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
B3GALTL beta 1,3-galactosyltransferase-like 610308 B3GALTL - Peters' Plus syndrome at LOVD Janneke Weiss, LUMC, Leiden, Nederland
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 137060 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 137060 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
BAG3 BCL2-associated athanogene 3 603883 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
BBS1 Bardet-Biedl syndrome 1 209901 EURO-WABB Open Variation Database Dewi Astuti
BBS1 Bardet-Biedl syndrome 1 209901 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2) Retina International
BBS10 Bardet-Biedl syndrome 10 610148 EURO-WABB Project Open Variation Database Dewi Astuti
BBS12 Bardet-Biedl syndrome 12 610683 EURO-WABB Project Open Variation Database Dewi Astuti
BBS2 Bardet-Biedl syndrome 2 606151 Mutations of the Bardet-Biedl Syndrome Type 2 Gene Retina International
BBS2 Bardet-Biedl syndrome 2 606151 EURO-WABB Open Variation Database Dewi Astuti
BBS4 Bardet-Biedl syndrome 4 600374 Mutations of the Bardet-Biedl Syndrome Type 4 Gene Retina International
BBS4 Bardet-Biedl syndrome 4 600374 EURO-WABB Project Open Variation Database Dewi Astuti
BBS5 Bardet-Biedl syndrome 5 603650 EURO-WABB Project Open Variation Database Dewi Astuti
BBS7 Bardet-Biedl syndrome 7 607590 Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1) Retina International
BBS7 Bardet-Biedl syndrome 7 607590 EURO-WABB Project Open Variation Database Dewi Astuti
BBS9 Bardet-Biedl syndrome 9 607968 EURO-WABB Project Open Variation Database Dewi Astuti
BCAM basal cell adhesion molecule (Lutheran blood group) 111200 Blood Group Antigen Mutation Database Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
BCHE butyrylcholinesterase 177400 ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 606557 B-cell CLL/lymphoma 11A (BCL11A) database Belinda Giardine and Joseph Borg
BCOR BCL6 co-repressor 300485 BCOR database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BCORL1 BCL6 co-repressor-like 1 300688 BCORL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BEND2 BEN domain containing 2 \N BEND2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BEST1 bestrophin 1 607854 University of Regensburg BEST1 database Heidi L. Schulz, Inst. of Human Genetics, University of Regensburg, Germany
BEST1 bestrophin 1 607854 Mutations of the Bestrophin Gene Retina International
BEX2 brain expressed X-linked 2 300691 BEX2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BEX4 brain expressed, X-linked 4 300692 BEX4 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BFSP1 beaded filament structural protein 1, filensin 603307 BFSP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre
BFSP2 beaded filament structural protein 2, phakinin 603212 Human Intermediate Filament Mutation Database W.H.I. McLean, Andrew Cassidy, Epithelial Genetics Group, Univ. Department of Human Genetics, Ninewells Hospital in Dundee, UK
BFSP2 beaded filament structural protein 2, phakinin 603212 BFSP2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre
BGN biglycan 301870 BGN database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BHLHB9 basic helix-loop-helix domain containing, class B, 9 \N BHLHB9 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BIN1 bridging integrator 1 601248 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
BLM Bloom syndrome, RecQ helicase-like 604610 BLMbase: Mutation registry for Bloom Syndrome Mauno Vihinen, Univ. of Tampere, Finland
BLNK B-cell linker 604515 BLNKbase: Mutation registry for BLNK deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
BMP1 bone morphogenetic protein 1 112264 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish
BMP15 bone morphogenetic protein 15 300247 BMP15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BMP2KL BMP2 inducible kinase-like \N BMP2KL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 600799 Hereditary Pulmonary Arterial Hypertension and BMPR2 Gene Database Kelli Sumner, University of Utah, ARUP Laboratories
BMX BMX non-receptor tyrosine kinase 300101 BMX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BRCA1 breast cancer 1, early onset 113705 LOVD - BReast CAncer 1 - literature unclassified variants (BRCA1) Maaike Vreeswijk and Peter Devilee
BRCA1 breast cancer 1, early onset 113705 Breast Cancer Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A.
BRCA1 breast cancer 1, early onset 113705 The UMD BRCA1 mutations database R. Lidereau
BRCA1 breast cancer 1, early onset 113705 Zhejiang University-Adinovo Center BRCA1 Database Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan
BRCA2 breast cancer 2, early onset 600185 Breast Cancer Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A.
BRCA2 breast cancer 2, early onset 600185 Fanconi Anaemia Mutation Database Arleen Auerbach, Rockefeller University, New York, USA
BRCA2 breast cancer 2, early onset 600185 Zhejiang University-Adinovo Center BRCA2 Database Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan
BRCA2 breast cancer 2, early onset 600185 LOVD - BReast CAncer 2 - literature unclassified variants (BRCA2) Maaike Vreeswijk and Peter Devilee
BRIP1 BRCA1 interacting protein C-terminal helicase 1 605882 Fanconi Anaemia Mutation Database Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium
BRWD3 bromodomain and WD repeat domain containing 3 300553 BRWD3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 606158 Inherited Peripheral Neuropathies Mutation Database Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
BSG basigin (Ok blood group) 109480 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
BTD biotinidase 609019 Biotinidase Deficiency and BTD gene Database Melinda Procter, University of Utah, ARUP Laboratories
BTK Bruton agammaglobulinemia tyrosine kinase 300300 BTK database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BTK Bruton agammaglobulinemia tyrosine kinase 300300 BTK base: Mutation registry for X-linked agammaglobulinemia Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland

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