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Locus Specific Mutation Databases |
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Genes are in order of HUGO
APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found
under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG"
and so on.
|
| Please select the first letter of the Gene: | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | ||
| OR | ||||||||||||||||||||||||||||
| Specify the HGNC Gene Symbol: | ||||||||||||||||||||||||||||
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HGNC GENE SYMBOL OMIM NO. |
DATABASE NAME
INTERNET ADDRESS |
CURATORS |
| Go Back To Main Index! | ||
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ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4 601691 |
Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/sci-news/abcrmut.htm |
Retina International |
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ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 603234 |
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
http://www.retina-international.org/sci-news/abcc6mut.htm |
Retina International |
|
ABCD1
ATP-binding cassette, sub-family D (ALD), member 1 300371 |
X-linked Adrenoleukodystrophy Database
http://www.x-ald.nl |
Hugo W. Moser Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA. Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr. Amsterdam, The Netherlands. |
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ABO
ABO blood group (transferase A, alpha 1-3-N-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 |
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ACHE
acetylcholinesterase (YT blood group) 100740 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
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ACTC1
actin, alpha, cardiac muscle 1 102540 |
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html |
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia |
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ACTC1
actin, alpha, cardiac muscle 1 102540 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/%7Eseidman/cg3/genes/ACTC_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School. |
|
ACVRL1
activin A receptor type II-like 1 601284 |
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://hhtmutation.org/ |
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK |
|
ADA
adenosine deaminase 608958 |
ADAbase: Mutation registry for Adenosine Deaminase Deficiency
http://bioinf.uta.fi/ADAbase/ |
Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland |
|
ADSL
adenylosuccinate lyase 608222 |
Adenylosuccinate Lyase Mutations Database Home Page
http://www.icp.ucl.ac.be/adsldb/ |
Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium |
|
AICDA
activation-induced cytidine deaminase 605257 |
AICDA base: Mutation registry for Aid deficiency
http://bioinf.uta.fi/AICDAbase/ |
Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland |
|
AIPL1
aryl hydrocarbon receptor interacting protein-like 1 604392 |
Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1
http://www.retina-international.org/sci-news/aipl1mut.htm |
Retina International |
|
AIRE
autoimmune regulator 607358 |
AIREbase: Mutation registry for APECED
http://bioinf.uta.fi/AIREbase/ |
Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland |
|
ALB
albumin 103600 |
Albumin mutation database
http://www.albumin.org/ |
Theodore Peters, Jr., Ph.D & Eugene W. Holowachuk, The Mary Imogene Bassett Hospital Research Institute Cooperstown, NY, U.S.A. |
|
ALDH1A1
aldehyde dehydrogenase 1 family, member A1 100640 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH2
aldehyde dehydrogenase 2 family (mitochondrial) 100650 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH3A1
aldehyde dehydrogenase 3 family, member A1 100660 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org/ |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH4A1
aldehyde dehydrogenase 4 family, member A1 606811 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org/ |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH9A1
aldehyde dehydrogenase 9 family, member A1 602733 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
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 |
|
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 |
|
ALPL
alkaline phosphatase, liver/bone/kidney 171760 |
Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
http://www.sesep.uvsq.fr/Database.html |
Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France |
|
ANK2
ankyrin 2, neuronal 106410 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting Int. Albinism Centre Univ. of Minnesota, U.S.A. |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
http://bioinf.uta.fi/AP3B1base/ |
Mauno Vihinen, Univ. of Tampere, Finland |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
Mutations of the Adaptin b3a Gene
http://www.retina-international.org/sci-news/adtb3mut.htm |
Retina International |
|
APC
adenomatous polyposis coli 611731 |
Adenomatous polyposis coli mutation database
http://p53.free.fr/ |
Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris |
|
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 |
|
APP
amyloid beta (A4) precursor protein 104760 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/ |
Marc Cruts Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
AQP1
aquaporin 1 (Colton blood group) 107776 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
AQP2
aquaporin 2 (collecting duct) 107777 |
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
|
AR
androgen receptor 313700 |
Androgen Receptor
http://androgendb.mcgill.ca/ |
Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada |
|
ARG1
arginase, liver 608313 |
ARG1database at LOVD
http://www.LOVD.nl/ARG1 |
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 |
|
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 |
|
ASL
argininosuccinate lyase 608310 |
ASL database at LOVD
http://www.LOVD.nl/ASL |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
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 |
|
ATM
ataxia telangiectasia mutated 607585 |
ATbase - a registry of patients with ataxia-telangiectasia
http://www.bionut.ki.se/ATbase/ |
Karolinska Insitutet Stockholm Sweden |
|
ATM
ataxia telangiectasia mutated 607585 |
ATM at LOVD
http://www.LOVD.nl/ATM |
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA |
|
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide 182340 |
ATP1A2 database at LOVD
http://www.LOVD.nl/ATP1A2 |
Boukje de Vries, LUMC, Leiden, The Netherlands |
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide 606882 |
Wilson Disease Mutation Database
http://www.medicalgenetics.med.ualberta.ca/wilson/index.php |
Susan Kenney, Diane Cox, Dept Med Gen, Univ Alberta, Canada |
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide 606882 |
The UMD ATP7B mutations database
http://www.umd.be/ATP7B/ |
Irene Ceballos, Paris, France |
|
AVP
arginine vasopressin 192340 |
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
|
AVPR2
arginine vasopressin receptor 2 300538 |
Nephrogenic Diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
| Go Back To Main Index! | ||
|
B3GALTL
beta 1,3-galactosyltransferase-like 610308 |
B3GALTL - Peters' Plus syndrome at LOVD
http://www.LOVD.nl/B3GALTL |
Janneke Weiss, LUMC, Leiden, Nederland |
|
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 |
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BCHE
butyrylcholinesterase 177400 |
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
http://bioweb.ensam.inra.fr/ESTHER/general?what=index |
Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France |
|
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 |
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BEST1
bestrophin 1 607854 |
Mutations of the Bestrophin Gene
http://www.retina-international.org/sci-news/vmd2mut.htm |
Retina International |
|
BFSP2
beaded filament structural protein 2, phakinin 603212 |
Human Intermediate Filament Mutation Database
http://www.interfil.org/ |
W.H.I. McLean, Andrew Cassidy, Epithelial Genetics Group, Univ. Department of Human Genetics, Ninewells Hospital in Dundee, UK |
|
BLM
Bloom syndrome, 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 |
|
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. |
|
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 |
|
BSCL2
Bernardinelli-Seip congenital lipodystrophy 2 (seipin) 606158 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
BSG
basigin (Ok blood group) 109480 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
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BTK
Bruton agammaglobulinemia tyrosine kinase 300300 |
BTK base: Mutation registry for X-linked agammaglobulinemia
http://bioinf.uta.fi/BTKbase/ |
Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland |
| Go Back To Main Index! | ||
|
C1QA
complement component 1, q subcomponent, A chain 120550 |
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index.php |
Mauno Vihinen, Univ. of Tampere, Finland |
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C1QB
complement component 1, q subcomponent, B chain 120570 |
C1QBbase: Mutation registry for C1qB deficiency
http://bioinf.uta.fi/C1QBbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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C1QC
complement component 1, q subcomponent, C chain 120575 |
C1QGbase: Mutation registry for C1qG deficiency
http://bioinf.uta.fi/C1QGbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
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 |
|
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 |
|
CASP10
caspase 10, apoptosis-related cysteine peptidase 601762 |
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
http://bioinf.uta.fi/CASP10base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CASP8
caspase 8, apoptosis-related cysteine peptidase 601763 |
CASP8base: Mutation registry for Caspase 8 deficiency
http://bioinf.uta.fi/CASP8base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CASR
calcium-sensing receptor 601199 |
CASRdb Calcium Sensing Receptor Locus Mutation Database
http://www.casrdb.mcgill.ca |
Svetlana Pidasheva, Geoff Hendy, Manyphong Phommarinh, L.D'Souza-Li, McGill University Healt Centre Montreal, Canada |
|
CAV3
caveolin 3 601253 |
Limb-Girdle Muscular Dystrophy type 1C
http://www.DMD.nl/CAV3 |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
|
CBS
cystathionine-beta-synthase 236200 |
Cystathionine beta-synthase database
http://www.uchsc.edu/cbs/ |
Jan P. Kraus Univ. of Colorado Denver, U.S.A. |
|
CD19
CD19 molecule 107265 |
CD19base: Mutation registry for CD19 deficiency
http://bioinf.uta.fi/CD19base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD247
CD247 molecule 186780 |
CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency
http://bioinf.uta.fi/CD247base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD3D
CD3d molecule, delta (CD3-TCR complex) 186790 |
CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
http://bioinf.uta.fi/CD3Dbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD3E
CD3e molecule, epsilon (CD3-TCR complex) 186830 |
CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
http://bioinf.uta.fi/CD3Ebase/ |
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland |
|
CD3G
CD3g molecule, gamma (CD3-TCR complex) 186740 |
CD3Gbase: Mutation registry for autosomal 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 |
|
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 |
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 600160 |
CDKN2a Database Project (a human p16 database with annotation)
http://biodesktop.uvm.edu/perl/p16 |
Marc Greenblatt Univ. of Vermont, Burlington VT, USA |
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 600160 |
CDKN2A database at LOVD
http://www.LOVD.nl/CDKN2A |
Janneke Weiss, LUMC, Leiden, The Netherlands |
|
CEBPE
CCAAT/enhancer binding protein (C/EBP), epsilon 600749 |
CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
http://bioinf.uta.fi/CEBPEbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CFD
Complement Factor D (adipsin) 134350 |
CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase)
http://bioinf.uta.fi/CFDbase/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CFH
complement factor H 134370 |
CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
http://bioinf.uta.fi/CFHbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CFI
complement factor I 217030 |
CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
http://bioinf.uta.fi/CFIbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CFP
complement factor properdin 300383 |
PFCbase: Mutation registry for properdin deficiency
http://bioinf.uta.fi/PFCbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CFTR
cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) 602421 |
Cystic Fibrosis
http://www.genet.sickkids.on.ca/cftr/ |
Lap Chee Tsui The Hospital for Sick Children, Toronto, Canada |
|
CHM
choroideremia (Rab escort protein 1) 300390 |
Mutations of the Rab Escort Protein 1
http://www.retina-international.org/sci-news/repmut.htm |
Retina International |
|
CIITA
class II, major histocompatibility complex, transactivator 600005 |
CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)
http://bioinf.uta.fi/CIITAbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CILD2
ciliary dyskinesia, primary 2 606763 |
Premature Centromere Division-BIOMED database
http://www.bh4.org/ |
N. Blau, Univ.Children's Hospital, Zurich, J.L. Dhont, Faculté libre de Médicine, Lille, France, I.Dianzani, Univ.Torino, Torino, Italy |
|
CLCN1
chloride channel 1, skeletal muscle 118425 |
CLCN1 - Chloride channel 1, skeletal muscle
http://www.LOVD.nl/CLCN1 |
Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden |
|
CLCN7
chloride channel 7 602727 |
CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2
http://bioinf.uta.fi/CLCN7base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CLDN14
claudin 14 605608 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
CLN3
ceroid-lipofuscinosis, neuronal 3 607042 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN3
ceroid-lipofuscinosis, neuronal 3 607042 |
Mutations of the CLN3 Gene
http://www.retina-international.org/sci-news/cln3mut.htm |
Retina International |
|
CLN4
ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 204300 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN5
ceroid-lipofuscinosis, neuronal 5 608102 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN6
ceroid-lipofuscinosis, neuronal 6, late infantile, variant 606725 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN8
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 607837 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLRN1
clarin 1 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 |
|
CNGA3
cyclic nucleotide gated channel alpha 3 600053 |
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga3mut.htm |
Retina International |
|
COCH
coagulation factor C homolog, cochlin (Limulus polyphemus) 603196 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
COL11A2
collagen, type XI, alpha 2 120290 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
COL1A1
collagen, type I, alpha 1 120150 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL1A2
collagen, type I, alpha 2 120160 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL3A1
collagen, type III, alpha 1 120180 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
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 |
|
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 |
|
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 type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
CRX
cone-rod homeobox 602225 |
Mutations of the Cone Rod Homeobox Gene
http://www.retina-international.org/sci-news/crxmut.htm |
Retina International |
|
CRYAA
crystallin, alpha A 123580 |
CRYAA database at LOVD
http://www.LOVD.nl/CRYAA |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYAB
crystallin, alpha B 123590 |
CRYAB database at LOVD
http://www.LOVD.nl/CRYAB |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBA1
crystallin, beta A1 123610 |
CRYBA1 database at LOVD
http://www.LOVD.nl/CRYBA1 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBA4
crystallin, beta A4 123631 |
CRYBA4 database at LOVD
http://www.LOVD.nl/CRYBA4 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB1
crystallin, beta B1 600929 |
CRYBB1 database at LOVD
http://www.LOVD.nl/CRYBB1 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB2
crystallin, beta B2 123620 |
CRYBB2 database at LOVD
http://www.LOVD.nl/CRYBB2 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB3
crystallin, beta B3 123630 |
CRYBB3 database at LOVD
http://www.LOVD.nl/CRYBB3 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGC
crystallin, gamma C 123680 |
CRYGC database at LOVD
http://www.LOVD.nl/CRYGC |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGD
crystallin, gamma D 123690 |
CRYGD database at LOVD
http://www.LOVD.nl/CRYGD |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGS
crystallin, gamma S 123730 |
CRYGS database at LOVD
http://www.LOVD.nl/CRYGS |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CTDP1
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 604927 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
CTSC
cathepsin C 602365 |
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
http://bioinf.uta.fi/CTSCbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CXCR4
chemokine (C-X-C motif) receptor 4 162643 |
CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)
http://bioinf.uta.fi/CXCR4base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYBA
cytochrome b-245, alpha polypeptide 608508 |
CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox
http://bioinf.uta.fi/CYBAbase/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYBB
cytochrome b-245, beta polypeptide 300481 |
CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)
http://bioinf.uta.fi/CYBBbase/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CYP19A1
cytochrome P450, family 19, subfamily A, polypeptide 1 107910 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1A1
cytochrome P450, family 1, subfamily A, polypeptide 1 108330 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1A2
cytochrome P450, family 1, subfamily A, polypeptide 2 124060 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP1B1
cytochrome P450, family 1, subfamily B, polypeptide 1 601771 |
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/ |
Magnus Ingeman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
|
CYP21A2
cytochrome P450, family 21, subfamily A, polypeptide 2 201910 |
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 |
| Go Back To Main Index! | ||
|
D2HGDH
D-2-hydroxyglutarate dehydrogenase 609186 |
D2HGDH database at LOVD
http://www.LOVD.nl/D2HGDH |
Gajja Salomons |
|
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 |
|
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 |
|
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 |
|
DKC1
dyskeratosis congenita 1, dyskerin 300126 |
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
http://bioinf.uta.fi/DKC1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
DMD
dystrophin 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 |
|
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/ |
Jean Christophe Boyer, Nimes, France |
|
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 |
|
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! | ||
|
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 |
|
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 |
|
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 |
|
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 |
|
EP300
E1A binding protein p300 602700 |
EP300 - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/EP300 |
Dorien Peters, Clinical Genetics, LUMC, Leiden |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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. |
|
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 |
|
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 |
|
GCS1
glucosidase I 601336 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
|
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 |
|
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 |
|
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 |
|
GLRA1
glycine receptor, alpha 1 138491 |
GLRA1 database at LOVD
http://www.LOVD.nl/GLRA1 |
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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! | ||
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
HSPD1
heat shock 60kDa protein 1 (chaperonin) 118190 |
Mutations in GroELResidues 1-237
http://biochem.uthscsa.edu/seale/Chap/mut.html |
Jeff Seale |
|
HSPD1
heat shock 60kDa protein 1 (chaperonin) 118190 |
Mutations in GroELResidues 238-518
http://biochem.uthscsa.edu/seale/Chap/mut2.html |
Jeff Seale |
|
HSPE1
heat shock 10kDa protein 1 (chaperonin 10) 600141 |
Mutations in GroES
http://biochem.uthscsa.edu/seale/Chap/esmut.html |
Jeff Seale |
|
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 |
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|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
IRAK4
interleukin-1 receptor-associated kinase 4 606883 |
IRAK4base: Mutation registry for IRAK4 deficiency
http://bioinf.uta.fi/IRAK4base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
ITGB2
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 600065 |
ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
http://bioinf.uta.fi/ITGB2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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|
JAK3
Janus kinase 3 (a protein tyrosine kinase, leukocyte) 600173 |
JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
http://bioinf.uta.fi/JAK3base/ |
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
JUP
junction plakoglobin 173325 |
Gene Connection for the Heart; Naxos disease database
http://www.fsm.it/cardmoc/ |
S.G. N. Protonotarios, Naxos, Greece & C. Napolitano, Pavia, Italy |
|
JUP
junction plakoglobin 173325 |
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 |
| Go Back To Main Index! | ||
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1 176261 |
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1 176261 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
KCNE2
potassium voltage-gated channel, Isk-related family, member 2 603796 |
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
|
KCNE2
potassium voltage-gated channel, Isk-related family, member 2 603796 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
KCNH2
potassium voltage-gated channel, subfamily H (eag-related), member 2 152427 |
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
|
KCNH2
potassium voltage-gated channel, subfamily H (eag-related), member 2 152427 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
KCNJ2
potassium inwardly-rectifying channel, subfamily J, member 2 600681 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1 607542 |
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1 607542 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
KEL
Kell blood group, metallo-endopeptidase 110900 |
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 |
|
KIF1B
kinesin family member 1B 605995 |
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 |
|
KIR2DL1
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 604936 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DL2
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 604937 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DL3
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 604938 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DL4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 604945 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DL5A
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A 605305 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DL5B
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B 605305 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DP1
killer cell immunoglobulin-like receptor, two domains, pseudogene 1 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DS1
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 604952 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DS2
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 604953 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DS3
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 604954 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DS4
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 604955 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR2DS5
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 604956 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR3DL1
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 604946 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR3DL2
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 604947 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR3DL3
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 610095 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR3DP1
killer cell immunoglobulin-like receptor, three domains, pseudogene 1 610604 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
KIR3DS1
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 604946 |
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| Go Back To Main Index! | ||
|
L1CAM
L1 cell adhesion molecule 308840 |
L1CAM Mutation Web Page
http://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/hereditarydiseases/l1cam/index |
Yvonne Vos Department of clinical genetics, University Medical Center Groningen, Groningen , The Netherlands |
|
LAMA2
laminin, alpha 2 156225 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/LAMA2 |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
|
LARGE
like-glycosyltransferase 603590 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/LARGE |
Johan den Dunnen, LUMC, Leiden, Nederland |
|
LDLR
low density lipoprotein receptor 606945 |
Hypercholesterolemia, Familial
http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/ |
Sarah Leigh, Dept. of Medicine, UCL |
|
LDLR
low density lipoprotein receptor 606945 |
UMD Locus Specific Databases
http://www.umd.be/LDLR/ |
M. Varret, C. Boileau, INSERM,Hopital Necker, Enfants Malades,Paris |
|
LEPRE1
leucine proline-enriched proteoglycan (leprecan) 1 610339 |
Database of osteogenesis imperfecta and type III collagen mutations
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
LIG1
ligase I, DNA, ATP-dependent 126391 |
LIG1base: Mutation registry for DNA ligase I deficiency
http://bioinf.uta.fi/LIG1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
LIG4
ligase IV, DNA, ATP-dependent 601837 |
LIG4base: Mutation registry for LIG4 syndrome
http://bioinf.uta.fi/LIG4base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
LITAF
lipopolysaccharide-induced TNF factor 603795 |
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 |
|
LMNA
lamin A/C 150330 |
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 |
|
LMNA
lamin A/C 150330 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/LMNA |
Johan T. den Dunnen Leiden Univ. Medical Centre Leiden, Netherlands |
|
LMNA
lamin A/C 150330 |
The LMNA mutations database
http://www.umd.be/LMNA/ |
G. Bonne, France |
|
LPIN2
lipin 2 605519 |
INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Hatem El-Shanti, Paediatrics, Jordan University of Science and Technology, Amman, Jordan |
|
LRAT
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 604863 |
Mutations of the Lecithin Retinol Acyltransferase Gene
http://www.retina-international.org/sci-news/lratmut.htm |
Retina International |
|
LRRC8A
leucine rich repeat containing 8 family, member A 608360 |
LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia
http://bioinf.uta.fi/LRRC8Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
LRRK2
leucine-rich repeat kinase 2 609007 |
LRRK2 Parkinson's disease Mutation Database
http://www.LOVD.nl/LRRK2 |
The Parkinson's Institute |
|
LYST
lysosomal trafficking regulator 606897 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting Int. Albinism Centre Univ. of Minnesota, U.S.A. |
|
LYST
lysosomal trafficking regulator 606897 |
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
http://bioinf.uta.fi/LYSTbase/index.html |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
LYST
lysosomal trafficking regulator 606897 |
Mutations of the Chediak Higashi Syndrome
http://www.retina-international.org/sci-news/chsmut.htm |
Retina International |
| Go Back To Main Index! | ||
|
MAPT
microtubule-associated protein tau 157140 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/FTDMutations/ |
Marc Cruts and Nathalie Brouwers, Neurogenerative Brain Diseases Group, VIB Department of Molecular Genetics, Flanders Institute for Biotechnology and, University of Antwerp - Campus CDE, Belgium |
|
MASP2
mannan-binding lectin serine peptidase 2 605102 |
MASP2base: Mutation registry for MASP-2 deficiency
http://bioinf.uta.fi/MASP2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
MECP2
methyl CpG binding protein 2 (Rett syndrome) 300005 |
RettBASE
http://mecp2.chw.edu.au/ |
John Christodoulou, Andrew Grimm Children's Hospital, Westmead, Sydney, Australia |
|
MEFV
Mediterranean fever 608107 |
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Isabelle Touitou, Laboratory of Genetics, A de Villeneuve Hospital, Montpellier, France |
|
MEN1
multiple endocrine neoplasia I 131100 |
The UMD MEN1 mutations database
http://www.umd.be/MEN1/ |
Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France |
|
MERTK
c-mer proto-oncogene tyrosine kinase 604705 |
Mutations of the MER Receptor Tyrosine Kinase Gene
http://www.retina-international.org/sci-news/mertkmut.htm |
Retina International |
|
MFN2
mitofusin 2 608507 |
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 |
|
MFSD8
major facilitator superfamily domain containing 8 611124 |
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 |
|
MGAT2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 602616 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
|
MICA
MHC class I polypeptide-related sequence A 600169 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
MICB
MHC class I polypeptide-related sequence B 602436 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
MKKS
McKusick-Kaufman syndrome 604896 |
Mutations of the McKusick-Kaufman Gene
http://www.retina-international.org/sci-news/mkksmut.htm |
Retina International |
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 |
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/ |
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 |
MLH1 database at LOVD
http://www.LOVD.nl/MLH1 |
Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada |
|
MLH3
mutL homolog 3 (E. coli) 604395 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
MLPH
melanophilin 606526 |
MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)
http://bioinf.uta.fi/MLPHbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
MLYCD
malonyl-CoA decarboxylase 606761 |
MLYCD Allelic Variant Database
http://mlycd.hgu.mrc.ac.uk/ |
Graeme Grimes & Isabel Hanson, MRC Human Genetics Unit, Edinburg, UK |
|
MPDU1
mannose-P-dolichol utilization defect 1 604041 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
MPI
mannose phosphate isomerase 154550 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
|
MPO
myeloperoxidase 606989 |
MPObase: Mutation registry for Myeloperoxidase deficiency
http://bioinf.uta.fi/MPObase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
MPZ
myelin protein zero 159440 |
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 |
|
MRE11A
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 600814 |
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
http://bioinf.uta.fi/MRE11Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 |
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/ |
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 |
MSH2 database at LOVD
http://www.LOVD.nl/MSH2 |
Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada |
|
MSH6
mutS homolog 6 (E. coli) 600678 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
MSH6
mutS homolog 6 (E. coli) 600678 |
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/ |
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
|
MSH6
mutS homolog 6 (E. coli) 600678 |
MSH6 database at LOVD
http://www.LOVD.nl/MSH6 |
Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada |
|
MSTN
myostatin 601788 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/MSTN |
Willem Hoogaars & Johan den Dunnen |
|
MT-TS2
mitochondrially encoded tRNA serine 2 (AGU/C) 590085 |
Mutations of the Second Mitochondrial Serine tRNA Gene
http://www.retina-international.org/sci-news/mttsmut.htm |
Retina International |
|
MTM1
myotubularin 1 300415 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/MTM1 |
Jorge Oliveira & Johan den Dunnen |
|
MTMR2
myotubularin related protein 2 603557 |
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 |
|
MUTYH
mutY homolog (E. coli) 604933 |
MUTYH - mutY homolog
http://www.LOVD.nl/MUTYH |
Astrid Out & Carli Tops, LUMC, Leiden, Nederland |
|
MVK
mevalonate kinase 251170 |
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Laurence Cuisset & Hans Waterham, Génétique Développement et Pathologie Moléculaire, Institut Cochin de Génétique Moléculaire, Paris, France |
|
MYBPC3
myosin binding protein C, cardiac 600958 |
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html |
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
|
MYBPC3
myosin binding protein C, cardiac 600958 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/~seidman/cg3/genes/MYBPC3_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School |
|
MYH7
myosin, heavy chain 7, cardiac muscle, beta 160760 |
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html |
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
|
MYH7
myosin, heavy chain 7, cardiac muscle, beta 160760 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/~seidman/cg3/genes/MYH7_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
|
MYH9
myosin, heavy chain 9, non-muscle 160775 |
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 |
|
MYL2
myosin, light chain 2, regulatory, cardiac, slow 160781 |
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html |
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
|
MYL2
myosin, light chain 2, regulatory, cardiac, slow 160781 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/~seidman/cg3/genes/MYL2_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
|
MYL3
myosin, light chain 3, alkali; ventricular, skeletal, slow 160790 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/~seidman/cg3/genes/MYL3_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
|
MYO15A
myosin XVA 602666 |
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 |
|
MYO5A
myosin VA (heavy chain 12, myoxin) 160777 |
MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
http://bioinf.uta.fi/MYO5Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
MYO6
myosin VI 600970 |
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 |
|
MYO7A
myosin VIIA 276903 |
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 |
|
MYO7A
myosin VIIA 276903 |
Mutations of the Myosin VIIa Gene
http://www.retina-international.org/sci-news/myomut.htm |
Retina International |
|
MYO7A
myosin VIIA 276903 |
The UMD MYO7A mutations database
http://www.umd.be/MYO7A/ |
A.-F. Roux and D. Baux |
|
MYOC
myocilin, trabecular meshwork inducible glucocorticoid response 601652 |
Myocilin allele-specific phenotype database
http://www.myocilin.com/ |
Dr Alex Hewitt & A/Prof Jamie Craig, Department of Ophthalmology, Flinders University, Adelaide, Australia. |
|
MYOT
myotilin 604103 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/MYOT |
Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
| Go Back To Main Index! | ||
|
NAGS
N-acetylglutamate synthase 608300 |
NAGS database at LOVD
http://www.LOVD.nl/NAGS |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
NAT1
N-acetyltransferase 1 (arylamine N-acetyltransferase) 108345 |
Arylamine N-Acetyltransferase(Note- Not really a variation database but useful-lists alleles & nomenclature)
http://louisville.edu/medschool/pharmacology/NAT.html |
David W. Hein, Dept Pharmacology & Toxicology Univ. Sch. Med. Louisville, Kentucky USA; Denis M. Grant, The Hospital for Sick Children, Toronto Canada; Edith Sim, Dept Pharmacology Univ. Oxford, UK |
|
NAT2
N-acetyltransferase 2 (arylamine N-acetyltransferase) 612182 |
Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature)
http://louisville.edu/medschool/pharmacology/NAT.html |
David W. Hein, Dept Pharmacology & Toxicology, Univ. Sch. Med. Louisville, Kentucky, USA; Denis M. Grant, The Hospital for Sick Children, Toronto, Canada; Edith Sim, Dept Pharmacology, Univ. Oxford, UK |
|
NCF1
neutrophil cytosolic factor 1 608512 |
NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox
http://bioinf.uta.fi/NCF1base/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
NCF2
neutrophil cytosolic factor 2 608515 |
NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox
http://bioinf.uta.fi/NCF2base/ |
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
NDP
Norrie disease (pseudoglioma) 300658 |
Mutations of the Norrie Disease Gene
http://www.retina-international.org/sci-news/ndgmut.htm |
Retina International |
|
NDRG1
N-myc downstream regulated gene 1 605262 |
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 |
|
NEB
nebulin 161650 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/NEB |
Carina Wallgren-Pettersson, Tom Winder & Johan den Dunnen |
|
NEFL
neurofilament, light polypeptide 162280 |
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 |
|
NF1
neurofibromin 1 162200 |
NF1 @ The Center for Medical Genetics, Ghent University Hospital, Belgium
http://medgen.ugent.be/LOVD/ |
Ophelia Maertens, Centre for Medical Genetics Gent, Belgium |
|
NFKBIA
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 164008 |
NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
http://bioinf.uta.fi/NFKBIAbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
NGF
nerve growth factor (beta polypeptide) 162030 |
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 |
|
NHEJ1
nonhomologous end-joining factor 1 611290 |
NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR
http://bioinf.uta.fi/NHEJ1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
NIPBL
Nipped-B homolog (Drosophila) 608667 |
NIPBL - LOVD
http://www.LOVD.nl/NIPBL |
Jorge Oliveira, Unidade de Genética Molecular, Centro de Genética Médica J. Magalhães - INSA, Porto, Portugal; Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
NLRP3
NLR family, pyrin domain containing 3 606416 |
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Hal Hoffmann, Medicine and Pediatrics, University of California at San Diego, La Jolla,USA |
|
NLRP7
NLR family, pyrin domain containing 7 609661 |
INFEVERS: The repertory of RMHs sequence variants
http://fmf.igh.cnrs.fr/infevers/ |
Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada |
|
NOD2
nucleotide-binding oligomerization domain containing 2 605956 |
Crohn's Disease & Blau Syndrome; INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Jean-pierre Hugot & Suzanne Lesage, INSERM 289, Paris, France |
|
NOTCH3
Notch homolog 3 (Drosophila) 600276 |
NOTCH3 - CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical
http://www.LOVD.nl/NOTCH3 |
Elles Boon, LUMC, Leiden, Nederland |
|
NP
nucleoside phosphorylase 164050 |
NPbase: Mutation registry for PNP deficiency
http://bioinf.uta.fi/NPbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
NR0B1
nuclear receptor subfamily 0, group B, member 1 300473 |
NROB1 - adrenal hypoplasia (DAX1)
http://www.LOVD.nl/NROB1 |
Bert Bakker, LUMC, Leiden, Nederland |
|
NR2E3
nuclear receptor subfamily 2, group E, member 3 604485 |
Mutations of the Photoreceptor cell-specific Nuclear Receptor
http://www.retina-international.org/sci-news/nr2e3mut.htm |
Retina International |
|
NR2E3
nuclear receptor subfamily 2, group E, member 3 604485 |
NR2E3database at LOVD
http://www.LOVD.nl/eye |
Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland |
|
NR3C1
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 138040 |
Glucocorticoid Receptor Resource database
http://nrr.georgetown.edu/GRR/mutation/mutation.html |
S.Stoney Simons, Mark Danielsen, Georgetown Univ. Georgetown, USA |
|
NRL
neural retina leucine zipper 162080 |
Mutations of the Neuroretina-linked Leucine Zipper Gene
http://www.retina-international.org/sci-news/nrlmut.htm |
Retina International |
|
NSD1
nuclear receptor binding SET domain protein 1 606681 |
NSD1 at LOVD
http://www.LOVD.nl/NSD1 |
Janneke Weiss, LUMC, Leiden, Netherlands |
|
NTRK1
neurotrophic tyrosine kinase, receptor, type 1 191315 |
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 |
|
NYX
nyctalopin 300278 |
Mutations of Nyctalopin
http://www.retina-international.org/sci-news/nyxmut.htm |
Retina International |
| Go Back To Main Index! | ||
|
OCA2
oculocutaneous albinism II 611409 |
Mutations of the P-Gene
http://www.retina-international.org/sci-news/pgenemut.htm |
Retina International |
|
OCA2
oculocutaneous albinism II 611409 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
|
OCRL
oculocerebrorenal syndrome of Lowe 300535 |
Database of the OCRL1 Mutations Causing Lowe Syndrome
http://research.nhgri.nih.gov/lowe/ |
Robert L. Nussbaum, Sharon F. Suchy, Ti Lin, Genetic Disease Research Branch, NHGRI/NIH Bethesda, USA |
|
OPA1
optic atrophy 1 (autosomal dominant) 605290 |
Mutations of the Optic Atrophy 1 Gene
http://www.retina-international.org/sci-news/opa1mut.htm |
Retina International |
|
OPA1
optic atrophy 1 (autosomal dominant) 605290 |
eOPA1
http://lbbma.univ-angers.fr/eOPA1/ |
Patrizia Bonneau, CHU Angers - Inserm, Departement de Biochimie et Genetique, France |
|
OPN1LW
opsin 1 (cone pigments), long-wave-sensitive 303900 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/sci-news/cppmut.htm |
Retina International |
|
OPN1MW
opsin 1 (cone pigments), medium-wave-sensitive 303800 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/sci-news/cppmut.htm |
Retina International |
|
OPN1SW
opsin 1 (cone pigments), short-wave-sensitive 190900 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/sci-news/cppmut.htm |
Retina International |
|
OTC
ornithine carbamoyltransferase 300461 |
Ornithine Transcarbamylase Deficiency Website
http://ureacycle.cnmcresearch.org/otc/ |
Hiroki Morizono, Mendel Tuchman, Children's National Medical Center, Washington DC, USA |
|
OTC
ornithine carbamoyltransferase 300461 |
OTC - Ornithine transcarbamylase deficiency
http://www.LOVD.nl/OTC |
Bert Bakker, LUMC, Leiden, Nederland |
|
OTOF
otoferlin 603681 |
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! | ||
|
PAH
phenylalanine hydroxylase 612349 |
Phenylalanine Hydroxylase Locus Knowledgebase
http://www.pahdb.mcgill.ca |
Charles R. Scriver, Lynne Prevost, Mélanie Hurtubise & David Konecki, PAH Mutation Analysis Consortium, McGill University, Montreal, Canada |
|
PALB2
partner and localizer of BRCA2 610355 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen Auerbach, Rockefeller University, New York, USA |
|
PARK2
Parkinson disease (autosomal recessive, juvenile) 2, parkin 602544 |
PARK2 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK2 |
The Parkinson's Institute |
|
PARK7
Parkinson disease (autosomal recessive, early onset) 7 602533 |
PARK7 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK7 |
The Parkinson's Institute |
|
PAX2
paired box gene 2 167409 |
PAX2 Mutation Database
http://pax2.hgu.mrc.ac.uk/ |
Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK |
|
PAX6
paired box 6 607108 |
PAX6 Mutation Database-Aniridia Type II
http://pax6.hgu.mrc.ac.uk/ |
Graeme Grimes & Isabel Hanson MRC, Human Genetics Unit Edinburgh, UK |
|
PCBD1
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 126090 |
Pterin-4a-carbionolaminedehydratase deficiency-BIOMED database
http://www.bh4.org/ |
N. Blau, Univ.Children's Hospital, Zurich J.L. Dhont, Facultélibre de Médicine, Lille, I.Dianzani, Univ.Torino, Torino, Italy |
|
PCCA
propionyl Coenzyme A carboxylase, alpha polypeptide 232000 |
Propionyl CoA Carboxylase Page
http://www.uchsc.edu/cbs/pcc/pccmain.htm |
Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA, Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep. |
|
PCCB
propionyl Coenzyme A carboxylase, beta polypeptide 232050 |
Propionyl CoA Carboxylase Page
http://www.uchsc.edu/cbs/pcc/pccmain.htm |
Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA, Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep. |
|
PCDH15
protocadherin 15 605514 |
Mutations of the Protocadherin 15 Gene
http://www.retina-international.org/sci-news/pcdhmut.htm |
Retina International |
|
PCDH15
protocadherin 15 605514 |
The UMD PCDH15 mutations database
http://www.umd.be/PCDH15/ |
A.-F. Roux and D. Baux |
|
PDC
phosducin 171490 |
Mutations of the Phosducin Gene
http://www.retina-international.org/sci-news/pdcmut.htm |
Retina International |
|
PDE6A
phosphodiesterase 6A, cGMP-specific, rod, alpha 180071 |
Mutations of the Phosphodiesterase type 6
http://www.retina-international.org/sci-news/pdemut.htm |
Retina International |
|
PEX1
peroxisome biogenesis factor 1 602136 |
dbPEX, PEX1 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX10
peroxisome biogenesis factor 10 602859 |
dbPEX, PEX10 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX12
peroxisomal biogenesis factor 12 601758 |
dbPEX, PEX12 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX13
peroxisome biogenesis factor 13 601789 |
dbPEX, PEX13 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX14
peroxisomal biogenesis factor 14 601791 |
dbPEX, PEX14 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX16
peroxisomal biogenesis factor 16 603360 |
dbPEX, PEX16 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX19
peroxisomal biogenesis factor 19 600279 |
dbPEX, PEX19 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX26
peroxisome biogenesis factor 26 608666 |
dbPEX, PEX26 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX3
peroxisomal biogenesis factor 3 603164 |
dbPEX, PEX3 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX5
peroxisomal biogenesis factor 5 600414 |
dbPEX, PEX5 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX6
peroxisomal biogenesis factor 6 601498 |
dbPEX, PEX6 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PEX7
peroxisomal biogenesis factor 7 601757 |
dbPEX, PEX7 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
|
PHEX
phosphate regulating endopeptidase homolog, X-linked 300550 |
PHEXdb Locus Database
http://www.phexdb.mcgill.ca |
Y. Sabbagh, A. O. Jones, H. S. Tenenhouse, Manyphong Phommarinh, McGill University , Canada, Montreal |
|
PINK1
PTEN induced putative kinase 1 608309 |
PINK1 Parkinson's disease Mutation Database
http://www.LOVD.nl/PINK1 |
The Parkinson's Institute |
|
PKHD1
polycystic kidney and hepatic disease 1 (autosomal recessive) 606702 |
Autosomal Recessive Polycystic Kidney Disease
http://www.humgen.rwth-aachen.de/ |
Carsten Bergmann, Klaus Zerres, Dept. of Human Genetics, Aachen University, Aachen Germany |
|
PKP2
plakophilin 2 602861 |
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 |
|
PMM2
phosphomannomutase 2 601785 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
PMP22
peripheral myelin protein 22 601097 |
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 |
|
PMS1
PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 600258 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
PMS2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 600259 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
|
PMS2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 600259 |
PMS2 database at LOVD
http://www.LOVD.nl/PMS2 |
Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada |
|
POMGNT1
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 606822 |
POMGNT1 @ LOVD
http://www.DMD.nl/POMGNT1 |
Rosário dos Santos & Johan den Dunnen |
|
POMT1
protein-O-mannosyltransferase 1 607423 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/POMT1 |
Rosário dos Santos & Johan den Dunnen |
|
POMT2
protein-O-mannosyltransferase 2 607439 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/POMT2 |
Rosário dos Santos & Johan den Dunnen |
|
POR
P450 (cytochrome) oxidoreductase 124015 |
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 |
|
POU3F4
POU class 3 homeobox 4 300039 |
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 |
|
POU4F3
POU class 4 homeobox 3 602460 |
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 |
|
PPT1
palmitoyl-protein thioesterase 1 600722 |
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 |
|
PPT1
palmitoyl-protein thioesterase 1 600722 |
Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
http://www.retina-international.org/sci-news/pptmut.htm |
Retina International |
|
PRF1
perforin 1 (pore forming protein) 170280 |
PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)
http://bioinf.uta.fi/PRF1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
PRKCG
protein kinase C, gamma 176980 |
Mutations of the Protein Kinase C γ
http://www.retina-international.org/sci-news/prkcgmut.htm |
Retina International |
|
PRNP
prion protein 176640 |
Prion Protein/CJD database
http://www.mad-cow.org/~tom/prion_point_mutations.html |
Sperling Biomedical Foundation, Oregon, U.S.A. |
|
PROM1
prominin 1 604365 |
Mutations of the Prominin (mouse)-like 1 gene (PROML1)
http://www.retina-international.org/sci-news/promlmut.htm |
Retina International |
|
PROS1
protein S (alpha) 176880 |
Protein S Deficiency: A database of Mutations
http://www.med.unc.edu/isth/ |
S. Gandrille, INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, 4 Avenue de l'Observatoire, 75006 Paris, FRANCE |
|
Protein Kinase
multiple protein kinase domains |
KinMutBase: A registry of disease-causing mutations in protein kinase domains
http://bioinf.uta.fi/KinMutBase/ |
Mauno Vihinen, Kaj Stenberg, Univ. of Tampere, Tampere, Finland |
|
PRPF31
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 606419 |
Mutations of the RNA Processing Factor 31
http://www.retina-international.org/sci-news/prp31mut.htm |
Retina International |
|
PRPF8
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 607300 |
Mutations of the Precursor mRNA Processing Protein 8
http://www.retina-international.org/sci-news/prpc8mut.htm |
Retina International |
|
PRPH2
peripherin 2 (retinal degeneration, slow) 179605 |
Mutations of the RDS/Peripherin Gene
http://www.retina-international.org/sci-news/rdsmut.htm |
Retina International |
|
PRSS1
protease, serine, 1 (trypsin 1) 276000 |
Database of genetic variants in patients with chronic pancreatitis
http://www.uni-leipzig.de/pancreasmutation/ |
Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany |
|
PRX
periaxin 605725 |
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 |
|
PSEN1
presenilin 1 104311 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/ |
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
PSEN2
presenilin 2 (Alzheimer disease 4) 600759 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/ |
Marc Cruts & Nathalie Brouwers, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
|
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1 606347 |
PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/ |
Carol Wise, Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children,Dallas, USA |
|
PTCH1
patched homolog 1 (Drosophila) 601309 |
PTCH Mutation Database
http://www.cybergene.se/cgi-bin/w3-msql/ptchbase/index.html |
Rune Toftgard, Karolinska Institut, Sweden Georgia Chenevix-Trench, QIMR, Brisbane, Australia Mike Dean, National Cancer Institute, Maryland, U.S.A. |
|
PTGIS
prostaglandin I2 (prostacyclin) synthase 601699 |
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 |
|
PTPRC
protein tyrosine phosphatase, receptor type, C 151460 |
PTPRCbase: Mutation registry for CD45 deficiency
http://bioinf.uta.fi/PTPRCbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
PTS
6-pyruvoyltetrahydropterin synthase 261640 |
6-Pyruvoyl-tetrahydropterinsynthase deficiency-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 |
|
PXMP3
peroxisomal membrane protein 3, 35kDa 170993 |
dbPEX, PEX2 Gene Database
http://www.dbpex.org/ |
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| Go Back To Main Index! | ||
|
QDPR
quinoid dihydropteridine reductase 261630 |
Quinoid Dihydropteridinereductase deficiency- 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 |
| Go Back To Main Index! | ||
|
RAB27A
RAB27A, member RAS oncogene family 603868 |
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
http://bioinf.uta.fi/RAB27Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
RAB27A
RAB27A, member RAS oncogene family 603868 |
Mutations of the Small Nucleotide-binding Protein 27a Gene
http://www.retina-international.org/sci-news/rab27mut.htm |
Retina International |
|
RAB7A
RAB7A, member RAS oncogene family 602298 |
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 |
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RAC2
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 602049 |
RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
http://bioinf.uta.fi/RAC2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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RAG1
recombination activating gene 1 179615 |
RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
http://bioinf.uta.fi/RAG1base/ |
Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland |
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RAG2
recombination activating gene 2 179616 |
RAG2base: Mutation registry for autosomal recessive RAG2 deficiency
http://bioinf.uta.fi/RAG2base/ |
Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland |
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RB1
retinoblastoma 1 180200 |
RB1 @ Universitat Duisburg-Essen
http://132.252.149.74/LOVD/ |
Dietmar R. Lohmann, Universitat Duisburg-Essen, Germany |
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RDH5
retinol dehydrogenase 5 (11-cis/9-cis) 601617 |
Mutations of the 11-cis Retinol Dehydrogenase Gene
http://www.retina-international.org/sci-news/rdhmut.htm |
Retina International |
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RET
ret proto-oncogene 164761 |
Multiple Endocrine Neoplasia type 2 (MEN2) RET database
http://www.arup.utah.edu/database/MEN2/MEN2_welcome.php |
Dr. Rebecca Margraf and Dr. Rong Mao, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
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RFX5
regulatory factor X, 5 (influences HLA class II expression) 601863 |
RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency
http://bioinf.uta.fi/RFX5base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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RFXANK
regulatory factor X-associated ankyrin-containing protein 603200 |
RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency
http://bioinf.uta.fi/RFXANKbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
RFXAP
regulatory factor X-associated protein 601861 |
RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency
http://bioinf.uta.fi/RFXAPbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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RGR
retinal G protein coupled receptor 600342 |
Mutations of the RPE-Retinal G-Protein-Coupled Receptor
http://www.retina-international.org/sci-news/rgrmut.htm |
Retina International |
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RHAG
Rh-associated glycoprotein 180297 |
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 |
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RHCE
Rh blood group, CcEe antigens 111700 |
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 |
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RHD
Rh blood group, D antigen 111680 |
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 |
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RHO
rhodopsin 180380 |
Mutations of the Rhodopsin Gene
http://www.retina-international.org/sci-news/rhomut.htm |
Retina International |
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RNF135
ring finger protein 135 611358 |
RNF135 at LOVD
http://www.LOVD.nl/RNF135 |
Monique Losekoot, LUMC, Leiden, Netherlands |
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ROM1
retinal outer segment membrane protein 1 180721 |
Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene
http://www.retina-international.org/sci-news/rommut.htm |
Retina International |
|
ROR2
receptor tyrosine kinase-like orphan receptor 2 602337 |
ROR2 database at LOVD
http://www.LOVD.nl/ROR2 |
Jacopo Celli, LUMC, The Netherlands |
|
RP1
retinitis pigmentosa 1 (autosomal dominant) 603937 |
Mutations of the RP1 Gene
http://www.retina-international.org/sci-news/rp1mut.htm |
Retina International |
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RP2
retinitis pigmentosa 2 (X-linked recessive) 312600 |
Mutations of the RP2 Gene
http://www.retina-international.org/sci-news/rp2mut.htm |
Retina International |
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RPE65
retinal pigment epithelium-specific protein 65kDa 180069 |
Mutations of the RPE65 Gene
http://www.retina-international.org/sci-news/rpe65mut.htm |
Retina International |
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RPGR
retinitis pigmentosa GTPase regulator 312610 |
Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene
http://www.retina-international.org/sci-news/rpgrmut.htm |
Retina International |
|
RPGR
retinitis pigmentosa GTPase regulator 312610 |
RPGR @ The Human Genetics Unit Edinburgh U.K.
http://rpgr.hgu.mrc.ac.uk/ |
Xinhua Shu and Alan Wright |
|
RPGRIP1
retinitis pigmentosa GTPase regulator interacting protein 1 605446 |
Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene
http://www.retina-international.org/sci-news/rpgripmu.htm |
Retina International |
|
RPS6KA3
ribosomal protein S6 kinase, 90kDa, polypeptide 3 300075 |
Coffin-Lowry Syndrome
http://alsace.u-strasbg.fr/chimbio/diag/coffin/index.html |
University of Strasbourg, France |
|
RS1
retinoschisin 1 312700 |
X-Linked Juvenile Retinoschisis
http://www.LOVD.nl/RS1 |
Markus Preising & Johan den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
|
RS1
retinoschisin 1 312700 |
Mutations of the X-linked Retinoschisis Gene
http://www.retina-international.org/sci-news/xlrsmut.htm |
Retina International |
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RYR2
ryanodine receptor 2 (cardiac) 180902 |
Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia
http://www.fsm.it/cardmoc/ |
C. Napolitano, Luciana deGiuli and Andrea Zuanetti, Pavia, Italy |
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SACS
spastic ataxia of Charlevoix-Saguenay (sacsin) 604490 |
SACSIN- Related autosomal recessive ataxia
http://www.medgen.mcgill.ca/SACSIN |
Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada |
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SAG
S-antigen; retina and pineal gland (arrestin) 181031 |
Mutations of the Arrestin Gene
http://www.retina-international.org/sci-news/sagmut.htm |
Retina International |
|
SBDS
Shwachman-Bodian-Diamond syndrome 607444 |
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
http://bioinf.uta.fi/SBDSbase/ |
László Maródi and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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SBF2
SET binding factor 2 607697 |
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 |
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SCN4A
sodium channel, voltage-gated, type IV, alpha subunit 603967 |
SCN4A at LOVD
http://www.LOVD.nl/SCN4A |
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
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SCN5A
sodium channel, voltage-gated, type V, alpha subunit 600163 |
Long QT Syndrome mutation database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
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SCN5A
sodium channel, voltage-gated, type V, alpha subunit 600163 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
P. Brugada, Alalst, Belgium; J. Brugada, Banyoles, Spain; R. Brugada, Houston, Texas, U.S.A.; A.A.M. Wilde Amsterdam, The Netherlands |
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SDHA
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 600857 |
SDHA at LOVD
http://www.LOVD.nl/SDHA |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
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SDHB
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 185470 |
SDHB at LOVD
http://www.LOVD.nl/SDHB |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SDHC
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 602413 |
SDHC at LOVD
http://www.LOVD.nl/SDHC |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SDHD
succinate dehydrogenase complex, subunit D, integral membrane protein 602690 |
SDHD at LOVD
http://www.LOVD.nl/SDHD |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
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SEPN1
selenoprotein N, 1 606210 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SEPN1 |
Johan den Dunnen, Tom Winder |
|
SEPT9
septin 9 604061 |
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 |
|
SERPINC1
serpin peptidase inhibitor, clade C (antithrombin), member 1 107300 |
Antithrombin III mutation database
http://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/ |
David A. Lane, Imperial college, Sch. of Med., London, U.K. |
|
SERPING1
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 606860 |
SERPING1base: Mutation registry for Hereditary angioedema
http://bioinf.uta.fi/SERPING1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SETX
senataxin 608465 |
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 |
|
SGCA
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 600119 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCA |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
|
SGCB
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 600900 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCB |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
|
SGCD
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 601411 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCD |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
|
SGCE
sarcoglycan, epsilon 604149 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCE |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
|
SGCG
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 608896 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCG |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
|
SGCZ
sarcoglycan zeta 608113 |
Leiden Muscular Dystrophy Pages
http://www.DMD.nl/SGCZ |
Johan den Dunnen, LUMC, Leiden, Netherlands |
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SH2D1A
SH2 domain protein 1A 300490 |
SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
http://bioinf.uta.fi/SH2D1Abase/ |
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SH3TC2
SH3 domain and tetratricopeptide repeats 2 608206 |
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 |
|
SHOX
short stature homeobox 312865 |
SHOX database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=SHOX |
Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold |
|
SLC12A6
solute carrier family 12 (potassium/chloride transporters), member 6 604878 |
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 |
|
SLC14A1
solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 111000 |
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 |
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SLC22A5
solute carrier family 22 (organic cation/carnitine transporter), member 5 603377 |
Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database
http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php |
Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
|
SLC25A13
solute carrier family 25, member 13 (citrin) 603859 |
SLC25A13
http://www.LOVD.nl/SLC25A13 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SLC25A15
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 603861 |
SLC25A15 database at LOVD
http://www.LOVD.nl/SLC25A15 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SLC26A4
solute carrier family 26, member 4 605646 |
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 |
|
SLC35C1
solute carrier family 35, member C1 605881 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs Center for Human Genetics Leuven, Belgium |
|
SLC35C1
solute carrier family 35, member C1 605881 |
SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)
http://bioinf.uta.fi/SLC35C1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SLC45A2
solute carrier family 45, member 2 606202 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
|
SLC45A2
solute carrier family 45, member 2 606202 |
Mutations of the Membrane-associated Transport Protein Gene (MATP)
http://www.retina-international.org/sci-news/matpmut.htm |
Retina International |
|
SLC4A1
solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) 109270 |
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 |
|
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 606622 |
SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
http://bioinf.uta.fi/SMARCAL1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SMN1
survival of motor neuron 1, telomeric 600354 |
SMN1 - Spinal Muscular Atrophy (SMA)
http://www.DMD.nl/SMN1 |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
SNCA
synuclein, alpha (non A4 component of amyloid precursor) 163890 |
Alpha - Synuclein Locus Mutation Database
http://www.med.upatras.gr/athanassiadou/snca_lsdb.pdf |
Aglaia Athanassiadou, Spyridon Papapetropoulos, Gerassimos Karousos, Univ. of Patras,Greece Mihael Polymeropoulos, Novartis Pharmaceuticals, Gaithersburg,USA |
|
SNCA
synuclein, alpha (non A4 component of amyloid precursor) 163890 |
SNCA Parkinson's disease Mutation Database
http://www.LOVD.nl/SNCA |
The Parkinson's Institute |
|
SOD1
superoxide dismutase 1, soluble 147450 |
alsod.orgAn online database for ALS/SOD1 genetic mutations
http://www.alsod.org |
ALS/SOD1 consortium |
|
SOX10
SRY (sex determining region Y)-box 10 602229 |
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 |
|
SP110
SP110 nuclear body protein 604457 |
SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)
http://bioinf.uta.fi/SP110base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SPINK1
serine peptidase inhibitor, Kazal type 1 167790 |
Database of genetic variants in patients with chronic pancreatitis
http://www.uni-leipzig.de/pancreasmutation/ |
Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany |
|
SPINK5
serine peptidase inhibitor, Kazal type 5 605010 |
SPINK5base: Mutation registry for Netherton syndrome
http://bioinf.uta.fi/SPINK5base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SPTLC1
serine palmitoyltransferase, long chain base subunit 1 605712 |
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 |
|
STAT1
signal transducer and activator of transcription 1, 91kDa 600555 |
STAT1base: Mutation registry for STAT1 deficiency
http://bioinf.uta.fi/STAT1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
STAT5B
signal transducer and activator of transcription 5B 604260 |
STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency
http://bioinf.uta.fi/STAT5Bbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
STAT5B
signal transducer and activator of transcription 5B 604260 |
LOVD growth
http://www.LOVD.nl/STAT5B |
R Rosenfeld and V Hwa |
|
STX11
syntaxin 11 605014 |
STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4) | |