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Locus Specific Mutation Databases |
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Genes are in order of HUGO
APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found
under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG"
and so on.
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| Please select the first letter of the Gene: | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | ||
| OR | ||||||||||||||||||||||||||||
| Specify the HGNC Gene Symbol: | ||||||||||||||||||||||||||||
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
|
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. |
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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 |
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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 |
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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 |
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 |
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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 |
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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 |
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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL1A2
collagen, type I, alpha 2 120160 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL3A1
collagen, type III, alpha 1 120180 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
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 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
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, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGC
crystallin, gamma C 123680 |
CRYGC database at LOVD
http://www.LOVD.nl/CRYGC |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGD
crystallin, gamma D 123690 |
CRYGD database at LOVD
http://www.LOVD.nl/CRYGD |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGS
crystallin, gamma S 123730 |
CRYGS database at LOVD
http://www.LOVD.nl/CRYGS |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CTDP1
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 604927 |
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 |
|
CTSC
cathepsin C 602365 |
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
http://bioinf.uta.fi/CTSCbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CXCR4
chemokine (C-X-C motif) receptor 4 162643 |
CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)
http://bioinf.uta.fi/CXCR4base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYBA
cytochrome b-245, alpha polypeptide 608508 |
CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox
http://bioinf.uta.fi/CYBAbase/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYBB
cytochrome b-245, beta polypeptide 300481 |
CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)
http://bioinf.uta.fi/CYBBbase/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYP19A1
cytochrome P450, family 19, subfamily A, polypeptide 1 107910 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1A1
cytochrome P450, family 1, subfamily A, polypeptide 1 108330 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1A2
cytochrome P450, family 1, subfamily A, polypeptide 2 124060 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1B1
cytochrome P450, family 1, subfamily B, polypeptide 1 601771 |
Human Cytochrome P450 (CYP)Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingeman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP21A2
cytochrome P450, family 21, subfamily A, polypeptide 2 201910 |
Huma | |