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 |