visit counter for blogspot
HGVS LSDBs Listing

Locus Specific Mutation Databases

Last Update 25 Nov 2009

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 you wish to find an Approved gene symbol please select HGNC Search.

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 an LSDB please go to the LSDB Submission Page   Please note that some LSDBs have a Curator vacancy - if you would like to serve please contact the acting curator via that database.

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:
HGNC GENE SYMBOL
OMIM NO.
DATABASE NAME
INTERNET ADDRESS
CURATORS
Go Back To Main Index!
ABCA13
ATP-binding cassette, sub-family A (ABC1), member 13
607807
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/ABCA13  
Johan T. den Dunnen and Ben Pickard  
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  
ABCB7
ATP-binding cassette, sub-family B (MDR/TAP), member 7
300135
ABCB7 database at LOVD
http://www.LOVD.nl/ABCB7  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
603234
LOVD at NCBI
http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6  
Sharon Terry and Tim Hefferon  
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-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
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  
ACE2
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
300335
ACE2 database at LOVD
http://www.LOVD.nl/ACE2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
ACOT9
acyl-CoA thioesterase 9
ACOT9 database at LOVD
http://www.LOVD.nl/ACOT9  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ACSL4
acyl-CoA synthetase long-chain family member 4
300157
ACSL4 database at LOVD
http://www.LOVD.nl/ACSL4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ACTA1
actin, alpha 1, skeletal muscle
102610
Laing Laboratory Skeletal muscle alpha-actin (ACTA1)
http://acta1.waimr.uwa.edu.au/home.php?select_db=ACTA1  
Nigel Laing and Kristen Nowak  
ACTA1
actin, alpha 1, skeletal muscle
102610
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ACTA1  
Kristen Nowak and Nigel Laing  
ACTC1
actin, alpha, cardiac muscle 1
102540
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html  
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia  
ACTC1
actin, alpha, cardiac muscle 1
102540
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/%7Eseidman/cg3/genes/ACTC_info.html  
NHLBI Program for Genomic Applications, Harvard Medical School.  
ACTRT1
actin-related protein T1
300487
ACTRT1 database at LOVD
http://www.LOVD.nl/ACTRT1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
AFF2
AF4/FMR2 family, member 2
309548
AFF2 database at LOVD
http://www.LOVD.nl/AFF2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AGTR2
angiotensin II receptor, type 2
300034
AGTR2 database at LOVD
http://www.LOVD.nl/AGTR2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
AIFM1
apoptosis-inducing factor, mitochondrion-associated, 1
300169
AIFM1 database at LOVD
http://www.LOVD.nl/AIFM1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
AKAP14
A kinase (PRKA) anchor protein 14
300462
AKAP14 database at LOVD
http://www.LOVD.nl/AKAP14  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AKAP4
A kinase (PRKA) anchor protein 4
300185
AKAP4 database at LOVD
http://www.LOVD.nl/AKAP4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9
604001
Zhejiang University-Adinovo Center AHAP9 Database
http://www.china-hvp.org/LOVD/?select_db=AKAP9  
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang  
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.  
ALDH5A1
aldehyde dehydrogenase 5 family, member A1
610045
Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database
http://www.lovd.nl/ALDH5A1  
Gajja Salomons  
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, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
605907
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs Center for Human Genetics Leuven, Belgium  
ALG12
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
607144
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALG13
asparagine-linked glycosylation 13 homolog (S. cerevisiae)
300776
ALG13 database at LOVD
http://www.LOVD.nl/ALG13  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ALG2
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)
607905
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALG3
asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)
608750
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALG6
asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
604566
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALG8
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
608103
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALG9
asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)
606941
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
ALOX5AP
arachidonate 5-lipoxygenase-activating protein
603700
arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database
http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP  
Belinda Giardine and Joseph Borg  
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  
AMELX
amelogenin (amelogenesis imperfecta 1, X-linked)
300391
AMELX database at LOVD
http://www.LOVD.nl/AMELX  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AMMECR1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
300195
AMMECR1 database at LOVD
http://www.LOVD.nl/AMMECR1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AMOT
angiomotin
300410
AMOT database at LOVD
http://www.LOVD.nl/AMOT  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ANK2
ankyrin 2, neuronal
106410
Gene Connection for the Heart
http://www.fsm.it/cardmoc/  
S.G. Priori, P.J. Schwartz, Pavia, Italy  
AP1S2
adaptor-related protein complex 1, sigma 2 subunit
300629
AP1S2 database at LOVD
http://www.LOVD.nl/AP1S2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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
adenomatous polyposis coli
611731
The UMD APC mutations database
http://www.umd.be/APC/  
Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris  
APC
adenomatous polyposis coli
611731
APC-Database
http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=APC  
Dr. Stefan Aretz and Dr. Waltraut Friedl  
APC
adenomatous polyposis coli
611731
Zhejiang University-Adinovo Center APC Database
http://china-hvp.org/LOVD/?select_db=APC  
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao  
APEX2
APEX nuclease (apurinic/apyrimidinic endonuclease) 2
300773
APEX2 database at LOVD
http://www.LOVD.nl/APEX2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
APLN
apelin
300297
APLN database at LOVD
http://www.LOVD.nl/APLN  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
APOO
apolipoprotein O
300753
APOO database at LOVD
http://www.LOVD.nl/APOO  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
APOOL
apolipoprotein O-like
APOOL database at LOVD
http://www.LOVD.nl/APOOL  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
AQP9
aquaporin 9
602914
Aquaporin 9 (AQP9) database
http://lovd.bx.psu.edu/home.php?select_db=AQP9  
Belinda Giardine and Joseph Borg  
AR
androgen receptor
313700
Androgen Receptor
http://androgendb.mcgill.ca/  
Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada  
ARAF
v-raf murine sarcoma 3611 viral oncogene homolog
311010
ARAF database at LOVD
http://www.LOVD.nl/ARAF  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARG1
arginase, liver
608313
ARG1database at LOVD
http://www.LOVD.nl/ARG1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARG2
arginase, type II
107830
Arginase, type II (ARG2) database
http://lovd.bx.psu.edu/home.php?select_db=ARG2  
Belinda Giardine and Joseph Borg  
ARHGAP4
Rho GTPase activating protein 4
300023
ARHGAP4 database at LOVD
http://www.LOVD.nl/ARHGAP4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARHGAP6
Rho GTPase activating protein 6
300118
ARHGAP6 database at LOVD
http://www.LOVD.nl/ARHGAP6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
300267
ARHGEF6 database at LOVD
http://www.LOVD.nl/ARHGEF6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX1
armadillo repeat containing, X-linked 1
300362
ARMCX1 database at LOVD
http://www.LOVD.nl/ARMCX1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX2
armadillo repeat containing, X-linked 2
300363
ARMCX2 database at LOVD
http://www.LOVD.nl/ARMCX2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX3
armadillo repeat containing, X-linked 3
300364
ARMCX3 database at LOVD
http://www.LOVD.nl/ARMCX3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX4
armadillo repeat containing, X-linked 4
ARMCX4 database at LOVD
http://www.LOVD.nl/ARMCX4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX5
armadillo repeat containing, X-linked 5
ARMCX5 database at LOVD
http://www.LOVD.nl/ARMCX5  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARMCX6
armadillo repeat containing, X-linked 6
ARMCX6 database at LOVD
http://www.LOVD.nl/ARMCX6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARSD
arylsulfatase D
300002
ARSD database at LOVD
http://www.LOVD.nl/ARSD  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARSE
arylsulfatase E (chondrodysplasia punctata 1)
300180
ARSE database at LOVD
http://www.LOVD.nl/ARSE  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ARSF
arylsulfatase F
300003
ARSF database at LOVD
http://www.LOVD.nl/ARSF  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
ASB11
ankyrin repeat and SOCS box-containing 11
300626
ASB11 database at LOVD
http://www.LOVD.nl/ASB11  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASB12
ankyrin repeat and SOCS box-containing 12
ASB12 database at LOVD
http://www.LOVD.nl/ASB12  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASB9
ankyrin repeat and SOCS box-containing 9
ASB9 database at LOVD
http://www.LOVD.nl/ASB9  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASL
argininosuccinate lyase
608310
ASL database at LOVD
http://www.LOVD.nl/ASL  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASMT
acetylserotonin O-methyltransferase
402500
ASMT database at LOVD
http://www.LOVD.nl/ASMT  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASMTL
acetylserotonin O-methyltransferase-like
400011
ASMTL database at LOVD
http://www.LOVD.nl/ASMTL  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASPA
aspartoacylase (Canavan disease)
608034
aspartoacylase (Canavan disease) (ASPA) Variation Database
http://www.LOVD.nl/ASPA  
Gajja Salomons  
ASS1
argininosuccinate synthetase 1
603470
ASS1 database at LOVD
http://www.LOVD.nl/ASS1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ASS1
argininosuccinate synthetase 1
603470
Argininosuccinate synthetase 1 (ASS1) database
http://lovd.bx.psu.edu/home.php?select_db=ASS1  
Belinda Giardine and Joseph Borg  
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  
ATP11C
ATPase, class VI, type 11C
300516
ATP11C database at LOVD
http://www.LOVD.nl/ATP11C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
ATP1B4
ATPase, (Na+)/K+ transporting, beta 4 polypeptide
ATP1B4 database at LOVD
http://www.LOVD.nl/ATP1B4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ATP2B3
ATPase, Ca++ transporting, plasma membrane 3
300014
ATP2B3 database at LOVD
http://www.LOVD.nl/ATP2B3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ATP6AP2
ATPase, H+ transporting, lysosomal accessory protein 2
300556
ATP6AP2 database at LOVD
http://www.LOVD.nl/ATP6AP2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ATP7A
ATPase, Cu++ transporting, alpha polypeptide
300011
ATP7A database at LOVD
http://www.LOVD.nl/ATP7A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
Wilson Disease Mutation Database
http://www.wilsondisease.med.ualberta.ca/database.asp  
Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada  
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
The UMD ATP7B mutations database
http://www.umd.be/ATP7B/  
Irene Ceballos, Paris, France  
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
300032
ATRX database at LOVD
http://www.LOVD.nl/ATRX  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
300032
alpha thalassemia/mental Retardation syndrome X-linked (ATRX) database
http://lovd.bx.psu.edu/home.php?select_db=ATRX  
Belinda Giardine and Joseph Borg  
ATXN3L
ataxin 3-like
ATXN3L database at LOVD
http://www.LOVD.nl/ATXN3L  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
AWAT1
acyl-CoA wax alcohol acyltransferase 1
AWAT1 database at LOVD
http://www.LOVD.nl/AWAT1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
AWAT2
acyl-CoA wax alcohol acyltransferase 2
AWAT2 database at LOVD
http://www.LOVD.nl/AWAT2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
Go Back To Main Index!
B3GALTL
beta 1,3-galactosyltransferase-like
610308
B3GALTL - Peters' Plus syndrome at LOVD
http://www.LOVD.nl/B3GALTL  
Janneke Weiss, LUMC, Leiden, Nederland  
B4GALT1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
137060
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
BBS1
Bardet-Biedl syndrome 1
209901
Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)
http://www.retina-international.org/sci-news/bbs1mut.htm  
Retina International  
BBS2
Bardet-Biedl syndrome 2
606151
Mutations of the Bardet-Biedl Syndrome Type 2 Gene
http://www.retina-international.org/sci-news/bbs2mut.htm  
Retina International  
BBS4
Bardet-Biedl syndrome 4
600374
Mutations of the Bardet-Biedl Syndrome Type 4 Gene
http://www.retina-international.org/sci-news/bbs4mut.htm  
Retina International  
BBS7
Bardet-Biedl syndrome 7
607590
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)
http://www.retina-international.org/sci-news/bbs7mut.htm  
Retina International  
BCAM
basal cell adhesion molecule (Lutheran blood group)
111200
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home  
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A  
BCHE
butyrylcholinesterase
177400
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
http://bioweb.ensam.inra.fr/ESTHER/general?what=index  
Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France  
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
606557
B-cell CLL/lymphoma 11A (BCL11A) database
http://lovd.bx.psu.edu/home.php?select_db=BCL11A  
Belinda Giardine and Joseph Borg  
BCOR
BCL6 co-repressor
300485
BCOR database at LOVD
http://www.LOVD.nl/BCOR  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BCORL1
BCL6 co-repressor-like 1
300688
BCORL1 database at LOVD
http://www.LOVD.nl/BCORL1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BEND2
BEN domain containing 2
BEND2 database at LOVD
http://www.LOVD.nl/BEND2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BEST1
bestrophin 1
607854
Vitelliform macular dystrophy mutation database (VMD2)
http://www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2  
Heidi L. Schulz, Inst. 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  
BEX2
brain expressed X-linked 2
300691
BEX2 database at LOVD
http://www.LOVD.nl/BEX2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
BGN
biglycan
301870
BGN database at LOVD
http://www.LOVD.nl/BGN  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BHLHB9
basic helix-loop-helix domain containing, class B, 9
BHLHB9 database at LOVD
http://www.LOVD.nl/BHLHB9  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BLM
Bloom syndrome, RecQ helicase-like
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  
BMP15
bone morphogenetic protein 15
300247
BMP15 database at LOVD
http://www.LOVD.nl/BMP15  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BMP2KL
BMP2 inducible kinase-like
BMP2KL database at LOVD
http://www.LOVD.nl/BMP2KL  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BMX
BMX non-receptor tyrosine kinase
300101
BMX database at LOVD
http://www.LOVD.nl/BMX  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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.  
BRCA1
breast cancer 1, early onset
113705
The UMD BRCA1 mutations database
http://www.umd.be/BRCA1/  
R. Lidereau  
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  
BRWD3
bromodomain and WD repeat domain containing 3
300553
BRWD3 database at LOVD
http://www.LOVD.nl/BRWD3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
BSCL2
Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
606158
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/  
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium  
BSG
basigin (Ok blood group)
109480
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home  
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A  
BTK
Bruton agammaglobulinemia tyrosine kinase
300300
BTK base: Mutation registry for X-linked agammaglobulinemia
http://bioinf.uta.fi/BTKbase/  
Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland  
Go Back To Main Index!
C1GALT1C1
C1GALT1-specific chaperone 1
300611
C1GALT1C1 database at LOVD
http://www.LOVD.nl/C1GALT1C1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
C1QA
complement component 1, q subcomponent, A chain
120550
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index.php  
Mauno Vihinen, Univ. of Tampere, Finland  
C1QB
complement component 1, q subcomponent, B chain
120570
C1QBbase: Mutation registry for C1qB deficiency
http://bioinf.uta.fi/C1QBbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C1QC
complement component 1, q subcomponent, C chain
120575
C1QGbase: Mutation registry for C1qG deficiency
http://bioinf.uta.fi/C1QGbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C1S
complement component 1, s subcomponent
120580
C1Sbase: Mutation registry for C1s deficiency
http://bioinf.uta.fi/C1Sbase/index.php  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C2
complement component 2
217000
C2base: Mutation registry for C2 deficiency
http://bioinf.uta.fi/C2base/index.php  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C3
complement component 3
120700
C3base: Mutation registry for C3 deficiency
http://bioinf.uta.fi/C3base/index.php  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C5
complement component 5
120900
C5base: Mutation registry for C5 deficiency
http://bioinf.uta.fi/C5base/index2.html  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C6
complement component 6
217050
C6base: Mutation registry for C6 deficiency
http://bioinf.uta.fi/C6base/index.php  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C7
complement component 7
217070
C7base: Mutation registry for C7 deficiency
http://bioinf.uta.fi/C7base/index.php  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C8B
complement component 8, beta polypeptide
120960
C8Bbase: Mutation registry for C8B deficiency
http://bioinf.uta.fi/C8Bbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
C9
complement component 9
120940
C9base: Mutation registry for C9 deficiency
http://bioinf.uta.fi/C9base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
CA2
carbonic anhydrase II
611492
CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis
http://bioinf.uta.fi/CA2base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
CA5B
carbonic anhydrase VB, mitochondrial
300230
CA5B database at LOVD
http://www.LOVD.nl/CA5B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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, L type, 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  
CAPN6
calpain 6
300146
CAPN6 database at LOVD
http://www.LOVD.nl/CAPN6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
300172
CASK database at LOVD
http://www.LOVD.nl/CASK  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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.  
CCDC120
coiled-coil domain containing 120
CCDC120 database at LOVD
http://www.LOVD.nl/CCDC120  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CCDC22
coiled-coil domain containing 22
CCDC22 database at LOVD
http://www.LOVD.nl/CCDC22  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CCNB3
cyclin B3
300456
CCNB3 database at LOVD
http://www.LOVD.nl/CCNB3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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 recessive CD3gamma 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  
CD99
CD99 molecule
450000
CD99 database at LOVD
http://www.LOVD.nl/CD99  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CD99L2
CD99 molecule-like 2
CD99L2 database at LOVD
http://www.LOVD.nl/CD99L2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CDH23
cadherin-like 23
605516
The UMD CDH23 mutations database
http://www.umd.be/CDH23/  
A.-F. Roux and D. Baux  
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  
CDKL5
cyclin-dependent kinase-like 5
300203
CDKL5 database at LOVD
http://www.LOVD.nl/CDKL5  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CDR1
cerebellar degeneration-related protein 1, 34kDa
302650
CDR1 database at LOVD
http://www.LOVD.nl/CDR1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CENPI
centromere protein I
300065
CENPI database at LOVD
http://www.LOVD.nl/CENPI  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CFL2
Cofilin 2
601443
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/CFL2  
Johan T. den Dunnen Leiden Univ. Med Centre  
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  
CHRDL1
chordin-like 1
300350
CHRDL1 database at LOVD
http://www.LOVD.nl/CHRDL1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CHRNG
cholinergic receptor, nicotinic, gamma
100730
Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database
http://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=CHRNG  
Dr Julie Vogt and Dr Derek Lim  
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  
CITED1
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
300149
CITED1 database at LOVD
http://www.LOVD.nl/CITED1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CLCN1
chloride channel 1, skeletal muscle
118425
CLCN1 - Chloride channel 1, skeletal muscle
http://www.LOVD.nl/CLCN1  
Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden  
CLCN4
chloride channel 4
302910
CLCN4 database at LOVD
http://www.LOVD.nl/CLCN4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CLCN5
chloride channel 5
300008
CLCN5 database at LOVD
http://www.LOVD.nl/CLCN5  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CLDN2
claudin 2
300520
CLDN2 database at LOVD
http://www.LOVD.nl/CLDN2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CLIC2
chloride intracellular channel 2
300138
CLIC2 database at LOVD
http://www.LOVD.nl/CLIC2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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
606397
Mutations of the Usher Syndrome Type 3 Gene (USH3)
http://www.retina-international.org/sci-news/ush3mut.htm  
Retina International  
CLRN1
clarin 1
606397
The UMD USH3A mutations database
http://www.umd.be/USH3A/  
A.-F. Roux and D. Baux  
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  
CNGA2
cyclic nucleotide gated channel alpha 2
300338
CNGA2 database at LOVD
http://www.LOVD.nl/CNGA2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CNKSR2
connector enhancer of kinase suppressor of Ras 2
300724
CNKSR2 database at LOVD
http://www.LOVD.nl/CNKSR2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CNTNAP2
contactin associated protein-like 2
604569
Contactin associated protein-like 2 (CNTNAP2) database
http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2  
Belinda Giardine and Joseph Borg  
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 Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish, Leicester, U.K.  
COL1A2
collagen, type I, alpha 2
120160
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish, Leicester, U.K.  
COL3A1
collagen, type III, alpha 1
120180
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish, Leicester, U.K.  
COL3A1
collagen, type III, alpha 1
120180
The UMD COL3A1 mutations database
http://www.umd.be/COL3A1/  
P. Khau van Kien  
COL4A5
collagen, type IV, alpha 5
303630
ALPORT syndrome and COL4A5 gene Database
http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php  
Genevieve Pont-Kingdon, PhD, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA  
COL4A5
collagen, type IV, alpha 5
303630
Collagen, type IV, alpha 5 (COL4A5) Mental Retardation Database
http://www.LOVD.nl/COL4A5  
Judy Savige  
COL4A6
collagen, type IV, alpha 6
303631
Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database
http://www.LOVD.nl/COL4A6  
Judy Savige  
COL5A1
collagen, type V, alpha 1
120215
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish, Leicester, U.K.  
COL5A2
collagen, type V, alpha 2
120190
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
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 www server: ESTerases and alpha/beta Hydrolase Enzymes & Relatives
http://bioweb.ensam.inra.fr/esther  
Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France  
CPS1
carbamoyl-phosphate synthetase 1, mitochondrial
608307
CPS1 database at LOVD
http://www.LOVD.nl/CPS1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CPXCR1
CPX chromosome region, candidate 1
CPXCR1 database at LOVD
http://www.LOVD.nl/CPXCR1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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
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 Ehlers-Danlos syndrome variants
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  
CSAG1
chondrosarcoma associated gene 1
CSAG1 database at LOVD
http://www.LOVD.nl/CSAG1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CSF2RA
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
425000
CSF2RA database at LOVD
http://www.LOVD.nl/CSF2RA  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CSNK2A1
casein kinase 2, alpha 1 polypeptide
115440
Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database
http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1  
Belinda Giardine and Joseph Borg  
CSTF2
cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa
600368
CSTF2 database at LOVD
http://www.LOVD.nl/CSTF2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CT45A2
cancer/testis antigen family 45, member A2
300793
CT45A2 database at LOVD
http://www.LOVD.nl/CT45A2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CTAG2
cancer/testis antigen 2
300396
CTAG2 database at LOVD
http://www.LOVD.nl/CTAG2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CTPS2
CTP synthase II
300380
CTPS2 database at LOVD
http://www.LOVD.nl/CTPS2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CTSC
cathepsin C
602365
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
http://bioinf.uta.fi/CTSCbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
CUL4B
cullin 4B
300304
CUL4B database at LOVD
http://www.LOVD.nl/CUL4B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
CXorf1
chromosome X open reading frame 1
300565
CXorf1 database at LOVD
http://www.LOVD.nl/CXorf1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf15
chromosome X open reading frame 15
300677
CXorf15 database at LOVD
http://www.LOVD.nl/CXorf15  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf21
chromosome X open reading frame 21
CXorf21 database at LOVD
http://www.LOVD.nl/CXorf21  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf22
chromosome X open reading frame 22
CXorf22 database at LOVD
http://www.LOVD.nl/CXorf22  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf23
chromosome X open reading frame 23
CXorf23 database at LOVD
http://www.LOVD.nl/CXorf23  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf27
chromosome X open reading frame 27
CXorf27 database at LOVD
http://www.LOVD.nl/CXorf27  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf36
chromosome X open reading frame 36
CXorf36 database at LOVD
http://www.LOVD.nl/CXorf36  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf38
chromosome X open reading frame 38
CXorf38 database at LOVD
http://www.LOVD.nl/CXorf38  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf41
chromosome X open reading frame 41
CXorf41 database at LOVD
http://www.LOVD.nl/CXorf41  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf56
chromosome X open reading frame 56
CXorf56 database at LOVD
http://www.LOVD.nl/CXorf56  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf57
chromosome X open reading frame 57
CXorf57 database at LOVD
http://www.LOVD.nl/CXorf57  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf58
chromosome X open reading frame 58
CXorf58 database at LOVD
http://www.LOVD.nl/CXorf58  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf59
chromosome X open reading frame 59
CXorf59 database at LOVD
http://www.LOVD.nl/CXorf59  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
CXorf66
chromosome X open reading frame 66
CXorf66 database at LOVD
http://www.LOVD.nl/CXorf66  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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
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  
CYP26A1
cytochrome P450, family 26, subfamily A, polypeptide 1
602239
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  
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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, Karolinska Institutet, Stockholm, Sweden  
CYP2F1
cytochrome P450, family 2, subfamily F, polypeptide 1
124070
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  
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, Sarah Sim, 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, Sarah Sim, Karolinska Institutet, Stockholm, Sweden  
CYP2S1
cytochrome P450, family 2, subfamily S, polypeptide 1
611529
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  
CYP2W1
cytochrome P450, family 2, subfamily W, polypeptide 1
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  
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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, 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, Sarah Sim, Karolinska Institutet, Stockholm, Sweden  
CYP4F2
cytochrome P450, family 4, subfamily F, polypeptide 2
604426
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  
CYSLTR1
cysteinyl leukotriene receptor 1
300201
CYSLTR1 database at LOVD
http://www.LOVD.nl/CYSLTR1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
Go Back To Main Index!
D2HGDH
D-2-hydroxyglutarate dehydrogenase
609186
D2HGDH database at LOVD
http://www.LOVD.nl/D2HGDH  
Gajja Salomons  
DACH2
dachshund homolog 2 (Drosophila)
300608
DACH2 database at LOVD
http://www.LOVD.nl/DACH2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DAG1
dystroglycan 1 (dystrophin-associated glycoprotein 1)
128239
Leiden Muscular Dystrophy pages
http://www.DMD.nl/DAG1  
JT den Dunnen  
DARC
Duffy blood group, chemokine receptor
110700
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
DCAF12L1
DDB1 and CUL4 associated factor 12-like 1
DCAF12L1 database at LOVD
http://www.LOVD.nl/DCAF12L1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DCAF12L2
DDB1 and CUL4 associated factor 12-like 2
DCAF12L2 database at LOVD
http://www.LOVD.nl/DCAF12L2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DCAF8L1
DDB1 and CUL4 associated factor 8-like 1
DCAF8L1 database at LOVD
http://www.LOVD.nl/DCAF8L1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
DDX3X
DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked
300160
DDX3X database at LOVD
http://www.LOVD.nl/DDX3X  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DDX53
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
DDX53 database at LOVD
http://www.LOVD.nl/DDX53  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DES
desmin
125660
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/DES  
Johan den Dunnen, LUMC, Leiden, Nederland  
DFNA5
deafness, autosomal dominant 5
608798
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  
DIAPH1
diaphanous homolog 1 (Drosophila)
602121
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  
DIAPH2
diaphanous homolog 2 (Drosophila)
300108
DIAPH2 database at LOVD
http://www.LOVD.nl/DIAPH2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
DKC1
dyskeratosis congenita 1, dyskerin
300126
The Telomerase Database
http://telomerase.asu.edu/diseases.html#dkc1  
Julian J-L Chen at Arizona State University  
DLG3
discs, large homolog 3 (Drosophila)
300189
DLG3 database at LOVD
http://www.LOVD.nl/DLG3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DMD
dystrophin
300377
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/DMD  
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands  
DMD
dystrophin
300377
The DMD mutations database UMD-DMD France
http://www.umd.be/DMD/W_DMD/index.html  
France Leturcq - Hôpital Cochin, Paris and Sylvie Tuffery-Giraud - Université Montpellier 1  
DNASE1L1
deoxyribonuclease I-like 1
300081
DNASE1L1 database at LOVD
http://www.LOVD.nl/DNASE1L1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
DPAGT1
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
191350
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs, Center for Human Genetics Leuven, Belgium  
DPM1
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
603503
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/  
Gert Matthijs Center for Human Genetics Leuven, Belgium  
DPYD
dihydropyrimidine dehydrogenase
274270
UMD Locus Specific Databases
http://www.umd.be/DPYD/  
Jean Christophe Boyer, Nimes, France  
DRP2
dystrophin related protein 2
300052
DRP2 database at LOVD
http://www.LOVD.nl/DRP2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DSC2
desmocollin 2
125645
ARVD/C Genes Variants Database
http://www.arvcdatabase.info  
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands  
DSG2
desmoglein 2
125671
ARVD/C Genes Variants Database
http://www.arvcdatabase.info  
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands  
DSP
desmoplakin
125647
ARVD/C Genes Variants Database
http://www.arvcdatabase.info  
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands  
DTNA
dystrobrevin, alpha
601239
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/DTNA  
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands  
DUSP21
dual specificity phosphatase 21
300678
DUSP21 database at LOVD
http://www.LOVD.nl/DUSP21  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DYNLT3
dynein, light chain, Tctex-type 3
300302
DYNLT3 database at LOVD
http://www.LOVD.nl/DYNLT3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
DYSF
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
603009
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/DYSF  
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands  
Go Back To Main Index!
EDA
ectodysplasin A
300451
EDA database at LOVD
http://www.LOVD.nl/EDA  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EDA2R
ectodysplasin A2 receptor
300276
EDA2R database at LOVD
http://www.LOVD.nl/EDA2R  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EFEMP1
EGF-containing fibulin-like extracellular matrix protein 1
601548
Mutations of the EGF-containing fibulin-like extracellular matrix protein 1
http://www.retina-international.org/sci-news/efempmut.htm  
Retina International  
EFHC2
EF-hand domain (C-terminal) containing 2
EFHC2 database at LOVD
http://www.LOVD.nl/EFHC2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EFNB1
ephrin-B1
300035
EFNB1 database at LOVD
http://www.LOVD.nl/EFNB1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EGFL6
EGF-like-domain, multiple 6
300239
EGFL6 database at LOVD
http://www.LOVD.nl/EGFL6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EGR2
early growth response 2 (Krox-20 homolog, Drosophila)
129010
Mutation Database of Inherited Peripheral Neuropathies
http://www.molgen.ua.ac.be/CMTMutations/  
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium  
EIF2S3
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
300161
EIF2S3 database at LOVD
http://www.LOVD.nl/EIF2S3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ELA2
elastase 2, neutrophil
130130
ELA2base: Mutation registry for Cyclic and congenital neutropenia
http://bioinf.uta.fi/ELA2base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
ELF4
E74-like factor 4 (ets domain transcription factor)
300775
ELF4 database at LOVD
http://www.LOVD.nl/ELF4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ELK1
ELK1, member of ETS oncogene family
311040
ELK1 database at LOVD
http://www.LOVD.nl/ELK1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
ELOVL4
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
605512
Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene
http://www.retina-international.org/sci-news/elovlmut.htm  
Retina International  
EMD
emerin
300384
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/EMD  
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands  
EMD
emerin
300384
The UMD EMD mutations database
http://www.umd.be/EMD/  
G. Bonne, France  
ENG
endoglin
131195
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.macs.hw.ac.uk/hht/  
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK  
ENOX2
ecto-NOX disulfide-thiol exchanger 2
300282
ENOX2 database at LOVD
http://www.LOVD.nl/ENOX2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EP300
E1A binding protein p300
602700
EP300 - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/EP300  
Dorien Peters, Clinical Genetics, LUMC, Leiden  
EPCAM
epithelial cell adhesion molecule
185535
InSiGHT - EPCAM
http://www.LOVD.nl/EPCAM  
Michael Woods, Amanda Dohey and Johan den Dunnen  
ERCC2
excision repair cross-complementing rodent repair deficiency, complementation group 2
126340
Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database
http://lovd.bx.psu.edu/home.php?select_db=ERCC2  
Belinda Giardine and Joseph Borg  
ERMAP
erythroblast membrane-associated protein (Scianna blood group)
609017
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  
ESCO2
establishment of cohesion 1 homolog 2 (S. cerevisiae)
609353
ESCO2 database at LOVD
http://www.LOVD.nl/ESCO2  
Birgitt Schuele, USA  
ESX1
ESX homeobox 1
300154
ESX1 database at LOVD
http://www.LOVD.nl/ESX1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
EYA4
eyes absent homolog 4 (Drosophila)
603550
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  
Go Back To Main Index!
F12
coagulation factor XII (Hageman factor)
610619
F12base: Mutation registry for Hereditary angioedema type III
http://bioinf.uta.fi/F12base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
F7
coagulation factor VII (serum prothrombin conversion accelerator)
227500
Factor VII Mutation Database; & Factor VIII: The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS)
http://europium.csc.mrc.ac.uk/  
MRC Clinical Sci. Centre, London, U.K.  
F8
coagulation factor VIII, procoagulant component
306700
Factor VII Mutation Database; & Factor VIII: The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS)
http://europium.csc.mrc.ac.uk/  
MRC Clinical Sci. Centre, London, U.K.  
F9
coagulation factor IX
300746
Haemophilia B Mutation Database
http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html  
P.M Green, F. Giannelli Division of Genetics & Development 7th Floor Guys Tower, GKT School of Medicine, Guy's Hospital London SE1 9RT United Kingdom and consortium  
FAAH2
fatty acid amide hydrolase 2
300654
FAAH2 database at LOVD
http://www.LOVD.nl/FAAH2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM120C
family with sequence similarity 120C
300741
FAM120C database at LOVD
http://www.LOVD.nl/FAM120C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM122B
family with sequence similarity 122B
FAM122B database at LOVD
http://www.LOVD.nl/FAM122B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM122C
family with sequence similarity 122C
FAM122C database at LOVD
http://www.LOVD.nl/FAM122C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM123B
family with sequence similarity 123B
300647
FAM123B database at LOVD
http://www.LOVD.nl/FAM123B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM133A
family with sequence similarity 133, member A
FAM133A database at LOVD
http://www.LOVD.nl/FAM133A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM155B
family with sequence similarity 155, member B
FAM155B database at LOVD
http://www.LOVD.nl/FAM155B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM3A
family with sequence similarity 3, member A
300492
FAM3A database at LOVD
http://www.LOVD.nl/FAM3A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM45B
family with sequence similarity 45, member B
FAM45B database at LOVD
http://www.LOVD.nl/FAM45B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM46D
family with sequence similarity 46, member D
FAM46D database at LOVD
http://www.LOVD.nl/FAM46D  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM47A
family with sequence similarity 47, member A
FAM47A database at LOVD
http://www.LOVD.nl/FAM47A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM47B
family with sequence similarity 47, member B
FAM47B database at LOVD
http://www.LOVD.nl/FAM47B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM47C
family with sequence similarity 47, member C
FAM47C database at LOVD
http://www.LOVD.nl/FAM47C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM50A
family with sequence similarity 50, member A
300453
FAM50A database at LOVD
http://www.LOVD.nl/FAM50A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM9A
family with sequence similarity 9, member A
300477
FAM9A database at LOVD
http://www.LOVD.nl/FAM9A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FAM9C
family with sequence similarity 9, member C
300479
FAM9C database at LOVD
http://www.LOVD.nl/FAM9C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FANCA
Fanconi anemia, complementation group A
607139
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  
FANCB
Fanconi anemia, complementation group B
300515
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  
FANCC
Fanconi anemia, complementation group C
227645
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  
FANCD2
Fanconi anemia, complementation group D2
227646
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  
FANCE
Fanconi anemia, complementation group E
600901
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  
FANCF
Fanconi anemia, complementation group F
603467
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  
FANCG
Fanconi anemia, complementation group G
602956
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  
FANCI
Fanconi anemia, complementation group I
611360
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  
FANCL
Fanconi anemia, complementation group L
608111
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  
FANCM
Fanconi anemia, complementation group M
609644
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/  
Arleen Auerbach, Rockefeller University, New York, USA  
FAS
Fas (TNF receptor superfamily, member 6)
134637
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS
http://research.nhgri.nih.gov/ALPS/  
Jennifer Puck, Stephen Straus, Michael Lenardo, Janet Dale, Joie Davis, Lilia Lei Bi, Jin Wang, NIAID & NHGRI, NIH, U.S.A.  
FASLG
Fas ligand (TNF superfamily, member 6)
134638
FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)
http://bioinf.uta.fi/FASLGbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
FATE1
fetal and adult testis expressed 1
300450
FATE1 database at LOVD
http://www.LOVD.nl/FATE1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FBN1
fibrillin 1
134797
The UMD FBN1 mutations database
http://www.umd.be/FBN1/  
Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France  
FBN2
fibrillin 2
612570
The UMD FBN2 mutations database
http://194.167.35.168/FBN2/  
G. Collod-Béroud  
FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64)
146760
FCGR1Abase: Mutation registry for CD64 deficiency
http://bioinf.uta.fi/FCGR1Abase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
FCGR3A
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
146740
FCGR3Abase: Mutation registry for Natural killer cell deficiency
http://bioinf.uta.fi/FCGR3Abase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
FGA
fibrinogen alpha chain
134820
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/  
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France  
FGB
fibrinogen beta chain
134830
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/  
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France  
FGD1
FYVE, RhoGEF and PH domain containing 1
300546
FGD1 database at LOVD
http://www.LOVD.nl/FGD1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FGG
fibrinogen gamma chain
134850
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/  
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France  
FH
fumarate hydratase
136850
FH database at LOVD
http://www.LOVD.nl/FH  
Jean-Pierre Bayley, LUMC, Leiden  
FHL1
four and a half LIM domains 1
300163
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/FHL1  
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands  
FIGF
c-fos induced growth factor (vascular endothelial growth factor D)
300091
FIGF database at LOVD
http://www.LOVD.nl/FIGF  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FKBP10
FK506 binding protein 10, 65 kDa
607063
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/  
Raymond Dalgleish, Leicester, UK.  
FKRP
fukutin related protein
606596
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/FKRP  
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal  
FKTN
fukutin
607440
FCMD - Fukuyama type congenital muscular dystrophy
http://www.DMD.nl/FKTN  
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal  
FLCN
folliculin
607273
Folliculin (FLCN) variation database
http://www.lovd.nl/FLCN  
Dr. Derek Lim, Prof. Eamonn Maher, European Birt-Hogg-Dube Consortium, University of Birmingham School of Medicine, UK  
FLNA
filamin A, alpha
300017
Filamin A, alpha (FLNA) Mental Retardation Database
http://www.LOVD.nl/FLNA  
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands  
FLT1
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)
165070
Fms-related tyrosine kinase 1 (FLT1) database
http://lovd.bx.psu.edu/home.php?select_db=FLT1  
Belinda Giardine and Joseph Borg  
FMO3
flavin containing monooxygenase 3
136132
The Homo sapients FMO3 Allelic Variant Database
http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3/  
Elizabeth A. Shephard, Sarah Addou Dept. Biochem. & Molecular Biol. Univ. College London. UK Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK  
FMR1
fragile X mental retardation 1
309550
FMR1 database at LOVD
http://www.LOVD.nl/FMR1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FMR1NB
fragile X mental retardation 1 neighbor
FMR1NB database at LOVD
http://www.LOVD.nl/FMR1NB  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FOXL2
forkhead box L2
605597
The Human FOXL2 Allelic Variant Database
http://medgen.ugent.be/foxl2/  
Diane Beysen, Elfride de Baere Centre for Medical Genetics Gent, Belgium  
FOXN1
forkhead box N1
600838
FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)
http://bioinf.uta.fi/FOXN1base/  
Mauno Vihinen & Claudio Pignata, Univ. of Tampere, Tampere, Finland  
FOXO4
forkhead box O4
300033
FOXO4 database at LOVD
http://www.LOVD.nl/FOXO4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FOXP3
forkhead box P3
300292
FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX
http://bioinf.uta.fi/FOXP3base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
FRMPD3
FERM and PDZ domain containing 3
FRMPD3 database at LOVD
http://www.LOVD.nl/FRMPD3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FRMPD4
FERM and PDZ domain containing 4
FRMPD4 database at LOVD
http://www.LOVD.nl/FRMPD4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FSCN2
fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
607643
Mutations of the Fascin Gene
http://www.retina-international.org/sci-news/fscn2mut.htm  
Retina International  
FTHL17
ferritin, heavy polypeptide-like 17
300308
FTHL17 database at LOVD
http://www.LOVD.nl/FTHL17  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FTSJ1
FtsJ homolog 1 (E. coli)
300499
FTSJ1 database at LOVD
http://www.LOVD.nl/FTSJ1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FUNDC1
FUN14 domain containing 1
FUNDC1 database at LOVD
http://www.LOVD.nl/FUNDC1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
FUT1
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
211100
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
FUT2
fucosyltransferase 2 (secretor status included)
182100
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
FUT3
fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
111100
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
FUT6
fucosyltransferase 6 (alpha (1,3) fucosyltransferase)
136836
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
FUT7
fucosyltransferase 7 (alpha (1,3) fucosyltransferase)
602030
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
Go Back To Main Index!
G6PD
glucose-6-phosphate dehydrogenase
305900
G6PD Mutations
http://www.bioinf.org.uk/g6pd/  
Colin Kwok, Department of Biochemistry, Faculty of Medicine, The University of Hong Kong & Andrew C.R. Martin Department of Biochemistry and Molecular Biology, University College London  
GAA
glucosidase, alpha; acid
606800
GAA - Pompe disease (glycogen storage disease type II)
http://www.LOVD.nl/GAA  
Johan T. den Dunnen, LUMC, The Netherlands, Arnold Reuser & Marian Kroos, EUR, Rotterdam, Nederland  
GAB3
GRB2-associated binding protein 3
300482
GAB3 database at LOVD
http://www.LOVD.nl/GAB3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GABRE
gamma-aminobutyric acid (GABA) A receptor, epsilon
300093
GABRE database at LOVD
http://www.LOVD.nl/GABRE  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GABRQ
gamma-aminobutyric acid (GABA) receptor, theta
300349
GABRQ database at LOVD
http://www.LOVD.nl/GABRQ  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GALT
galactose-1-phosphate uridylyltransferase
606999
Galactosaemia
http://www.ich.bris.ac.uk/galtdb/  
Linda Tyfield, David Carmichael, Inst. Child Health, Univ. Bristol, Bristol, UK  
GALT
galactose-1-phosphate uridylyltransferase
606999
Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database
http://arup.utah.edu/database/galactosemia/GALT_welcome.php  
Rong Mao and Fernanda Calderon, Department of Pathology, University of Utah, USA.  
GAMT
guanidinoacetate N-methyltransferase
601240
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GAMT  
Gajja Salomons  
GAN
gigaxonin
605379
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  
GARS
glycyl-tRNA synthetase
600287
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  
GATM
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
602360
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GATM  
Gajja Salomons  
GCH1
GTP cyclohydrolase 1
600225
GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database
http://www.bh4.org/  
N. Blau, Univ. Children's Hospital,Zurich, J.L. Dhont- Faculté libre de Médicine,Lille  
GDAP1
ganglioside-induced differentiation-associated protein 1
606598
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  
GDPD2
glycerophosphodiester phosphodiesterase domain containing 2
GDPD2 database at LOVD
http://www.LOVD.nl/GDPD2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GEMIN8
gem (nuclear organelle) associated protein 8
GEMIN8 database at LOVD
http://www.LOVD.nl/GEMIN8  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GFI1
growth factor independent 1 transcription repressor
600871
GFI1base: Mutation registry for SCN and NI-CINA
http://bioinf.uta.fi/GFI1base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
GHR
growth hormone receptor
600946
LOVD growth
http://www.LOVD.nl/GHR  
LA Metherell and MO Savage  
GIGYF2
GRB10 interacting GYF protein 2
612003
PARK11 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK11  
The Parkinson's Institute  
GJA1
gap junction protein, alpha 1, 43kDa
121014
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  
GJA1
gap junction protein, alpha 1, 43kDa
121014
The Connexin-deafness homepage
http://davinci.crg.es/deafness/  
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain  
GJB1
gap junction protein, beta 1, 32kDa
304040
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  
GJB1
gap junction protein, beta 1, 32kDa
304040
The Connexin-deafness homepage
http://davinci.crg.es/deafness/  
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain  
GJB2
gap junction protein, beta 2, 26kDa
121011
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  
GJB2
gap junction protein, beta 2, 26kDa
121011
The Connexin-deafness homepage
http://davinci.crg.es/deafness/  
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain  
GJB2
gap junction protein, beta 2, 26kDa
121011
The UMD DFNB1-GJB2 mutations database
http://www.umd.be/DFNB1-GJB2/  
A.-F. Roux and D. Baux  
GJB3
gap junction protein, beta 3, 31kDa
603324
The Connexin-deafness homepage
http://davinci.crg.es/deafness/  
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain  
GJB3
gap junction protein, beta 3, 31kDa
603324
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  
GJB6
gap junction protein, beta 6
604418
The Connexin-deafness homepage
http://davinci.crg.es/deafness/  
Ester Ballana, Marina Ventayol, R Rabionet, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain  
GJB6
gap junction protein, beta 6
604418
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  
GK
glycerol kinase
300474
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/GK  
Johan T. den Dunnen Leiden Univ. Med Centre  
GLA
galactosidase, alpha
300644
GLA database at LOVD
http://www.LOVD.nl/GLA  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GLOD5
glyoxalase domain containing 5
GLOD5 database at LOVD
http://www.LOVD.nl/GLOD5  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GLRA1
glycine receptor, alpha 1
138491
GLRA1 database at LOVD
http://www.LOVD.nl/GLRA1  
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands  
GLRA2
glycine receptor, alpha 2
305990
GLRA2 database at LOVD
http://www.LOVD.nl/GLRA2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GLRA4
glycine receptor, alpha 4
GLRA4 database at LOVD
http://www.LOVD.nl/GLRA4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GLUD2
glutamate dehydrogenase 2
300144
GLUD2 database at LOVD
http://www.LOVD.nl/GLUD2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GM2A
GM2 ganglioside activator
272750
GM2A Locus Database
http://www.hexdb.mcgill.ca  
F. Kaplan, Paulo Cordeiro, McGill University, Montreal, Canada  
GNAS
GNAS complex locus
139320
A database of mutations in the human GNAS1 gene
http://www.le.ac.uk/genetics/maa7/GNAS1/  
Micheala A. Aldred, Molecular Genetics, Dept.Leicester, Royal Infirmary, Leicester, U.K.  
GNAT2
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
139340
Mutations of the Transducin Subunits
http://www.retina-international.org/sci-news/gntmut.htm  
Retina International  
GNL3L
guanine nucleotide binding protein-like 3 (nucleolar)-like
GNL3L database at LOVD
http://www.LOVD.nl/GNL3L  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GP1BB
glycoprotein Ib (platelet), beta polypeptide
138720
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html  
Dermot Kenny, Royal College of Surgeons in Ireland  
GP9
glycoprotein IX (platelet)
173515
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html  
Dermot Kenny, Royal College of Surgeons in Ireland  
GPC4
glypican 4
300168
GPC4 database at LOVD
http://www.LOVD.nl/GPC4  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPM6B
glycoprotein M6B
300051
GPM6B database at LOVD
http://www.LOVD.nl/GPM6B  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPM6B
glycoprotein M6B
300051
Glycoprotein M6B (GPM6B) database
http://lovd.bx.psu.edu/home.php?select_db=GPM6B  
Belinda Giardine and Joseph Borg  
GPR101
G protein-coupled receptor 101
300393
GPR101 database at LOVD
http://www.LOVD.nl/GPR101  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR112
G protein-coupled receptor 112
GPR112 database at LOVD
http://www.LOVD.nl/GPR112  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR119
G protein-coupled receptor 119
300513
GPR119 database at LOVD
http://www.LOVD.nl/GPR119  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR143
G protein-coupled receptor 143
300500
Albinism Database
http://albinismdb.med.umn.edu/  
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota  
GPR143
G protein-coupled receptor 143
300500
Mutations of the OA1 Gene
http://www.retina-international.org/sci-news/oa1mut.htm  
Retina International  
GPR173
G protein-coupled receptor 173
300253
GPR173 database at LOVD
http://www.LOVD.nl/GPR173  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR174
G protein-coupled receptor 174
GPR174 database at LOVD
http://www.LOVD.nl/GPR174  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR50
G protein-coupled receptor 50
300207
GPR50 database at LOVD
http://www.LOVD.nl/GPR50  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR64
G protein-coupled receptor 64
300572
GPR64 database at LOVD
http://www.LOVD.nl/GPR64  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPR82
G protein-coupled receptor 82
300748
GPR82 database at LOVD
http://www.LOVD.nl/GPR82  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPRASP1
G protein-coupled receptor associated sorting protein 1
300417
GPRASP1 database at LOVD
http://www.LOVD.nl/GPRASP1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GPRASP2
G protein-coupled receptor associated sorting protein 2
GPRASP2 database at LOVD
http://www.LOVD.nl/GPRASP2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GRIA3
glutamate receptor, ionotrophic, AMPA 3
305915
GRIA3 database at LOVD
http://www.LOVD.nl/GRIA3  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GRIPAP1
GRIP1 associated protein 1
300408
GRIPAP1 database at LOVD
http://www.LOVD.nl/GRIPAP1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GRK1
G protein-coupled receptor kinase 1
180381
Mutations of the Rhodopsin Kinase Gene
http://www.retina-international.org/sci-news/rhokmut.htm  
Retina International  
GRPR
gastrin-releasing peptide receptor
305670
GRPR database at LOVD
http://www.LOVD.nl/GRPR  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GSPT2
G1 to S phase transition 2
300418
GSPT2 database at LOVD
http://www.LOVD.nl/GSPT2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GTPBP6
GTP binding protein 6 (putative)
300124
GTPBP6 database at LOVD
http://www.LOVD.nl/GTPBP6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GUCY2D
guanylate cyclase 2D, membrane (retina-specific)
600179
Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene
http://www.retina-international.org/sci-news/gcmut.htm  
Retina International  
GUCY2F
guanylate cyclase 2F, retinal
300041
GUCY2F database at LOVD
http://www.LOVD.nl/GUCY2F  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GYG2
glycogenin 2
300198
GYG2 database at LOVD
http://www.LOVD.nl/GYG2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
GYPA
glycophorin A (MNS blood group)
111300
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
GYPB
glycophorin B (MNS blood group)
111740
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
GYPC
glycophorin C (Gerbich blood group)
110750
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
GYPE
glycophorin E
138590
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
Go Back To Main Index!
H2BFWT
H2B histone family, member W, testis-specific
300507
H2BFWT database at LOVD
http://www.LOVD.nl/H2BFWT  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HAO2
hydroxyacid oxidase 2 (long chain)
605176
Hydroxyacid oxidase 2 (long chain) (HAO2) database
http://lovd.bx.psu.edu/home.php?select_db=HAO2  
Belinda Giardine and Joseph Borg  
HAUS7
HAUS augmin-like complex, subunit 7
300540
HAUS7 database at LOVD
http://www.LOVD.nl/HAUS7  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HBA1
hemoglobin, alpha 1
141800
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBA1
hemoglobin, alpha 1
141800
Alpha-1 globin (HBA1) database
http://lovd.bx.psu.edu/home.php?select_db=HBA1  
Belinda Giardine and Joseph Borg  
HBA2
hemoglobin, alpha 2
141850
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBA2
hemoglobin, alpha 2
141850
Alpha-2 globin (HBA2) database
http://lovd.bx.psu.edu/home.php?select_db=HBA2  
Belinda Giardine and Joseph Borg  
HBB
hemoglobin, beta
141900
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBB
hemoglobin, beta
141900
Beta globin (HBB) database
http://lovd.bx.psu.edu/home.php?select_db=HBB  
Belinda Giardine and Joseph Borg  
HBD
hemoglobin, delta
142000
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBD
hemoglobin, delta
142000
Delta globin (HBD) database
http://lovd.bx.psu.edu/home.php?select_db=HBD  
Belinda Giardine and Joseph Borg  
HBG1
hemoglobin, gamma A
142200
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBG1
hemoglobin, gamma A
142200
A-gamma globin (HBG1) database
http://lovd.bx.psu.edu/home.php?select_db=HBG1  
Belinda Giardine and Joseph Borg  
HBG2
hemoglobin, gamma G
142250
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html  
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France  
HBG2
hemoglobin, gamma G
142250
G-gamma globin (HBG2) databse
http://lovd.bx.psu.edu/home.php?select_db=HBG2  
Belinda Giardine and Joseph Borg  
HBS1L
HBS1-like (S. cerevisiae)
612450
HBS1-like (HBS1L) database
http://lovd.bx.psu.edu/home.php?select_db=HBS1L  
Belinda Giardine and Joseph Borg  
HCCS
holocytochrome c synthase (cytochrome c heme-lyase)
300056
HCCS database at LOVD
http://www.LOVD.nl/HCCS  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HCFC1
host cell factor C1 (VP16-accessory protein)
300019
HCFC1 database at LOVD
http://www.LOVD.nl/HCFC1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HDAC6
histone deacetylase 6
300272
HDAC6 database at LOVD
http://www.LOVD.nl/HDAC6  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HDAC8
histone deacetylase 8
300269
HDAC8 database at LOVD
http://www.LOVD.nl/HDAC8  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HDHD1A
haloacid dehalogenase-like hydrolase domain containing 1A
306480
HDHD1A database at LOVD
http://www.LOVD.nl/HDHD1A  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HEPH
hephaestin
300167
HEPH database at LOVD
http://www.LOVD.nl/HEPH  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HEXA
hexosaminidase A (alpha polypeptide)
606869
Hexosaminidase A; Tay-Sachs Disease
http://www.hexdb.mcgill.ca  
Feige Kaplan, Manyphong Phommarinh, McGill Univ. Montreal, Canada  
HEXB
hexosaminidase B (beta polypeptide)
606873
HEXB Locus Database
http://www.hexdb.mcgill.ca  
F. Kaplan, Paulo Cordeiro, Manyphong Phommarinh, McGill University, Montreal, Canada  
HGD
homogentisate 1,2-dioxygenase (homogentisate oxidase)
607474
AKUdatabaseHomogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page
http://www.alkaptonuria.cib.csic.es/index.htm  
Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de BernabéCentro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain (Inactive)  
HLA-A
major histocompatibility complex, class I, A
142800
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-B
major histocompatibility complex, class I, B
142830
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-C
major histocompatibility complex, class I, C
142840
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DMA
major histocompatibility complex, class II, DM alpha
142855
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DMB
major histocompatibility complex, class II, DM beta
142856
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DOA
major histocompatibility complex, class II, DO alpha
142930
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DOB
major histocompatibility complex, class II, DO beta
600629
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
142880
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DPA2
major histocompatibility complex, class II, DP alpha 2 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DPA3
major histocompatibility complex, class II, DP alpha 3 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DPB1
major histocompatibility complex, class II, DP beta 1
142858
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DPB2
major histocompatibility complex, class II, DP beta 2 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
146880
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DQA2
major histocompatibility complex, class II, DQ alpha 2
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
604305
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DQB2
major histocompatibility complex, class II, DQ beta 2
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DQB3
major histocompatibility complex, class II, DQ beta 3
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRA
major histocompatibility complex, class II, DR alpha
142860
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
142857
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB2
major histocompatibility complex, class II, DR beta 2 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB3
major histocompatibility complex, class II, DR beta 3
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB4
major histocompatibility complex, class II, DR beta 4
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB5
major histocompatibility complex, class II, DR beta 5
604776
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB6
major histocompatibility complex, class II, DR beta 6 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB7
major histocompatibility complex, class II, DR beta 7 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB8
major histocompatibility complex, class II, DR beta 8 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-DRB9
major histocompatibility complex, class II, DR beta 9 (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-E
major histocompatibility complex, class I, E
143010
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-F
major histocompatibility complex, class I, F
143110
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-G
major histocompatibility complex, class I, G
142871
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-H
major histocompatibility complex, class I, H (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-J
major histocompatibility complex, class I, J (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-K
major histocompatibility complex, class I, K (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-L
major histocompatibility complex, class I, L (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-N
major histocompatibility complex, class I, N (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-P
major histocompatibility complex, class I, P (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-S
major histocompatibility complex, class I, S (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-T
major histocompatibility complex, class I, T (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-U
major histocompatibility complex, class I, U (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-V
major histocompatibility complex, class I, V (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-W
major histocompatibility complex, class I, W (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-X
major histocompatibility complex, class I, X (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-Y
major histocompatibility complex, class I, Y (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HLA-Z
major histocompatibility complex, class I, Z (pseudogene)
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/  
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK  
HNF1A
HNF1 homeobox A
142410
HNF1A at LOVD
http://www.LOVD.nl/HNF1A  
Monique Losekoot, LUMC, Leiden, Netherlands  
HNF4A
hepatocyte nuclear factor 4, alpha
600281
HNF4A at LOVD
http://www.LOVD.nl/HNF4A  
Monique Losekoot, LUMC, Leiden, Netherlands  
HPRT1
hypoxanthine phosphoribosyltransferase 1
308000
Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome
http://www.ibiblio.org/dnam/mainpage.html  
Neil Cariello, Univ. Nth Carolina, USA  
HPS1
Hermansky-Pudlak syndrome 1
604982
Albinism Database
http://albinismdb.med.umn.edu/  
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA  
HPS1
Hermansky-Pudlak syndrome 1
604982
Mutations of the ep-Gene
http://www.retina-international.org/sci-news/epmut.htm  
Retina International  
HPS1
Hermansky-Pudlak syndrome 1
604982
Mutations of the HPS Gene
http://www.retina-international.org/sci-news/hpsmut.htm  
Retina International  
HPS3
Hermansky-Pudlak syndrome 3
606118
Mutations of the HPS3 Gene
http://www.retina-international.org/sci-news/hps3mut.htm  
Retina International  
HPS3
Hermansky-Pudlak syndrome 3
606118
Albinism Database
http://albinismdb.med.umn.edu/  
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA  
HPS4
Hermansky-Pudlak syndrome 4
606682
Mutations of the Human light ear Gene (le, HPS4)
http://www.retina-international.org/sci-news/lemut.htm  
Retina International  
HS6ST2
heparan sulfate 6-O-sulfotransferase 2
300545
HS6ST2 database at LOVD
http://www.LOVD.nl/HS6ST2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HSD17B10
hydroxysteroid (17-beta) dehydrogenase 10
300256
HSD17B10 database at LOVD
http://www.LOVD.nl/HSD17B10  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HSN2
hereditary sensory neuropathy, type II
608620
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  
HSPB1
heat shock 27kDa protein 1
602195
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  
HSPB8
heat shock 22kDa protein 8
608014
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  
HTATSF1
HIV-1 Tat specific factor 1
300346
HTATSF1 database at LOVD
http://www.LOVD.nl/HTATSF1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HTR2C
5-hydroxytryptamine (serotonin) receptor 2C
312861
HTR2C database at LOVD
http://www.LOVD.nl/HTR2C  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A
182139
HTR3A database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=HTR3A  
Steffi Wilke and Dr. Beate Niesler, Heidelberg University  
HUWE1
HECT, UBA and WWE domain containing 1
300697
HUWE1 database at LOVD
http://www.LOVD.nl/HUWE1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
Go Back To Main Index!
ICAM4
intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)
111250
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?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  
ICOS
inducible T-cell co-stimulator
604558
ICOSbase: Mutation registry for ICOS deficiency
http://bioinf.uta.fi/ICOSbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IDS
iduronate 2-sulfatase
309900
Mucopolysaccharidosis
http://www.peds.umn.edu/gene  
Chester B. Whitley, Univ. of Minnesota  
IFNGR1
interferon gamma receptor 1
107470
IFNGR1base: Mutation registry for IFNγ1-receptor deficiency
http://bioinf.uta.fi/IFNGR1base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IFNGR2
interferon gamma receptor 2 (interferon gamma transducer 1)
147569
IFNGR2base: Mutation registry for IFNγ2-receptor deficiency
http://bioinf.uta.fi/IFNGR2base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IGBP1
immunoglobulin (CD79A) binding protein 1
300139
IGBP1 database at LOVD
http://www.LOVD.nl/IGBP1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IGF1
insulin-like growth factor 1 (somatomedin C)
147440
LOVD growth
http://www.LOVD.nl/IGF1  
Jan Maarten Wit and Marie-Jose Walenkamp  
IGF1R
insulin-like growth factor 1 receptor
147370
LOVD growth
http://www.LOVD.nl/IGF1R  
Roland Pfaeffle and Wieland Kiess  
IGF2
insulin-like growth factor 2 (somatomedin A)
147470
LOVD growth
http://www.LOVD.nl/IGF2  
Irene Netchine and Yves le Bouc  
IGFALS
insulin-like growth factor binding protein, acid labile subunit
601489
IGFALS database at LOVD
http://www.LOVD.nl/IGFALS  
H Jasper and HM Domené  
IGHC
Immunoglobulin heavy constant group
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr/  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGHD
immunoglobulin heavy constant delta
147170
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGHG2
immunoglobulin heavy constant gamma 2 (G2m marker)
147110
IGHG2base: Mutation registry for IgG2 deficiency
http://bioinf.uta.fi/IGHG2base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IGHJ2
immunoglobulin heavy joining 2
147010
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGHM
immunoglobulin heavy constant mu
147020
IGHMbase: Mutation registry for µ heavy-chain deficiency
http://bioinf.uta.fi/IGHMbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IGHMBP2
immunoglobulin mu binding protein 2
600502
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  
IGHV@
immunoglobulin heavy variable group
147070
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGKC
immunoglobulin kappa constant
147200
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGKJ@
immunoglobulin kappa joining group
146970
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGKV@
immunoglobulin kappa variable group
146980
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGLC1
immunoglobulin lambda constant 1 (Mcg marker)
147220
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGLJ@
immunoglobulin lambda joining group
147230
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGLL1
immunoglobulin lambda-like polypeptide 1
146770
IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency
http://bioinf.uta.fi/IGLL1base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IGLV@
immunoglobulin lambda variable group
147240
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr  
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France  
IGSF1
immunoglobulin superfamily, member 1
300137
IGSF1 database at LOVD
http://www.LOVD.nl/IGSF1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IKBKAP
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
603722
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  
IKBKG
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
300248
IKBKGbase: Mutation registry for Nemo deficiency
http://bioinf.uta.fi/IKBKGbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IL12B
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
161561
IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
http://bioinf.uta.fi/IL12Bbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IL12RB1
interleukin 12 receptor, beta 1
601604
IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency
http://bioinf.uta.fi/IL12RB1base/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IL13RA1
interleukin 13 receptor, alpha 1
300119
IL13RA1 database at LOVD
http://www.LOVD.nl/IL13RA1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IL13RA2
interleukin 13 receptor, alpha 2
300130
IL13RA2 database at LOVD
http://www.LOVD.nl/IL13RA2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
300206
IL1RAPL1 database at LOVD
http://www.LOVD.nl/IL1RAPL1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IL1RAPL2
interleukin 1 receptor accessory protein-like 2
300277
IL1RAPL2 database at LOVD
http://www.LOVD.nl/IL1RAPL2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IL2RA
interleukin 2 receptor, alpha
147730
IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency
http://bioinf.uta.fi/IL2RAbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IL2RG
interleukin 2 receptor, gamma (severe combined immunodeficiency)
308380
X-Linked Severe Combined Immuno deficiency SCID
http://research.nhgri.nih.gov/apps/scid/IL2RGbase.shtml  
Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda  
IL7R
interleukin 7 receptor
146661
IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency
http://bioinf.uta.fi/IL7Rbase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
IL9R
interleukin 9 receptor
300007
IL9R database at LOVD
http://www.LOVD.nl/IL9R  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IMPDH1
IMP (inosine monophosphate) dehydrogenase 1
146690
Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene
http://www.retina-international.org/sci-news/impdhmut.htm  
Retina International  
INE1
inactivation escape 1 (non-protein coding)
300164
INE1 database at LOVD
http://www.LOVD.nl/INE1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IQSEC2
IQ motif and Sec7 domain 2
300522
IQSEC2 database at LOVD
http://www.LOVD.nl/IQSEC2  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IRAK1
interleukin-1 receptor-associated kinase 1
300283
IRAK1 database at LOVD
http://www.LOVD.nl/IRAK1  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
IRAK4
interleukin-1 receptor-associated kinase 4
606883
IRAK4base: Mutatio