HGVS LSDBs Listing

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:

Specify the Gene Symbol:

HGNC GENE SYMBOL OMIM NO.	DATABASE NAME INTERNET ADDRESS	CURATORS
« Go Top! » *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
« Go Top! » *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
« Go Top! » *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
« Go Top! » *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)

Locus Specific Mutation Databases

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.