HGNC GENE SYMBOL
OMIM NO.
|
DATABASE NAME
INTERNET ADDRESS |
CURATORS
|
|
Go Back To Main Index!
|
ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4
601691
|
Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/sci-news/abcrmut.htm
|
Retina International
|
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
603234
|
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
http://www.retina-international.org/sci-news/abcc6mut.htm
|
Retina International
|
ABCD1
ATP-binding cassette, sub-family D (ALD), member 1
300371
|
X-linked Adrenoleukodystrophy Database
http://www.x-ald.nl
|
Hugo W. Moser
Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA.
Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr.
Amsterdam, The Netherlands.
|
ABO
ABO blood group (transferase A, alpha 1-3-N-acetyl
110300
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A
|
ACHE
acetylcholinesterase (YT blood group)
100740
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
ACTC1
actin, alpha, cardiac muscle 1
102540
|
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html
|
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia
|
ACTC1
actin, alpha, cardiac muscle 1
102540
|
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/%7Eseidman/cg3/genes/ACTC_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School.
|
ACVRL1
activin A receptor type II-like 1
601284
|
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://hhtmutation.org/
|
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK
|
ADA
adenosine deaminase
608958
|
ADAbase: Mutation registry for Adenosine Deaminase Deficiency
http://bioinf.uta.fi/ADAbase/
|
Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland
|
ADRB3
adrenergic, beta-3-, receptor
109691
|
Obesity at GeneDis(beta-3-adrenergic receptor)
http://bioinfo.tau.ac.il/GeneDis/Tables/Obesity/Obesity.html
|
Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv University, Israel
|
ADSL
adenylosuccinate lyase
608222
|
Adenylosuccinate Lyase Mutations Database Home Page
http://www.icp.ucl.ac.be/adsldb/
|
Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium
|
AICDA
activation-induced cytidine deaminase
605257
|
AICDA base: Mutation registry for Aid deficiency
http://bioinf.uta.fi/AICDAbase/
|
Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland
|
AIPL1
aryl hydrocarbon receptor interacting protein-like 1
604392
|
Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1
http://www.retina-international.org/sci-news/aipl1mut.htm
|
Retina International
|
AIRE
autoimmune regulator
607358
|
AIREbase: Mutation registry for APECED
http://bioinf.uta.fi/AIREbase/
|
Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland
|
ALB
albumin
103600
|
Albumin mutation database
http://www.albumin.org/
|
Theodore Peters, Jr., Ph.D & Eugene W. Holowachuk, The Mary Imogene Bassett Hospital Research Institute Cooperstown, NY, U.S.A.
|
ALDH1A1
aldehyde dehydrogenase 1 family, member A1
100640
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou,
Agi Pappa,
Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH2
aldehyde dehydrogenase 2 family (mitochondrial)
100650
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH3A1
aldehyde dehydrogenase 3 family, member A1
100660
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org/
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH4A1
aldehyde dehydrogenase 4 family, member A1
606811
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org/
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH9A1
aldehyde dehydrogenase 9 family, member A1
602733
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDOB
aldolase B, fructose-bisphosphate
229600
|
Hereditary Fructose Intolerance/Aldolase
http://www.bu.edu/aldolase/
|
Dean R. Tolan, Boston Univ., U.S.A.
|
ALG1
asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
605907
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs Center for Human Genetics Leuven, Belgium
|
ALG12
asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
607144
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG2
asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)
607905
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG3
asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)
608750
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG6
asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)
604566
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG8
asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
608103
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG9
asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)
606941
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALPL
alkaline phosphatase, liver/bone/kidney
171760
|
Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
http://www.sesep.uvsq.fr/Database.html
|
Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France
|
ANK2
ankyrin 2, neuronal
106410
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting
Int. Albinism Centre Univ. of Minnesota, U.S.A.
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
http://bioinf.uta.fi/AP3B1base/
|
Mauno Vihinen, Univ. of Tampere, Finland
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
Mutations of the Adaptin b3a Gene
http://www.retina-international.org/sci-news/adtb3mut.htm
|
Retina International
|
APC
adenomatosis polyposis coli
175100
|
Adenomatous polyposis coli mutation database
http://p53.free.fr/
|
Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris
|
APC
adenomatosis polyposis coli
175100
|
Familial Adenomatous Polyposis at GeneDis
http://bioinfo.tau.ac.il/GeneDis/Tables/APC/Apc.html
|
Cyril Legum, Avi Orr-Urteger, Dept. Human Genetics, Schof Med, Tel-Aviv Univ, Israel Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv University, Israel
|
APC
adenomatosis polyposis coli
175100
|
UMD Locus Specific Databases
http://www.umd.be/
|
Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique,
Montpellier, France
Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris
|
APP
amyloid beta (A4) precursor protein
104760
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
AQP1
aquaporin 1 (Colton blood group)
107776
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A
|
AQP2
aquaporin 2 (collecting duct)
107777
|
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/
|
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
|
AR
androgen receptor
313700
|
Androgen Receptor
http://androgendb.mcgill.ca/
|
Bruce Gottlieb
L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada
|
ARHGEF10
Rho guanine nucleotide exchange factor (GEF) 10
608136
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
ART4
ADP-ribosyltransferase 4 (Dombrock blood group)
110600
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
ATM
ataxia telangiectasia mutated
607585
|
ATbase - a registry of patients with ataxia-telangiectasia
http://www.bionut.ki.se/ATbase/
|
Karolinska Insitutet Stockholm Sweden
|
ATM
ataxia telangiectasia mutated
607585
|
ATM at LOVD
http://www.LOVD.nl/ATM
|
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA
|
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
182340
|
ATP1A2 database at LOVD
http://www.LOVD.nl/ATP1A2
|
Boukje de Vries, LUMC, Leiden, The Netherlands
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
|
Wilson Disease Mutation Database
http://www.medicalgenetics.med.ualberta.ca/wilson/index.php
|
Susan Kenney,
Diane Cox,
Dept Med Gen, Univ Alberta, Canada
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
|
Wilson's Disease at GeneDis
http://bioinfo.tau.ac.il/GeneDis/Tables/Wilson/Wilson.html
|
Prof. Batsheva Bonne-Tamir
Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Israel
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
|
UMD Locus Specific Databases
http://www.umd.be/
|
Irene Ceballos,
Paris, France
|
AVP
arginine vasopressin
192340
|
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/
|
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
|
AVPR2
arginine vasopressin receptor 2
300538
|
Nephrogenic Diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/
|
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
|
|
Go Back To Main Index!
|
B3GALTL
beta 1,3-galactosyltransferase-like
610308
|
B3GALTL - Peters' Plus syndrome at LOVD
http://www.LOVD.nl/B3GALTL
|
Janneke Weiss, LUMC, Leiden, Nederland
|
B4GALT1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
137060
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
BBS1
Bardet-Biedl syndrome 1
209901
|
Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)
http://www.retina-international.org/sci-news/bbs1mut.htm
|
Retina International
|
BBS2
Bardet-Biedl syndrome 2
606151
|
Mutations of the Bardet-Biedl Syndrome Type 2 Gene
http://www.retina-international.org/sci-news/bbs2mut.htm
|
Retina International
|
BBS4
Bardet-Biedl syndrome 4
600374
|
Mutations of the Bardet-Biedl Syndrome Type 4 Gene
http://www.retina-international.org/sci-news/bbs4mut.htm
|
Retina International
|
BBS7
Bardet-Biedl syndrome 7
607590
|
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)
http://www.retina-international.org/sci-news/bbs7mut.htm
|
Retina International
|
BCAM
basal cell adhesion molecule (Lutheran blood group)
111200
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
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
http://bioweb.ensam.inra.fr/ESTHER/general?what=index
|
Xavier Cousin,
Institut National de la Recherche, Agronomique,
Montpellier, France
|
BEST1
bestrophin 1
607854
|
Vitelliform macular dystrophy mutation database (VMD2)
http://www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2
|
Jürgen Kaschkötö, Inst. of Human Genetics, University of Regensburg, Germany
|
BEST1
bestrophin 1
607854
|
VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg
http://www-huge.uni-regensburg.de/VMD2_database/
|
Jürgen Kaschkötö, Institute of Human Genetics, University of Regensburg, Germany
|
BEST1
bestrophin 1
607854
|
Mutations of the Bestrophin Gene
http://www.retina-international.org/sci-news/vmd2mut.htm
|
Retina International
|
BFSP2
beaded filament structural protein 2, phakinin
603212
|
Human Intermediate Filament Mutation Database
http://www.interfil.org/
|
W.H.I. McLean, Andrew Cassidy, Epithelial Genetics Group,
Univ. Department of Human Genetics, Ninewells Hospital in Dundee, UK
|
BLM
Bloom syndrome
604610
|
BLMbase: Mutation registry for Bloom Syndrome
http://bioinf.uta.fi/BLMbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Finland
|
BLNK
B-cell linker
604515
|
BLNKbase: Mutation registry for BLNK deficiency
http://bioinf.uta.fi/BLNKbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
BRCA1
breast cancer 1, early onset
113705
|
Breast Cancer
http://research.nhgri.nih.gov/bic/
|
Lawrence C. Brody & Breast Cancer Information Core
NCHGR/NIH Bethesda, U.S.A.
|
BRCA2
breast cancer 2, early onset
600185
|
Breast Cancer
http://research.nhgri.nih.gov/bic/
|
Lawrence C. Brody & Breast Cancer Information Core
NCHGR/NIH Bethesda, U.S.A.
|
BRCA2
breast cancer 2, early onset
600185
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen Auerbach, Rockefeller University, New York, USA
|
BRIP1
BRCA1 interacting protein C-terminal helicase 1
605882
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
BSCL2
Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
606158
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
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
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
BTK
Bruton agammaglobulinemia tyrosine kinase
300300
|
BTK base: Mutation registry for X-linked agammaglobulinemia
http://bioinf.uta.fi/BTKbase/
|
Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland
|
|
Go Back To Main Index!
|
C1QA
complement component 1, q subcomponent, A chain
120550
|
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Finland
|
C1QB
complement component 1, q subcomponent, B chain
120570
|
C1QBbase: Mutation registry for C1qB deficiency
http://bioinf.uta.fi/C1QBbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C1QC
complement component 1, q subcomponent, C chain
120575
|
C1QGbase: Mutation registry for C1qG deficiency
http://bioinf.uta.fi/C1QGbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C1S
complement component 1, s subcomponent
120580
|
C1Sbase: Mutation registry for C1s deficiency
http://bioinf.uta.fi/C1Sbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C2
complement component 2
217000
|
C2base: Mutation registry for C2 deficiency
http://bioinf.uta.fi/C2base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C3
complement component 3
120700
|
C3base: Mutation registry for C3 deficiency
http://bioinf.uta.fi/C3base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C5
complement component 5
120900
|
C5base: Mutation registry for C5 deficiency
http://bioinf.uta.fi/C5base/index2.html
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C6
complement component 6
217050
|
C6base: Mutation registry for C6 deficiency
http://bioinf.uta.fi/C6base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C7
complement component 7
217070
|
C7base: Mutation registry for C7 deficiency
http://bioinf.uta.fi/C7base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C8B
complement component 8, beta polypeptide
120960
|
C8Bbase: Mutation registry for C8B deficiency
http://bioinf.uta.fi/C8Bbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C9
complement component 9
120940
|
C9base: Mutation registry for C9 deficiency
http://bioinf.uta.fi/C9base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CA2
carbonic anhydrase II
259730
|
CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis
http://bioinf.uta.fi/CA2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
601011
|
CAC1A1A database at LOVD
http://www.LOVD.nl/CACNA1A
|
Elles Boon and Boukje de Vries, LUMC, Leiden, Nederland
|
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
114205
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
CACNA1F
calcium channel, voltage-dependent, alpha 1F subunit
300110
|
Mutations of the L-type Calcium-Channel Gene
http://www.retina-international.org/sci-news/cacnamut.htm
|
Retina International
|
CACNA1S
calcium channel, voltage-dependent, L type, alpha 1S subunit
114208
|
CACNA1S at LOVD
http://www.LOVD.nl/CACNA1S
|
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, Netherlands
|
CAPN3
calpain 3, (p94)
114240
|
Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A
http://www.DMD.nl/CAPN3
|
Johan T. den Dunnen
Leiden Univ.
Med Centre,Leiden,
The Netherlands
|
CASP10
caspase 10, apoptosis-related cysteine peptidase
601762
|
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
http://bioinf.uta.fi/CASP10base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CASP8
caspase 8, apoptosis-related cysteine peptidase
601763
|
CASP8base: Mutation registry for Caspase 8 deficiency
http://bioinf.uta.fi/CASP8base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CASR
calcium-sensing receptor
601199
|
CASRdb Calcium Sensing Receptor Locus Mutation Database
http://www.casrdb.mcgill.ca
|
Svetlana Pidasheva, Geoff Hendy, Manyphong Phommarinh, L.D'Souza-Li, McGill University Healt Centre
Montreal, Canada
|
CAV3
caveolin 3
601253
|
Limb-Girdle Muscular Dystrophy type 1C
http://www.DMD.nl/CAV3
|
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
|
CBS
cystathionine-beta-synthase
236200
|
Cystathionine beta-synthase database
http://www.uchsc.edu/cbs/
|
Jan P. Kraus
Univ. of Colorado
Denver, U.S.A.
|
CD19
CD19 molecule
107265
|
CD19base: Mutation registry for CD19 deficiency
http://bioinf.uta.fi/CD19base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD247
CD247 molecule
186780
|
CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency
http://bioinf.uta.fi/CD247base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD3D
CD3d molecule, delta (CD3-TCR complex)
186790
|
CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
http://bioinf.uta.fi/CD3Dbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD3E
CD3e molecule, epsilon (CD3-TCR complex)
186830
|
CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
http://bioinf.uta.fi/CD3Ebase/
|
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
|
CD3G
CD3g molecule, gamma (CD3-TCR complex)
186740
|
CD3Gbase: Mutation registry for autosomal recessiveCD3gamma immunodeficiency
http://bioinf.uta.fi/CD3Gbase/
|
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
|
CD40
CD40 antigen, TNF receptor superfamily member 5
109535
|
CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)
http://bioinf.uta.fi/CD40base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD40LG
CD40 ligand
300386
|
CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome
http://bioinf.uta.fi/CD40Lbase/
|
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD40LG
CD40 ligand
300386
|
Immunodeficiency with Increased IgM-The European CD40 Defect Database
http://www.expasy.ch/cd40lbase/cd40lbasestruct.html
|
European Society for Immuno deficiencies
|
CD55
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
125240
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
CD55
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
125240
|
CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase)
http://bioinf.uta.fi/CD55base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD59
CD59 molecule, complement regulatory protein
107271
|
CD59base: Mutation registry for CD59 deficiency
http://bioinf.uta.fi/CD59base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD79A
CD79a molecule, immunoglobulin-associated alpha
112205
|
CD79Abase: Mutation registry for Igα deficiency
http://bioinf.uta.fi/CD79Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD8A
CD8a molecule
186910
|
CD8Abase: Mutation registry for CD8 deficiency
http://bioinf.uta.fi/CD8Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CDH23
cadherin-like 23
605516
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp
Univ. of Antwerp
Antwerp, Belgium
Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
CDH23
cadherin-like 23
605516
|
Mutations of the Cadherin-related Protein 23 Gene
http://www.retina-international.org/sci-news/cdh23mut.htm
|
Retina International
|
CDH3
cadherin 3, type 1, P-cadherin (placental)
114021
|
Mutations of the P-Cadherin Gene
http://www.retina-international.org/sci-news/cdh3mut.htm
|
Retina International
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
600160
|
CDKN2a Database Project (a human p16 database with annotation)
http://biodesktop.uvm.edu/perl/p16
|
Marc Greenblatt
Univ. of Vermont,
Burlington VT, USA
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
600160
|
CDKN2A database at LOVD
http://www.LOVD.nl/CDKN2A
|
Janneke Weiss, LUMC, Leiden, The Netherlands
|
CEBPE
CCAAT/enhancer binding protein (C/EBP), epsilon
600749
|
CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
http://bioinf.uta.fi/CEBPEbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFD
Complement Factor D (adipsin)
134350
|
CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase)
http://bioinf.uta.fi/CFDbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFH
complement factor H
134370
|
CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
http://bioinf.uta.fi/CFHbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFI
complement factor I
217030
|
CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
http://bioinf.uta.fi/CFIbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFP
complement factor properdin
300383
|
PFCbase: Mutation registry for properdin deficiency
http://bioinf.uta.fi/PFCbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFTR
cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
602421
|
Cystic Fibrosis
http://www.genet.sickkids.on.ca/cftr/
|
Lap Chee Tsui
The Hospital for Sick Children,
Toronto, Canada
|
CHM
choroideremia (Rab escort protein 1)
300390
|
Mutations of the Rab Escort Protein 1
http://www.retina-international.org/sci-news/repmut.htm
|
Retina International
|
CIITA
class II, major histocompatibility complex, transactivator
600005
|
CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)
http://bioinf.uta.fi/CIITAbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CILD2
ciliary dyskinesia, primary 2
606763
|
Premature Centromere Division-BIOMED database
http://www.bh4.org/
|
N. Blau,
Univ.Children's Hospital,
Zurich,
J.L. Dhont,
Faculté libre de Médicine,
Lille, France,
I.Dianzani, Univ.Torino, Torino, Italy
|
CLCN1
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
118425
|
CLCN1 - Chloride channel 1, skeletal muscle
http://www.LOVD.nl/CLCN1
|
Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden
|
CLCN7
chloride channel 7
602727
|
CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2
http://bioinf.uta.fi/CLCN7base/
|
Mauno Vihinen,
Univ. of Tampere,
Tampere, Finland
|
CLDN14
claudin 14
605608
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp
Univ. of Antwerp
Antwerp, Belgium
Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
CLN3
ceroid-lipofuscinosis, neuronal 3
607042
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN3
ceroid-lipofuscinosis, neuronal 3
607042
|
Mutations of the CLN3 Gene
http://www.retina-international.org/sci-news/cln3mut.htm
|
Retina International
|
CLN4
ceroid-lipofuscinosis, neuronal 4 (Kufs disease)
204300
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN5
ceroid-lipofuscinosis, neuronal 5
608102
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN6
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
606725
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN8
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
607837
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLRN1
clarin 1 (Formerly USH3A - Usher syndrome 3A)
606397
|
Mutations of the Usher Syndrome Type 3 Gene (USH3)
http://www.retina-international.org/sci-news/ush3mut.htm
|
Retina International
|
CNGA1
cyclic nucleotide gated channel alpha 1
123825
|
Mutations of the Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga1mut.htm
|
Retina International
|
CNGA3
cyclic nucleotide gated channel alpha 3
600053
|
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga3mut.htm
|
Retina International
|
COCH
coagulation factor C homolog, cochlin (Limulus polyphemus)
603196
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
COL11A2
collagen, type XI, alpha 2
120290
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
COL1A1
collagen, type I, alpha 1
120150
|
Collagen Type I & III
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Department of Genetics, University of Leicester, UK
|
COL1A2
collagen, type I, alpha 2
120160
|
Collagen Type I & III
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Department of Genetics, University of Leicester, UK
|
COL3A1
collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
120180
|
Collagen Type I & III
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Department of Genetics, University of Leicester, UK
|
COL6A1
collagen, type VI, alpha 1
120220
|
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/COL6A1
|
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
|
COL6A2
collagen, type VI, alpha 2
120240
|
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/COL6A2
|
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
|
COL6A3
collagen, type VI, alpha 3
120250
|
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/COL6A3
|
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
|
COLQ
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
603033
|
ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes & Relatives
http://bioweb.ensam.inra.fr/esther
|
Xavier Cousin,
Institut National de la Recherche, Agronomique,
Montpellier, France
|
CR1
complement component (3b/4b) receptor 1 (Knops blood group)
120620
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
CRB1
crumbs homolog 1 (Drosophila)
604210
|
Mutations of the Human Crumbs Homologue 1
http://www.retina-international.org/sci-news/crb1mut.htm
|
Retina International
|
CREBBP
CREB binding protein (Rubinstein-Taybi syndrome)
600140
|
CREBBP - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/CREBBP
|
Dorien Peters, Clinical Genetics, LUMC, Leiden
|
CRTAP
cartilage associated protein
605497
|
Osteogenesis Imperfecta Mutation Database
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Department of Genetics, University of Leicester, UK
|
CRX
cone-rod homeobox
602225
|
Mutations of the Cone Rod Homeobox Gene
http://www.retina-international.org/sci-news/crxmut.htm
|
Retina International
|
CRYAA
crystallin, alpha A
123580
|
CRYAA database at LOVD
http://www.LOVD.nl/CRYAA
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYAB
crystallin, alpha B
123590
|
CRYAB database at LOVD
http://www.LOVD.nl/CRYAB
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBA1
crystallin, beta A1
123610
|
CRYBA1 database at LOVD
http://www.LOVD.nl/CRYBA1
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBA4
crystallin, beta A4
123631
|
CRYBA4 database at LOVD
http://www.LOVD.nl/CRYBA4
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB1
crystallin, beta B1
600929
|
CRYBB1 database at LOVD
http://www.LOVD.nl/CRYBB1
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB2
crystallin, beta B2
123620
|
CRYBB2 database at LOVD
http://www.LOVD.nl/CRYBB2
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB3
crystallin, beta B3
123630
|
CRYBB3 database at LOVD
http://www.LOVD.nl/CRYBB3
|
Lars Hansen Institute of Cellular and Molecular Medicine |
