.9074018, Gene, 2002, Showalter, Aaron D et. al.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
score: 3.9066173, BMC Medical Genetics, 2006, Matolweni, Luzuko O et. al.

The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.
score: 3.9065997, Molecular and cellular biology, 2003, Sukhodolets, Karen E et. al.

Genetic dissection of Alzheimer disease, a heterogeneous disorder.
score: 3.9064953, Proceedings of the National Academy of Sciences of the United States of America, 1995, Schellenberg, G D

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
score: 3.9063364, Human Genomics, 2006, Walsh, Tom et. al.

BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
score: 3.9061109, The American Journal of Human Genetics, 2000, Moslehi, Roxana et. al.

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
score: 3.9057374, Human molecular genetics, 1999, Scholtz, C L et. al.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
score: 3.9054481, Molecular Vision, 2007, Riveiro-Alvarez, R. et. al.

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
score: 3.9050605, Arthritis and rheumatism, 2004, Stojanov, Silvia et. al.

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes.
score: 3.9043367, Proceedings of the National Academy of Sciences of the United States of America, 2008, Lage, Kasper et. al.

Sik (BRK) phosphorylates Sam68 in the nucleus and negatively regulates its RNA binding ability.
score: 3.9034533, Molecular and cellular biology, 2000, Derry, J J et. al.

Sudden infant death syndrome (SIDS) in a family with myosphosphorylase deficiency
score: 3.9020147, Neuromuscular Disorders, 1997, El-Schahawi, M. et. al.

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
score: 3.901954, American journal of medical genetics. Part A, 2010, Zentner, Gabriel E et. al.

Identification of unique transcripts from a mouse full-length, subtracted inner ear cDNA library
score: 3.9018515, Genomics, 2004, Beisel, Kirk W. et. al.

Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
score: 3.901445, Heart Rhythm, 2005, Makita, Naomasa et. al.

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.
score: 3.9012601, Journal of human genetics, 2011, Jeong, Seon-Yong et. al.

Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia
score: 3.901248, Gene, 2007, Shetty, Jagathpala et. al.

Cancer-associated genodermatoses and familial cancer syndromes with cutaneous manifestations
score: 3.901206, Clinics in Dermatology, 2001, Bale, Sherri J; Digiovanna, John J

Mice deficient in oocyte-specific oligoadenylate synthetase-like protein OAS1D display reduced fertility.
score: 3.9011361, Molecular and cellular biology, 2005, Yan, Wei et. al.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
score: 3.9009146, Molecular Vision, 2009, Pras, Eran et. al.

Hereditary unstable DNA: a new explanation for some old genetic questions?
score: 3.9000181, The Lancet, 1991, Sutherland, G.R. et. al.

Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.
score: 3.8996899, European journal of human genetics : EJHG, 2010, Stanke, Frauke et. al.

Cloning and characterization of a sixth adenylyl cyclase isoform: types V and VI constitute a subgroup within the mammalian adenylyl cyclase family.
score: 3.8994105, Proceedings of the National Academy of Sciences of the United States of America, 1992, Katsushika, S et. al.

Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.
score: 3.8993349, Proceedings of the National Academy of Sciences of the United States of America, 2010, Datta, Rupak et. al.

Short telomeres and ataxia-telangiectasia mutated deficiency cooperatively increase telomere dysfunction and suppress tumorigenesis.
score: 3.8992117, Cancer research, 2003, Qi, Ling et. al.

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
score: 3.8987131, The British journal of dermatology, 2005, Shimomura, Y; Sato, N; Kariya, N; Takatsuka, S; Ito, M

Integrated High-Resolution BAC, P1, and Transcript Map of the CHH Region in Chromosome 9p13
score: 3.8985992, Genomics, 1999, Vakkilainen, Tanja et. al.

Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility.
score: 3.8985927, Clinical genetics, 2000, Paoloni-Giacobino, A et. al.

Proapoptotic BH3-only Bcl-2 family member Bik/Blk/Nbk is expressed in hemopoietic and endothelial cells but is redundant for their programmed death.
score: 3.8984533, Molecular and cellular biology, 2004, Coultas, Leigh et. al.

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis
score: 3.897889, Journal of Hepatology, 1997, Datz, Christian et. al.

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
score: 3.8977498, The American Journal of Human Genetics, 2004, Goldgar, David E. et. al.

Human cathepsin S, but not cathepsin L, degrades efficiently MHC class II-associated invariant chain in nonprofessional APCs.
score: 3.8976914, Proceedings of the National Academy of Sciences of the United States of America, 2003, Bania, Jacek et. al.

Paxillin LD4 Motif Binds PAK and PIX through a Novel 95-kD Ankyrin Repeat, ARF–GAP Protein: A Role in Cytoskeletal Remodeling
score: 3.8974873, The Journal of Cell Biology, 1999, Turner, Christopher E. et. al.

Mapping of 228 ESTs and 26 Genes into an Integrated Physical and Genetic Map of Human Chromosome 17
score: 3.8974668, Genomics, 1997, Plummer, Sarah J. et. al.

RNKP-1, a novel natural killer-associated serine protease gene cloned from RNK-16 cytotoxic lymphocytes.
score: 3.8972324, Journal of immunology (Baltimore, Md. : 1950), 1990, Zunino, S J; Bleackley, R C; Martinez, J; Hudig, D

Molecular mechanisms of human single-minded 2 ( SIM2) gene expression: identification of a promoter site in the SIM2 genomic sequence
score: 3.8971179, Gene, 2001, Yamaki, Akiko et. al.

A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer.
score: 3.8963496, Cancer research, 2003, Dunning, Alison M et. al.

Loss of WAVE-1 causes sensorimotor retardation and reduced learning and memory in mice.
score: 3.8962294, Proceedings of the National Academy of Sciences of the United States of America, 2003, Soderling, Scott H et. al.

A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family.
score: 3.8960189, Cancer science, 2003, Mohamed, Zulqarnain et. al.

Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
score: 3.8959735, The Lancet, 1991, Lalloz, M.R.A. et. al.

The Mammalian Golgi Regulates Numb Signaling in Asymmetric Cell Division by Releasing ACBD3 during Mitosis
score: 3.8951714, Cell, 2007, Zhou, Yan et. al.

Novel melanocortin 4 receptor gene mutations in severely obese children.
score: 3.8950929, Clinical endocrinology, 2008, Lee, Yung Seng et. al.

SURF1-associated Leigh syndrome: a case series and novel mutations.
score: 3.8946087, Human mutation, 2012, Lee, Inn-Chi et. al.

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
score: 3.8945248, Journal of the Neurological Sciences, 2001, Namekawa, Michito et. al.

Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torre syndrome phenotype
score: 3.8938095, Journal of Dermatological Science, 2000, Kubota, Takashi et. al.

Collagens and collagen-related matrix components in the human and mouse eye
score: 3.8936859, Progress in Retinal and Eye Research, 2004, Ihanamäki, Tapio; Pelliniemi, Lauri J; Vuorio, Eero

Mutations within the FGF5 gene are associated with hair length in cats.
score: 3.8934668, Animal genetics, 2007, Drögemüller, C; Rüfenacht, S; Wichert, B; Leeb, T

Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen and association study
score: 3.8934056, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2003, Zheng, Siqun L. et. al.

Conservation of the prohormone convertase gene family in metazoa: analysis of cDNAs encoding a PC3-like protein from hydra.
score: 3.8932917, Proceedings of the National Academy of Sciences of the United States of America, 1992, Chan, S J et. al.

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
score: 3.8932425, Journal of human genetics, 2010, Kato, Tomofumi et. al.

The Hectd1 ubiquitin ligase is required for development of the head mesenchyme and neural tube closure
score: 3.8927864, Developmental Biology, 2007, Zohn, Irene E.; Anderson, Kathryn V.; Niswander, Lee

The molecular basis of hereditary palmoplantar keratodermas
score: 3.8926844, Journal of the American Academy of Dermatology, 2002, Kimyai-Asadi, Arash; Kotcher, Lauren B.; Jih, Ming H.

Abrogation of the alternative complement pathway by targeted deletion of murine factor B.
score: 3.8926736, Proceedings of the National Academy of Sciences of the United States of America, 1997, Matsumoto, M et. al.

The murine N-ras gene is not essential for growth and development.
score: 3.8923636, Proceedings of the National Academy of Sciences of the United States of America, 1995, Umanoff, H; Edelmann, W; Pellicer, A; Kucherlapati, R

Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families
score: 3.8922964, Cancer Genetics and Cytogenetics, 2002, Balz, Vera; Prisack, Hans Bernd; Bier, Henning; Bojar, Hans

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
score: 3.8919645, Clinical genetics, 2011, Fullston, T et. al.

Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs
score: 3.8917072, Mechanisms of Development, 2003, Bertolino, Philippe et. al.

An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome
score: 3.8915297, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2002, Balraj, Pauline et. al.

Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study.
score: 3.8912535, Molecular psychiatry, 2011, Voyiaziakis, E et. al.

Fist/Hipk3
score: 3.891181, The Journal of Experimental Medicine, 2000, Rochat-Steiner, Véronique et. al.

A 6-Mb contig-based comparative gene and linkage map of the rat schwannoma tumor suppressor region at 10q32.3
score: 3.8909926, Genomics, 2005, Koelsch, Bernd U. et. al.

cDNA cloning of a Novel 85 kd protein that has SH2 domains and regulates binding of PI3-kinase to the PDGF β-receptor
score: 3.8909831, Cell, 1991, Escobedo, Jaime A. et. al.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
score: 3.8899199, Brain, 2010, Cirak, Sebahattin et. al.

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy
score: 3.889529, Biochemical and Biophysical Research Communications, 2008, Campagna, Filomena et. al.

Molecular characterization of the murine argininosuccinate synthetase locus
score: 3.8888446, Gene, 1991, Surh, Linda C.; Beaudet, Arthur L.; O'Brien, William E.

Transcript Map of a 900-kb Genomic Region in Xp22.1–p22.2: Identification of 12 Novel Genes
score: 3.888501, Genomics, 1998, Warneke-Wittstock, Regina et. al.

History of genetic disease: the molecular genetics of Huntington disease - a history.
score: 3.8877125, Nature reviews. Genetics, 2005, Bates, Gillian P

A Mendelian locus on chromosome 16 determines susceptibility to doxorubicin nephropathy in the mouse.
score: 3.8876235, Proceedings of the National Academy of Sciences of the United States of America, 2005, Zheng, Zongyu et. al.

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer
score: 3.8875326, Cell, 1990, Drumm, Mitchell L. et. al.

Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis.
score: 3.8873095, Genetics, 2008, Johnson, Britt A et. al.

A second tumor necrosis factor receptor gene product can shed a naturally occurring tumor necrosis factor inhibitor.
score: 3.8869548, Proceedings of the National Academy of Sciences of the United States of America, 1990, Kohno, T et. al.

Cep97 and CP110 Suppress a Cilia Assembly Program
score: 3.8856774, Cell, 2007, Spektor, Alexander et. al.

DAXX interacts with heat shock factor 1 during stress activation and enhances its transcriptional activity.
score: 3.8856108, Proceedings of the National Academy of Sciences of the United States of America, 2004, Boellmann, Frank et. al.

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.
score: 3.8855597, Kidney international, 2004, Kudo, Eiji et. al.

Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia
score: 3.8852597, Neuroscience Letters, 2002, Pianese, Luigi et. al.

Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter.
score: 3.8851015, Molecular and cellular biology, 2010, Laflamme, Karina et. al.

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice
score: 3.8846771, Human Molecular Genetics, 2008, Sun, Ying et. al.

Constitutive E2F1 overexpression delays endochondral bone formation by inhibiting chondrocyte differentiation.
score: 3.884396, Molecular and cellular biology, 2003, Scheijen, Blanca et. al.

Autosomal recessive and sporadic deafness in Morocco: High frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant
score: 3.8842215, Hearing Research, 2005, Gazzaz, Bouchaïb et. al.

Cloning and expression of a novel gene for a protein with leucine-rich repeats in the developing mouse nervous system
score: 3.883334, Molecular Brain Research, 1996, Taniguchi, Hiroki; Tohyama, Masaya; Takagi, Tsutomu

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
score: 3.8832884, European journal of human genetics : EJHG, 2009, Mari, Francesca et. al.

Linkage of the Dopamine D4 Receptor Gene and Attention-Deficit/Hyperactivity Disorder
score: 3.8831233, Journal of the American Academy of Child & Adolescent Psychiatry, 2000, SUNOHARA, GLEN A. et. al.

Reduced DNA polytenization of a minichromosome region undergoing position-effect variegation in Drosophila
score: 3.8829657, Cell, 1990, Karpen, Cary H.; Spradling, Allan C.

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
score: 3.8824652, Cancer research, 2003, Seal, Sheila et. al.

Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
score: 3.8821515, Journal of human genetics, 1999, Park, K J et. al.

Selective potentiation of Stat-dependent gene expression by collaborator of Stat6 (CoaSt6), a transcriptional cofactor.
score: 3.8820442, Proceedings of the National Academy of Sciences of the United States of America, 2006, Goenka, Shreevrat; Boothby, Mark

A novel fatty acid-binding protein (FABP) gene resulting from tandem gene duplication in mammals: transcription in rat retina and testis
score: 3.8811267, Genomics, 2008, Liu, Rong-Zong; Li, Xiaodong; Godbout, Roseline

Protein phosphatase 2C binds selectively to and dephosphorylates metabotropic glutamate receptor 3.
score: 3.8807234, Proceedings of the National Academy of Sciences of the United States of America, 2003, Flajolet, Marc et. al.

Snapin interacts with the N-terminus of regulator of G protein signaling 7
score: 3.8806372, Biochemical and Biophysical Research Communications, 2003, Hunt, Rachel A et. al.

Acquired and inherited disorders of cobalamin and folate in children.
score: 3.8800316, British journal of haematology, 2006, Whitehead, V Michael

Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.
score: 3.8798736, Proceedings of the National Academy of Sciences of the United States of America, 1995, Rinchik, E M; Carpenter, D A; Handel, M A

9 Diabetes secondary to genetic disorders
score: 3.8794529, Bailliere's Clinical Endocrinology and Metabolism, 1992, Robinson, Stephen; Kessling, Anna

Genotype–phenotype correlations in Fanconi anemia
score: 3.8793305, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2009, Neveling, Kornelia et. al.

Abnormal melatonin synthesis in autism spectrum disorders.
score: 3.8792938, Molecular psychiatry, 2008, Melke, J et. al.

Characterization of Terminal Deletions at 7q32 and 22q13.3 Healed by De Novo Telomere Addition
score: 3.8792862, The American Journal of Human Genetics, 2000, Varley, Helen et. al.

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations
score: 3.879197, Neuromuscular Disorders, 2007, Palmer, Rachel E. et. al.

Identification of two major loci that suppress hearing loss and cochlear dysmorphogenesis in Eya1 bor/bor mice
score: 3.8789173, Genomics, 2006, Niu, Haoru et. al.

Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na + channel from human small intestine
score: 3.8787602, FEBS Letters, 2000, Schaefer, Lionel et. al.

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).
score: 3.8787563, The Laryngoscope, 1998, Hagiwara, H; Tamagawa, Y; Kitamura, K; Kodera, K

Cloning of rat ABCA7 and its preferential expression in platelets
score: 3.8785174, Biochemical and Biophysical Research Communications, 2003, Sasaki, Mari et. al.

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
score: 3.8785069, Neuromuscular Disorders, 2003, Azzedine, H et. al.

Molecular cloning, expression and regulation of the avian tubby-like protein 1 ( tulp1) gene
score: 3.8784071, Gene, 2001, Heikenwälder, Mathias F. et. al.

The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer.
score: 3.8780911, Cancer research, 1998, Lothe, R A et. al.

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
score: 3.8779452, Journal of human genetics, 2009, Zhang, Zhujun et. al.

Epigenetic and phenotypic consequences of a truncation disrupting the imprinted domain on distal mouse chromosome 7.
score: 3.8775683, Molecular and cellular biology, 2008, Oh, Rosemary et. al.

A model system to study genomic imprinting of human genes.
score: 3.8773639, Proceedings of the National Academy of Sciences of the United States of America, 1998, Gabriel, J M et. al.

Fidelity of G protein beta-subunit association by the G protein gamma-subunit-like domains of RGS6, RGS7, and RGS11.
score: 3.87736, Proceedings of the National Academy of Sciences of the United States of America, 1999, Snow, B E; Betts, L; Mangion, J; Sondek, J; Siderovski, D P

Complete sequence of the Drosophila nonmuscle myosin heavy-chain transcript: conserved sequences in the myosin tail and differential splicing in the 5' untranslated sequence.
score: 3.8771352, Proceedings of the National Academy of Sciences of the United States of America, 1990, Ketchum, A S; Stewart, C T; Stewart, M; Kiehart, D P

Characterization of chicken octamer-binding proteins demonstrates that POU domain-containing homeobox transcription factors have been highly conserved during vertebrate evolution.
score: 3.877046, Proceedings of the National Academy of Sciences of the United States of America, 1990, Petryniak, B et. al.