A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
EDA ectodysplasin A 300451 EDA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EDA2R ectodysplasin A2 receptor 300276 EDA2R database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EDN3 endothelin 3 131242 EDN3 database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
EDNRB endothelin receptor type B 131244 EDNRB database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 601548 Mutations of the EGF-containing fibulin-like extracellular matrix protein 1 Retina International
EFHC2 EF-hand domain (C-terminal) containing 2 \N EFHC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EFNB1 ephrin-B1 300035 EFNB1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EGFL6 EGF-like-domain, multiple 6 300239 EGFL6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EGR2 early growth response 2 129010 Mutation Database of Inherited Peripheral Neuropathies Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 604032 EURO-WABB Project Open Variation Database Dewi Astuti
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 300161 EIF2S3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ELANE elastase, neutrophil expressed 130130 ELA2base: Mutation registry for Cyclic and congenital neutropenia Mauno Vihinen, Univ. of Tampere, Tampere, Finland
ELANE elastase, neutrophil expressed 130130 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
ELF4 E74-like factor 4 (ets domain transcription factor) 300775 ELF4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ELK1 ELK1, member of ETS oncogene family 311040 ELK1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 605512 Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene Retina International
EMD emerin 300384 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
EMD emerin 300384 The UMD EMD mutations database G. Bonne, France
ENG endoglin 131195 Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
ENOX2 ecto-NOX disulfide-thiol exchanger 2 300282 ENOX2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EP300 E1A binding protein p300 602700 EP300 - Rubinstein-Taybi Syndrome (RSTS) Dorien Peters, Clinical Genetics, LUMC, Leiden
EPCAM epithelial cell adhesion molecule 185535 InSiGHT - EPCAM Michael Woods, Amanda Dohey and Johan den Dunnen
ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 126340 Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database Belinda Giardine and Joseph Borg
ERMAP erythroblast membrane-associated protein (Scianna blood group) 609017 Blood Group Antigen Mutation Database Olga O. Blumenfeld, Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein, College of Medicine, New York, NY. U.S.A
ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) 609353 ESCO2 database at LOVD Birgitt Schuele, USA
ESX1 ESX homeobox 1 300154 ESX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EXT1 exostoses (multiple) 1 608177 Multiple Osteochondroma Mutation Database Database Administrators
EXT2 exostoses (multiple) 2 608210 Multiple Osteochondroma Mutation Database Database Administrators
EYA4 eyes absent homolog 4 (Drosophila) 603550 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa, Hospitals & Clinics, Iowa city, U.S.A
EZH2 enhancer of zeste homolog 2 (Drosophila) 601573 Mendelian genes (EZH2) LOVD-Team , but with Curator vacancy

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