|
|
Locus Specific Mutation Databases |
|
|
 |
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.
|
| 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 | |