Locus Specific Mutation Databases

Last Updated 13 March 2007

IMPORTANT NOTE: 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.

If your gene is not in these lists, you may like to check the "Disease Centred", "Mitochondrial Mutations" or "Other mutation Databases" database links as it may be in one of those.

If you wish to add a gene please contact Rania.

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 Gene Symbol:
HGNC GENE SYMBOL
OMIM NO.
DATABASE NAME
INTERNET ADDRESS
CURATORS
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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/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  
ACHE
acetylcholinesterase (YT blood group)
100740
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  
ACTC
actin, alpha, cardiac muscle
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  
ACTC
actin, alpha, cardiac muscle
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://www.macs.hw.ac.uk/hht/  
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 (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
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/  
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, memberA1
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 (peptidase nexin-II, Alzheimer disease)
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 (channel-forming integral protein, 28kDa)
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 (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
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  
ARVD2
arrhythmogenic right ventricular dysplasia 2
600996
Gene Connection for the Heart
http://www.fsm.it/cardmoc/  
P. Brugada Alalst, BelgiumJ. Brugada Banyoles, SpainR. Brugada Houston, Texas, U.S.A.A.A.M. Wilde Amsterdam The Netherlands  
ATM
ataxia telangiectasia mutated (includes complementation groups A, C and D)
607585
ATbase - a registry of patients with ataxia-telangiectasia
http://www.bionut.ki.se/ATbase/  
Karolinska Insitutet Stockholm Sweden  
ATM
ataxia telangiectasia mutated (includes complementation groups A, C and D)
607585
Ataxia-Telangiectasia
http://benaroyaresearch.org/investigators/concannon_patrick/atm.htm  
Patrick Concannon University of Virginia,Seattle, Washington; Richard A. Gatti,Dept. of Pathology UCLA, U.S.A.  
ATM
ataxia telangiectasia mutated (includes complementation groups A, C and D)
607585
ATM under construction at LOVD
http://www.LOVD.nl/ATM  
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA  
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 (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)
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 (nephrogenic diabetes insipidus)
300538
Nephrogenic Diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/  
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada  
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B3GALTL
beta 1,3-galactosyltransferase-like
610308
B3GALTL - Peters' Plus syndrome
http://www.LOVD.nl/B3GALTL  
Saskia Lesnik Oberstein, 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  
BCHE
butyrylcholinesterase
177400
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
http://bioweb.ensam.inra.fr/esther  
Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France  
BEST1
bestrophin 1
607854
VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg
http://www-huge.uni-regensburg.de/VMD2_database/  
Heidi Schulz, Biozentrum, Univ. of Wuertzburg, Germany  
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/index2.html  
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
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
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.  
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/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  
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  
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C1QA
complement component 1, q subcomponent, A chain
120550
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index2.html  
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  
C1QG
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/index2.html  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C2
complement component 2
217000
C2base: Mutation registry for C2 deficiency
http://bioinf.uta.fi/C2base/index2.html  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C3
complement component 3
120700
C3base: Mutation registry for C3 deficiency
http://bioinf.uta.fi/C3base/index2.html  
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/index2.html  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C7
complement component 7
217070
C7base: Mutation registry for C7 deficiency
http://bioinf.uta.fi/C7base/index2.html  
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/index2.html  
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  
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  
CAPN3
calpain 3, (p94)
114240
Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A
http://www.LOVD.nl/CAPN3  
Johan T. den Dunnen Leiden Univ. Med Centre,Leiden, The Netherlands  
CARD15
caspase recruitment domain family, member 15
605956
Crohn's Disease & Blau Syndrome; INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/  
Suzane Lesage, INSERM 289, Paris, France  
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 (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
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.LOVD.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/index2.html  
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/index2.html  
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/  
Luigi D. Notarangelo, Alessandro Plebani, Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
CD40LG
CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)
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 (TNF superfamily, member 5, hyper-IgM syndrome)
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/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  
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  
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/DFbase/  
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  
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://webhost.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, juvenile (Batten, Spielmeyer-Vogt disease)
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, juvenile (Batten, Spielmeyer-Vogt disease)
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  
CLN7
ceroid-lipofuscinosis, neuronal 7, late infantile, variant
600143
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  
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://webhost.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://webhost.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 & Collaborative Group,Leicester, U.K.  
COL1A2
collagen, type I, alpha 2
120160
Collagen Type I & III
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish & Collaborative Group,Leicester, U.K.  
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 & Collaborative Group,Leicester, U.K.  
COL6A1
collagen, type VI, alpha 1
120220
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A1  
Anne Lampe, University Newcastle upon Tyne, UK  
COL6A2
collagen, type VI, alpha 2
120240
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A2  
Anne Lampe, University Newcastle upon Tyne, UK  
COL6A3
collagen, type VI, alpha 3
120250
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A3  
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, including Knops blood group system
120620
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  
CRB1
crumbs homolog 1 (Drosophila)
604210
Mutations of the Human Crumbs Homologue 1
http://www.retina-international.org/sci-news/crb1mut.htm  
Retina International  
CRX
cone-rod homeobox
602225
Mutations of the Cone Rod Homeobox Gene
http://www.retina-international.org/sci-news/crxmut.htm  
Retina International  
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 (chronic granulomatous disease)
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, 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, 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 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 Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP21A2
cytochrome P450, family 21, subfamily A, polypeptide 2
201910
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2A13
cytochrome P450, family 2, subfamily A, polypeptide 13
608055
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP2A6
cytochrome P450, family 2, subfamily A, polypeptide 6
122720
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2B6
cytochrome P450, family 2, subfamily B, polypeptide 6
123930
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2C19
cytochrome P450, family 2, subfamily C, polypeptide 19
124020
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2C8
cytochrome P450, family 2, subfamily C, polypeptide 8
601129
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2C9
cytochrome P450, family 2, subfamily C, polypeptide 9
601130
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2D6
cytochrome P450, family 2, subfamily D, polypeptide 6
124030
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2E1
cytochrome P450, family 2, subfamily E, polypeptide 1
124040
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2J2
cytochrome P450, family 2, subfamily J, polypeptide 2
601258
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP2R1
cytochrome P450, family 2, subfamily R, polypeptide 1
608713
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP2S1
cytochrome P450, family 2, subfamily S, polypeptide 1
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP3A4
cytochrome P450, family 3, subfamily A, polypeptide 4
124010
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP3A43
cytochrome P450, family 3, subfamily A, polypeptide 43
606534
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP3A5
cytochrome P450, family 3, subfamily A, polypeptide 5
605325
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP3A7
cytochrome P450, family 3, subfamily A, polypeptide 7
605340
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
CYP4A11
cytochrome P450, family 4, subfamily A, polypeptide 11
601310
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP4A22
cytochrome P450, family 4, subfamily A, polypeptide 22
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Karolinska Institutet, Stockholm, Sweden  
CYP4B1
cytochrome P450, family 4, subfamily B, polypeptide 1
124075
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/  
Magnus Ingelman-Sundberg Ann K. Daly Daniel W. Nebert Karolinska Institutet Stockholm Sweden  
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DCLRE1C
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
605988
DCLRE1Cbase: Mutation registry for Artemis deficiency
http://bioinf.uta.fi/DCLRE1Cbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
DCTN1
dynactin 1 (p150, glued homolog, Drosophila)
601143
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  
DFNA5
deafness, autosomal dominant 5
600994
Hereditary Hearing Loss Homepage
http://webhost.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  
DIAPH1
diaphanous homolog 1 (Drosophila)
602121
Hereditary Hearing Loss Homepage
http://webhost.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  
DKC1
dyskeratosis congenita 1, dyskerin
300126
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
http://bioinf.uta.fi/DKC1base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
DMD
dystrophin (muscular dystrophy, Duchenne and Becker types)
300377
Leiden Muscular Dystrophy Pages
http://www.dmd.nl  
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands  
DNM2
dynamin 2
602378
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  
DNMT3B
DNA (cytosine-5-)-methyltransferase 3 beta
602900
DNMT3Bbase: Mutation registry for ICF syndrome
http://bioinf.uta.fi/DNMT3Bbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
DO
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  
DPAGT1
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)