HGNC GENE SYMBOL
OMIM NO.
|
DATABASE NAME
INTERNET ADDRESS |
CURATORS
|
|
Go Back To Main Index!
|
ABCA12
ATP-binding cassette, sub-family A (ABC1), member 12
607800
|
Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis
http://www.derm-hokudai.jp/ABCA12/
|
Masashi Akiyama and Kaori Sakai
|
ABCA13
ATP-binding cassette, sub-family A (ABC1), member 13
607807
|
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/ABCA13
|
Johan T. den Dunnen and Ben Pickard
|
ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4
601691
|
Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/sci-news/abcrmut.htm
|
Retina International
|
ABCB11
ATP-binding cassette, sub-family B (MDR/TAP), member 11
603201
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ABCB11
|
Ammar Husami
|
ABCB4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
171060
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ABCB4
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
ABCB7
ATP-binding cassette, sub-family B (MDR/TAP), member 7
300135
|
ABCB7 database at LOVD
http://www.LOVD.nl/ABCB7
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
603234
|
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
http://www.retina-international.org/sci-news/abcc6mut.htm
|
Retina International
|
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
603234
|
LOVD at NCBI
http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6
|
Sharon Terry and Tim Hefferon
|
ABCD1
ATP-binding cassette, sub-family D (ALD), member 1
300371
|
X-linked Adrenoleukodystrophy Database
http://www.x-ald.nl
|
Hugo W. Moser
Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA.
Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr.
Amsterdam, The Netherlands.
|
ABO
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
110300
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A
|
ACAD8
acyl-CoA dehydrogenase family, member 8
604773
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=ACAD8
|
Steafnie Kalb
|
ACADM
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
607008
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ACADM
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
ACADSB
acyl-CoA dehydrogenase, short/branched chain
600301
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=ACADSB
|
Stefanie Kalb
|
ACADVL
acyl-CoA dehydrogenase, very long chain
609575
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ACADVL
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
ACE2
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
300335
|
ACE2 database at LOVD
http://www.LOVD.nl/ACE2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ACHE
acetylcholinesterase (Yt blood group)
100740
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
ACOT9
acyl-CoA thioesterase 9
|
ACOT9 database at LOVD
http://www.LOVD.nl/ACOT9
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ACSL4
acyl-CoA synthetase long-chain family member 4
300157
|
ACSL4 database at LOVD
http://www.LOVD.nl/ACSL4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ACTA1
actin, alpha 1, skeletal muscle
102610
|
Laing Laboratory Skeletal muscle alpha-actin (ACTA1)
http://acta1.waimr.uwa.edu.au/home.php?select_db=ACTA1
|
Nigel Laing and Kristen Nowak
|
ACTA1
actin, alpha 1, skeletal muscle
102610
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ACTA1
|
Kristen Nowak and Nigel Laing
|
ACTC1
actin, alpha, cardiac muscle 1
102540
|
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html
|
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia
|
ACTC1
actin, alpha, cardiac muscle 1
102540
|
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/%7Eseidman/cg3/genes/ACTC_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School.
|
ACTRT1
actin-related protein T1
300487
|
ACTRT1 database at LOVD
http://www.LOVD.nl/ACTRT1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ACVRL1
activin A receptor type II-like 1
601284
|
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.hhtmutation.org/
|
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK
|
ADA
adenosine deaminase
608958
|
ADAbase: Mutation registry for Adenosine Deaminase Deficiency
http://bioinf.uta.fi/ADAbase/
|
Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland
|
ADSL
adenylosuccinate lyase
608222
|
Adenylosuccinate Lyase Mutations Database Home Page
http://www.icp.ucl.ac.be/adsldb/
|
Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium
|
AFF2
AF4/FMR2 family, member 2
309548
|
AFF2 database at LOVD
http://www.LOVD.nl/AFF2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AGRN
agrin
103320
|
AGRN - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/AGRN
|
ddunnen@LUMC.nl, tom.winder@preventiongenetics.com
|
AGTR2
angiotensin II receptor, type 2
300034
|
AGTR2 database at LOVD
http://www.LOVD.nl/AGTR2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AICDA
activation-induced cytidine deaminase
605257
|
AICDA base: Mutation registry for Aid deficiency
http://bioinf.uta.fi/AICDAbase/
|
Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland
|
AIFM1
apoptosis-inducing factor, mitochondrion-associated, 1
300169
|
AIFM1 database at LOVD
http://www.LOVD.nl/AIFM1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AIPL1
aryl hydrocarbon receptor interacting protein-like 1
604392
|
Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1
http://www.retina-international.org/sci-news/aipl1mut.htm
|
Retina International
|
AIRE
autoimmune regulator
607358
|
AIREbase: Mutation registry for APECED
http://bioinf.uta.fi/AIREbase/
|
Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland
|
AKAP14
A kinase (PRKA) anchor protein 14
300462
|
AKAP14 database at LOVD
http://www.LOVD.nl/AKAP14
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AKAP4
A kinase (PRKA) anchor protein 4
300185
|
AKAP4 database at LOVD
http://www.LOVD.nl/AKAP4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9
604001
|
Zhejiang University-Adinovo Center AKAP9 Database
http://www.china-hvp.org/LOVD/?select_db=AKAP9
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
ALB
albumin
103600
|
Albumin mutation database
http://www.albumin.org/
|
Prof. Ulrich Kragh-Hansen, University of Aarhus, Aarhus, Denmark, and Dr. Theodore Peters, Jr., Bassett Healthcare, Cooperstown, NY, USA
|
ALDH1A1
aldehyde dehydrogenase 1 family, member A1
100640
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou,
Agi Pappa,
Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH2
aldehyde dehydrogenase 2 family (mitochondrial)
100650
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH3A1
aldehyde dehydrogenase 3 family, member A1
100660
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org/
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH4A1
aldehyde dehydrogenase 4 family, member A1
606811
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org/
|
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDH5A1
aldehyde dehydrogenase 5 family, member A1
610045
|
Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database
http://www.lovd.nl/ALDH5A1
|
Gajja Salomons
|
ALDH7A1
aldehyde dehydrogenase 7 family, member A1
107323
|
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND
http://www.bh4.org/
|
Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation
|
ALDH9A1
aldehyde dehydrogenase 9 family, member A1
602733
|
Human Polymorphisms of ALDH Genes
http://www.aldh.org
|
Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A.
|
ALDOB
aldolase B, fructose-bisphosphate
229600
|
Hereditary Fructose Intolerance/Aldolase
http://www.bu.edu/aldolase/
|
Dean R. Tolan, Boston Univ., U.S.A.
|
ALG1
asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
605907
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs Center for Human Genetics Leuven, Belgium
|
ALG12
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
607144
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG13
asparagine-linked glycosylation 13 homolog (S. cerevisiae)
300776
|
ALG13 database at LOVD
http://www.LOVD.nl/ALG13
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ALG2
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)
607905
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG3
asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)
608750
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG6
asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
604566
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG8
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
608103
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALG9
asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)
606941
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
ALOX5AP
arachidonate 5-lipoxygenase-activating protein
603700
|
arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database
http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP
|
Belinda Giardine and Joseph Borg
|
ALPL
alkaline phosphatase, liver/bone/kidney
171760
|
Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
http://www.sesep.uvsq.fr/Database.html
|
Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France
|
AMELX
amelogenin, X-linked
300391
|
AMELX database at LOVD
http://www.LOVD.nl/AMELX
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AMMECR1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
300195
|
AMMECR1 database at LOVD
http://www.LOVD.nl/AMMECR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AMOT
angiomotin
300410
|
AMOT database at LOVD
http://www.LOVD.nl/AMOT
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ANK2
ankyrin 2, neuronal
106410
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
ANK2
ankyrin 2, neuronal
106410
|
Zhejiang University-Adinovo Center ANK2 Database
http://www.china-hvp.org/LOVD/?select_db=ANK2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
ANO5
anoctamin 5
608662
|
ANO5 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ANO5
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
ANO5
anoctamin 5
608662
|
ANO5 LOVD - Leiden Open Variation Database
http://www.medgen.mcgill.ca/ANO5/home.php?select_db=ANO5
|
Véronique Bolduc
|
AP1S2
adaptor-related protein complex 1, sigma 2 subunit
300629
|
AP1S2 database at LOVD
http://www.LOVD.nl/AP1S2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting
Int. Albinism Centre Univ. of Minnesota, U.S.A.
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
http://bioinf.uta.fi/AP3B1base/
|
Mauno Vihinen, Univ. of Tampere, Finland
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit
603401
|
Mutations of the Adaptin b3a Gene
http://www.retina-international.org/sci-news/adtb3mut.htm
|
Retina International
|
APC
adenomatous polyposis coli
611731
|
The UMD APC mutations database
http://www.umd.be/APC/
|
Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique,
Montpellier, France
Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris
|
APC
adenomatous polyposis coli
611731
|
APC-Database
http://www.LOVD.nl/APC
|
Dr. Stefan Aretz and Dr. Waltraut Friedl
|
APC
adenomatous polyposis coli
611731
|
Zhejiang University-Adinovo Center APC Database
http://china-hvp.org/LOVD/?select_db=APC
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao
|
APC
adenomatous polyposis coli
611731
|
The APC Mutation Database
http://fap.taenzer.me
|
Dr. Stefan Aretz and Dr. Waltraut Friedl
|
APEX2
APEX nuclease (apurinic/apyrimidinic endonuclease) 2
300773
|
APEX2 database at LOVD
http://www.LOVD.nl/APEX2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
APLN
apelin
300297
|
APLN database at LOVD
http://www.LOVD.nl/APLN
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
APOO
apolipoprotein O
300753
|
APOO database at LOVD
http://www.LOVD.nl/APOO
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
APOOL
apolipoprotein O-like
|
APOOL database at LOVD
http://www.LOVD.nl/APOOL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
APP
amyloid beta (A4) precursor protein
104760
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
AQP1
aquaporin 1 (Colton blood group)
107776
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A
|
AQP2
aquaporin 2 (collecting duct)
107777
|
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/
|
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
|
AQP9
aquaporin 9
602914
|
Aquaporin 9 (AQP9) database
http://lovd.bx.psu.edu/home.php?select_db=AQP9
|
Belinda Giardine and Joseph Borg
|
AR
androgen receptor
313700
|
Androgen Receptor
http://androgendb.mcgill.ca/
|
Bruce Gottlieb
L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada
|
AR
androgen receptor
313700
|
AR database at LOVD
http://www.LOVD.nl/AR
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARAF
v-raf murine sarcoma 3611 viral oncogene homolog
311010
|
ARAF database at LOVD
http://www.LOVD.nl/ARAF
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARG1
arginase, liver
608313
|
ARG1database at LOVD
http://www.LOVD.nl/ARG1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARG2
arginase, type II
107830
|
Arginase, type II (ARG2) database
http://lovd.bx.psu.edu/home.php?select_db=ARG2
|
Belinda Giardine and Joseph Borg
|
ARHGAP4
Rho GTPase activating protein 4
300023
|
ARHGAP4 database at LOVD
http://www.LOVD.nl/ARHGAP4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARHGAP6
Rho GTPase activating protein 6
300118
|
ARHGAP6 database at LOVD
http://www.LOVD.nl/ARHGAP6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARHGEF10
Rho guanine nucleotide exchange factor (GEF) 10
608136
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
300267
|
ARHGEF6 database at LOVD
http://www.LOVD.nl/ARHGEF6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX1
armadillo repeat containing, X-linked 1
300362
|
ARMCX1 database at LOVD
http://www.LOVD.nl/ARMCX1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX2
armadillo repeat containing, X-linked 2
300363
|
ARMCX2 database at LOVD
http://www.LOVD.nl/ARMCX2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX3
armadillo repeat containing, X-linked 3
300364
|
ARMCX3 database at LOVD
http://www.LOVD.nl/ARMCX3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX4
armadillo repeat containing, X-linked 4
|
ARMCX4 database at LOVD
http://www.LOVD.nl/ARMCX4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX5
armadillo repeat containing, X-linked 5
|
ARMCX5 database at LOVD
http://www.LOVD.nl/ARMCX5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARMCX6
armadillo repeat containing, X-linked 6
|
ARMCX6 database at LOVD
http://www.LOVD.nl/ARMCX6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARSD
arylsulfatase D
300002
|
ARSD database at LOVD
http://www.LOVD.nl/ARSD
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARSE
arylsulfatase E (chondrodysplasia punctata 1)
300180
|
ARSE database at LOVD
http://www.LOVD.nl/ARSE
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARSF
arylsulfatase F
300003
|
ARSF database at LOVD
http://www.LOVD.nl/ARSF
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ART4
ADP-ribosyltransferase 4 (Dombrock blood group)
110600
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
ASB11
ankyrin repeat and SOCS box-containing 11
300626
|
ASB11 database at LOVD
http://www.LOVD.nl/ASB11
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASB12
ankyrin repeat and SOCS box-containing 12
|
ASB12 database at LOVD
http://www.LOVD.nl/ASB12
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASB9
ankyrin repeat and SOCS box-containing 9
|
ASB9 database at LOVD
http://www.LOVD.nl/ASB9
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASL
argininosuccinate lyase
608310
|
ASL database at LOVD
http://www.LOVD.nl/ASL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASMT
acetylserotonin O-methyltransferase
402500
|
ASMT database at LOVD
http://www.LOVD.nl/ASMT
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASMTL
acetylserotonin O-methyltransferase-like
400011
|
ASMTL database at LOVD
http://www.LOVD.nl/ASMTL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASPA
aspartoacylase (Canavan disease)
608034
|
aspartoacylase (Canavan disease) (ASPA) Variation Database
http://www.LOVD.nl/ASPA
|
Gajja Salomons
|
ASS1
argininosuccinate synthase 1
603470
|
ASS1 database at LOVD
http://www.LOVD.nl/ASS1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ASS1
argininosuccinate synthase 1
603470
|
Argininosuccinate synthetase 1 (ASS1) database
http://lovd.bx.psu.edu/home.php?select_db=ASS1
|
Belinda Giardine and Joseph Borg
|
ATM
ataxia telangiectasia mutated
607585
|
ATM at LOVD
http://www.LOVD.nl/ATM
|
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA
|
ATP11C
ATPase, class VI, type 11C
300516
|
ATP11C database at LOVD
http://www.LOVD.nl/ATP11C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
182340
|
ATP1A2 database at LOVD
http://www.LOVD.nl/ATP1A2
|
Boukje de Vries, LUMC, Leiden, The Netherlands
|
ATP1B4
ATPase, Na+/K+ transporting, beta 4 polypeptide
|
ATP1B4 database at LOVD
http://www.LOVD.nl/ATP1B4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATP2B3
ATPase, Ca++ transporting, plasma membrane 3
300014
|
ATP2B3 database at LOVD
http://www.LOVD.nl/ATP2B3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATP6AP2
ATPase, H+ transporting, lysosomal accessory protein 2
300556
|
ATP6AP2 database at LOVD
http://www.LOVD.nl/ATP6AP2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATP7A
ATPase, Cu++ transporting, alpha polypeptide
300011
|
ATP7A database at LOVD
http://www.LOVD.nl/ATP7A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
|
Wilson Disease Mutation Database
http://www.wilsondisease.med.ualberta.ca/database.asp
|
Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide
606882
|
The UMD ATP7B mutations database
http://www.umd.be/ATP7B/
|
Irene Ceballos,
Paris, France
|
ATP8B1
ATPase, aminophospholipid transporter, class I, type 8B, member 1
602397
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ATP8B1
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
300032
|
ATRX database at LOVD
http://www.LOVD.nl/ATRX
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
300032
|
alpha thalassemia/mental Retardation syndrome X-linked (ATRX) database
http://lovd.bx.psu.edu/home.php?select_db=ATRX
|
Belinda Giardine and Joseph Borg
|
ATXN3L
ataxin 3-like
|
ATXN3L database at LOVD
http://www.LOVD.nl/ATXN3L
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AUH
AU RNA binding protein/enoyl-CoA hydratase
600529
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=AUH
|
Stefanie Kalb
|
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
|
AVP
arginine vasopressin
192340
|
nndi ARGININE VASOPRESSIN (AVP)
http://www.medgen.mcgill.ca/nndi/
|
NNDI Administrator and Ellen Buschman
|
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
|
AVPR2
arginine vasopressin receptor 2
300538
|
AVPR2 database at LOVD
http://www.LOVD.nl/AVPR2
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AWAT1
acyl-CoA wax alcohol acyltransferase 1
|
AWAT1 database at LOVD
http://www.LOVD.nl/AWAT1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
AWAT2
acyl-CoA wax alcohol acyltransferase 2
|
AWAT2 database at LOVD
http://www.LOVD.nl/AWAT2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
|
Go Back To Main Index!
|
B3GALTL
beta 1,3-galactosyltransferase-like
610308
|
B3GALTL - Peters' Plus syndrome at LOVD
http://www.LOVD.nl/B3GALTL
|
Janneke Weiss, LUMC, Leiden, Nederland
|
B4GALT1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
137060
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
BAG3
BCL2-associated athanogene 3
603883
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/BAG3
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
BBS1
Bardet-Biedl syndrome 1
209901
|
Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)
http://www.retina-international.org/sci-news/bbs1mut.htm
|
Retina International
|
BBS2
Bardet-Biedl syndrome 2
606151
|
Mutations of the Bardet-Biedl Syndrome Type 2 Gene
http://www.retina-international.org/sci-news/bbs2mut.htm
|
Retina International
|
BBS4
Bardet-Biedl syndrome 4
600374
|
Mutations of the Bardet-Biedl Syndrome Type 4 Gene
http://www.retina-international.org/sci-news/bbs4mut.htm
|
Retina International
|
BBS7
Bardet-Biedl syndrome 7
607590
|
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)
http://www.retina-international.org/sci-news/bbs7mut.htm
|
Retina International
|
BCAM
basal cell adhesion molecule (Lutheran blood group)
111200
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
BCHE
butyrylcholinesterase
177400
|
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
http://bioweb.ensam.inra.fr/ESTHER/general?what=index
|
Xavier Cousin,
Institut National de la Recherche, Agronomique,
Montpellier, France
|
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
606557
|
B-cell CLL/lymphoma 11A (BCL11A) database
http://lovd.bx.psu.edu/home.php?select_db=BCL11A
|
Belinda Giardine and Joseph Borg
|
BCOR
BCL6 co-repressor
300485
|
BCOR database at LOVD
http://www.LOVD.nl/BCOR
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BCORL1
BCL6 co-repressor-like 1
300688
|
BCORL1 database at LOVD
http://www.LOVD.nl/BCORL1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BEND2
BEN domain containing 2
|
BEND2 database at LOVD
http://www.LOVD.nl/BEND2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BEST1
bestrophin 1
607854
|
Vitelliform macular dystrophy mutation database (VMD2)
http://www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2
|
Heidi L. Schulz, Inst. of Human Genetics, University of Regensburg, Germany
|
BEST1
bestrophin 1
607854
|
Mutations of the Bestrophin Gene
http://www.retina-international.org/sci-news/vmd2mut.htm
|
Retina International
|
BEX2
brain expressed X-linked 2
300691
|
BEX2 database at LOVD
http://www.LOVD.nl/BEX2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BEX4
brain expressed, X-linked 4
300692
|
BEX4 database at LOVD
http://www.LOVD.nl/BEX4
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BFSP1
beaded filament structural protein 1, filensin
603307
|
BFSP1 database at LOVD
http://www.LOVD.nl/BFSP1
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
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
|
BFSP2
beaded filament structural protein 2, phakinin
603212
|
BFSP2 database at LOVD
http://www.LOVD.nl/BFSP2
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
BGN
biglycan
301870
|
BGN database at LOVD
http://www.LOVD.nl/BGN
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BHLHB9
basic helix-loop-helix domain containing, class B, 9
|
BHLHB9 database at LOVD
http://www.LOVD.nl/BHLHB9
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BLM
Bloom syndrome, RecQ helicase-like
604610
|
BLMbase: Mutation registry for Bloom Syndrome
http://bioinf.uta.fi/BLMbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Finland
|
BLNK
B-cell linker
604515
|
BLNKbase: Mutation registry for BLNK deficiency
http://bioinf.uta.fi/BLNKbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
BMP15
bone morphogenetic protein 15
300247
|
BMP15 database at LOVD
http://www.LOVD.nl/BMP15
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BMP2KL
BMP2 inducible kinase-like
|
BMP2KL database at LOVD
http://www.LOVD.nl/BMP2KL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BMX
BMX non-receptor tyrosine kinase
300101
|
BMX database at LOVD
http://www.LOVD.nl/BMX
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BRCA1
breast cancer 1, early onset
113705
|
Breast Cancer
http://research.nhgri.nih.gov/bic/
|
Lawrence C. Brody & Breast Cancer Information Core
NCHGR/NIH Bethesda, U.S.A.
|
BRCA1
breast cancer 1, early onset
113705
|
The UMD BRCA1 mutations database
http://www.umd.be/BRCA1/
|
R. Lidereau
|
BRCA1
breast cancer 1, early onset
113705
|
Zhejiang University-Adinovo Center BRCA1 Database
http://www.china-hvp.org/LOVD/?select_db=BRCA1
|
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan
|
BRCA1
breast cancer 1, early onset
113705
|
LOVD - BReast CAncer 1 - literature unclassified variants (BRCA1)
http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA1
|
Maaike Vreeswijk and Peter Devilee
|
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
|
BRCA2
breast cancer 2, early onset
600185
|
Zhejiang University-Adinovo Center BRCA2 Database
http://www.china-hvp.org/LOVD/?select_db=BRCA2
|
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan
|
BRCA2
breast cancer 2, early onset
600185
|
LOVD - BReast CAncer 2 - literature unclassified variants (BRCA2)
http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA2
|
Maaike Vreeswijk and Peter Devilee
|
BRIP1
BRCA1 interacting protein C-terminal helicase 1
605882
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
BRWD3
bromodomain and WD repeat domain containing 3
300553
|
BRWD3 database at LOVD
http://www.LOVD.nl/BRWD3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
BSCL2
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
606158
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
BSG
basigin (Ok blood group)
109480
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
BTK
Bruton agammaglobulinemia tyrosine kinase
300300
|
BTK base: Mutation registry for X-linked agammaglobulinemia
http://bioinf.uta.fi/BTKbase/
|
Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland
|
BTK
Bruton agammaglobulinemia tyrosine kinase
300300
|
BTK database at LOVD
http://www.LOVD.nl/BTK
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
|
Go Back To Main Index!
|
C1GALT1C1
C1GALT1-specific chaperone 1
300611
|
C1GALT1C1 database at LOVD
http://www.LOVD.nl/C1GALT1C1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
C1QA
complement component 1, q subcomponent, A chain
120550
|
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Finland
|
C1QB
complement component 1, q subcomponent, B chain
120570
|
C1QBbase: Mutation registry for C1qB deficiency
http://bioinf.uta.fi/C1QBbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C1QC
complement component 1, q subcomponent, C chain
120575
|
C1QGbase: Mutation registry for C1qG deficiency
http://bioinf.uta.fi/C1QGbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C1S
complement component 1, s subcomponent
120580
|
C1Sbase: Mutation registry for C1s deficiency
http://bioinf.uta.fi/C1Sbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C2
complement component 2
217000
|
C2base: Mutation registry for C2 deficiency
http://bioinf.uta.fi/C2base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C3
complement component 3
120700
|
C3base: Mutation registry for C3 deficiency
http://bioinf.uta.fi/C3base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C5
complement component 5
120900
|
C5base: Mutation registry for C5 deficiency
http://bioinf.uta.fi/C5base/index2.html
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C6
complement component 6
217050
|
C6base: Mutation registry for C6 deficiency
http://bioinf.uta.fi/C6base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C7
complement component 7
217070
|
C7base: Mutation registry for C7 deficiency
http://bioinf.uta.fi/C7base/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C8B
complement component 8, beta polypeptide
120960
|
C8Bbase: Mutation registry for C8B deficiency
http://bioinf.uta.fi/C8Bbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
C9
complement component 9
120940
|
C9base: Mutation registry for C9 deficiency
http://bioinf.uta.fi/C9base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CA2
carbonic anhydrase II
611492
|
CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis
http://bioinf.uta.fi/CA2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CA5B
carbonic anhydrase VB, mitochondrial
300230
|
CA5B database at LOVD
http://www.LOVD.nl/CA5B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
601011
|
CAC1A1A database at LOVD
http://www.LOVD.nl/CACNA1A
|
Elles Boon and Boukje de Vries, LUMC, Leiden, Nederland
|
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
114205
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
114205
|
Zhejiang University-Adinovo Center CACNA1C Database
http://www.china-hvp.org/LOVD/?select_db=CACNA1C
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
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
|
CACNA1F
calcium channel, voltage-dependent, L type, alpha 1F subunit
300110
|
CACNA1F database at LOVD
http://www.LOVD.nl/CACNA1F
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
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.LOVD.nl/CAPN3
|
Johan T. den Dunnen
Leiden Univ.
Med Centre,Leiden,
The Netherlands
|
CAPN6
calpain 6
300146
|
CAPN6 database at LOVD
http://www.LOVD.nl/CAPN6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
300172
|
CASK database at LOVD
http://www.LOVD.nl/CASK
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CASP10
caspase 10, apoptosis-related cysteine peptidase
601762
|
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
http://bioinf.uta.fi/CASP10base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CASP10
caspase 10, apoptosis-related cysteine peptidase
601762
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=CASP10
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
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.LOVD.nl/CAV3
|
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
|
CAV3
caveolin 3
601253
|
Zhejiang University-Adinovo Center CAV3 Database
http://www.china-hvp.org/LOVD/?select_db=CAV3
|
Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang
|
CBS
cystathionine-beta-synthase
236200
|
Cystathionine beta-synthase database
http://www.uchsc.edu/cbs/
|
Jan P. Kraus
Univ. of Colorado
Denver, U.S.A.
|
CCDC120
coiled-coil domain containing 120
|
CCDC120 database at LOVD
http://www.LOVD.nl/CCDC120
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CCDC22
coiled-coil domain containing 22
|
CCDC22 database at LOVD
http://www.LOVD.nl/CCDC22
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CCNB3
cyclin B3
300456
|
CCNB3 database at LOVD
http://www.LOVD.nl/CCNB3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CD19
CD19 molecule
107265
|
CD19base: Mutation registry for CD19 deficiency
http://bioinf.uta.fi/CD19base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD247
CD247 molecule
186780
|
CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency
http://bioinf.uta.fi/CD247base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD3D
CD3d molecule, delta (CD3-TCR complex)
186790
|
CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
http://bioinf.uta.fi/CD3Dbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD3E
CD3e molecule, epsilon (CD3-TCR complex)
186830
|
CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
http://bioinf.uta.fi/CD3Ebase/
|
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
|
CD3G
CD3g molecule, gamma (CD3-TCR complex)
186740
|
CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency
http://bioinf.uta.fi/CD3Gbase/
|
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
|
CD40
CD40 molecule, 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
|
CD40LG
CD40 ligand
300386
|
CD40LG database at LOVD
http://www.LOVD.nl/CD40LG
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CD55
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
125240
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
CD55
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
125240
|
CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase)
http://bioinf.uta.fi/CD55base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD59
CD59 molecule, complement regulatory protein
107271
|
CD59base: Mutation registry for CD59 deficiency
http://bioinf.uta.fi/CD59base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD79A
CD79a molecule, immunoglobulin-associated alpha
112205
|
CD79Abase: Mutation registry for Igα deficiency
http://bioinf.uta.fi/CD79Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD8A
CD8a molecule
186910
|
CD8Abase: Mutation registry for CD8 deficiency
http://bioinf.uta.fi/CD8Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CD99
CD99 molecule
450000
|
CD99 database at LOVD
http://www.LOVD.nl/CD99
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CD99L2
CD99 molecule-like 2
|
CD99L2 database at LOVD
http://www.LOVD.nl/CD99L2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CDH23
cadherin-related 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-related 23
605516
|
Mutations of the Cadherin-related Protein 23 Gene
http://www.retina-international.org/sci-news/cdh23mut.htm
|
Retina International
|
CDH23
cadherin-related 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
|
CDK16
cyclin-dependent kinase 16
311550
|
PCTK1 database at LOVD
http://www.LOVD.nl/CDK16
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CDKL5
cyclin-dependent kinase-like 5
300203
|
CDKL5 database at LOVD
http://www.LOVD.nl/CDKL5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
600160
|
CDKN2a Database Project (a human p16 database with annotation)
https://biodesktop.uvm.edu/perl/p16
|
Marc Greenblatt
Univ. of Vermont,
Burlington VT, USA
|
CDKN2A
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
600160
|
CDKN2A database at LOVD
http://www.LOVD.nl/CDKN2A
|
Janneke Weiss, LUMC, Leiden, The Netherlands
|
CDR1
cerebellar degeneration-related protein 1, 34kDa
302650
|
CDR1 database at LOVD
http://www.LOVD.nl/CDR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CEBPE
CCAAT/enhancer binding protein (C/EBP), epsilon
600749
|
CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
http://bioinf.uta.fi/CEBPEbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CENPI
centromere protein I
300065
|
CENPI database at LOVD
http://www.LOVD.nl/CENPI
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CFD
complement factor D (adipsin)
134350
|
CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase)
http://bioinf.uta.fi/CFDbase/index.php
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFH
complement factor H
134370
|
CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
http://bioinf.uta.fi/CFHbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFI
complement factor I
217030
|
CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
http://bioinf.uta.fi/CFIbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFL2
cofilin 2 (muscle)
601443
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/CFL2
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
CFP
complement factor properdin
300383
|
PFCbase: Mutation registry for properdin deficiency
http://bioinf.uta.fi/PFCbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CFP
complement factor properdin
300383
|
CFP database at LOVD
http://www.LOVD.nl/CFP
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
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
|
CHM
choroideremia (Rab escort protein 1)
300390
|
CHM database at LOVD
http://www.LOVD.nl/CHM
|
D. Baux, Institut Universitaire de Recherche Clinique UFR Médecine Site NORD, Montpellier, France
|
CHMP4B
chromatin modifying protein 4B
610897
|
CHMP4B database at LOVD
http://www.LOVD.nl/CHMP4B
|
Johan T den Dunnen Leiden Univ. Med Centre
|
CHRDL1
chordin-like 1
300350
|
CHRDL1 database at LOVD
http://www.LOVD.nl/CHRDL1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CHRNG
cholinergic receptor, nicotinic, gamma
100730
|
Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database
http://www.LOVD.nl/CHRNG
|
Dr Julie Vogt and Dr Derek Lim
|
CIITA
class II, major histocompatibility complex, transactivator
600005
|
CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)
http://bioinf.uta.fi/CIITAbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CITED1
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
300149
|
CITED1 database at LOVD
http://www.LOVD.nl/CITED1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CLCN1
chloride channel 1, skeletal muscle
118425
|
CLCN1 - Chloride channel 1, skeletal muscle
http://www.LOVD.nl/CLCN1
|
Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden
|
CLCN4
chloride channel 4
302910
|
CLCN4 database at LOVD
http://www.LOVD.nl/CLCN4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CLCN5
chloride channel 5
300008
|
CLCN5 database at LOVD
http://www.LOVD.nl/CLCN5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CLCN7
chloride channel 7
602727
|
CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2
http://bioinf.uta.fi/CLCN7base/
|
Mauno Vihinen,
Univ. of Tampere,
Tampere, Finland
|
CLDN14
claudin 14
605608
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp
Univ. of Antwerp
Antwerp, Belgium
Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
CLDN2
claudin 2
300520
|
CLDN2 database at LOVD
http://www.LOVD.nl/CLDN2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CLIC2
chloride intracellular channel 2
300138
|
CLIC2 database at LOVD
http://www.LOVD.nl/CLIC2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CLN3
ceroid-lipofuscinosis, neuronal 3
607042
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN3
ceroid-lipofuscinosis, neuronal 3
607042
|
Mutations of the CLN3 Gene
http://www.retina-international.org/sci-news/cln3mut.htm
|
Retina International
|
CLN4
ceroid-lipofuscinosis, neuronal 4 (Kufs disease)
204300
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN5
ceroid-lipofuscinosis, neuronal 5
608102
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN6
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
606725
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLN8
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
607837
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
CLRN1
clarin 1
606397
|
Mutations of the Usher Syndrome Type 3 Gene (USH3)
http://www.retina-international.org/sci-news/ush3mut.htm
|
Retina International
|
CLRN1
clarin 1
606397
|
The UMD USH3A mutations database
http://www.umd.be/USH3A/
|
A.-F. Roux and D. Baux
|
CLRN1
clarin 1
606397
|
Retinal and hearing impairment genetic mutation database
https://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CLRN1
|
David Baux
|
CNGA1
cyclic nucleotide gated channel alpha 1
123825
|
Mutations of the Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga1mut.htm
|
Retina International
|
CNGA2
cyclic nucleotide gated channel alpha 2
300338
|
CNGA2 database at LOVD
http://www.LOVD.nl/CNGA2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CNGA3
cyclic nucleotide gated channel alpha 3
600053
|
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga3mut.htm
|
Retina International
|
CNKSR2
connector enhancer of kinase suppressor of Ras 2
300724
|
CNKSR2 database at LOVD
http://www.LOVD.nl/CNKSR2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CNTN1
contactin 1
600016
|
CNTN1 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/CNTN1
|
Johan T den Dunnen Leiden Univ. Med Centre
|
CNTNAP2
contactin associated protein-like 2
604569
|
Contactin associated protein-like 2 (CNTNAP2) database
http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2
|
Belinda Giardine and Joseph Borg
|
COCH
coagulation factor C homolog, cochlin (Limulus polyphemus)
603196
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
COL11A2
collagen, type XI, alpha 2
120290
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
COL1A1
collagen, type I, alpha 1
120150
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
COL1A2
collagen, type I, alpha 2
120160
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
COL3A1
collagen, type III, alpha 1
120180
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
COL3A1
collagen, type III, alpha 1
120180
|
The UMD COL3A1 mutations database
http://www.umd.be/COL3A1/
|
P. Khau van Kien
|
COL4A5
collagen, type IV, alpha 5
303630
|
ALPORT syndrome and COL4A5 gene Database
http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php
|
Genevieve Pont-Kingdon, PhD, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA
|
COL4A5
collagen, type IV, alpha 5
303630
|
Collagen, type IV, alpha 5 (COL4A5) Mental Retardation Database
http://www.LOVD.nl/COL4A5
|
Judy Savige
|
COL4A6
collagen, type IV, alpha 6
303631
|
Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database
http://www.LOVD.nl/COL4A6
|
Judy Savige
|
COL5A1
collagen, type V, alpha 1
120215
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
COL5A2
collagen, type V, alpha 2
120190
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
COL6A1
collagen, type VI, alpha 1
120220
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.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.LOVD.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.LOVD.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/general?what=index
|
Xavier Cousin,
Institut National de la Recherche, Agronomique,
Montpellier, France
|
CPS1
carbamoyl-phosphate synthetase 1, mitochondrial
608307
|
CPS1 database at LOVD
http://www.LOVD.nl/CPS1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CPXCR1
CPX chromosome region, candidate 1
|
CPXCR1 database at LOVD
http://www.LOVD.nl/CPXCR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CR1
complement component (3b/4b) receptor 1 (Knops blood group)
120620
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
CRB1
crumbs homolog 1 (Drosophila)
604210
|
Mutations of the Human Crumbs Homologue 1
http://www.retina-international.org/sci-news/crb1mut.htm
|
Retina International
|
CREBBP
CREB binding protein
600140
|
CREBBP - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/CREBBP
|
Dorien Peters, Clinical Genetics, LUMC, Leiden
|
CRTAP
cartilage associated protein
605497
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
CRX
cone-rod homeobox
602225
|
Mutations of the Cone Rod Homeobox Gene
http://www.retina-international.org/sci-news/crxmut.htm
|
Retina International
|
CRYAA
crystallin, alpha A
123580
|
CRYAA database at LOVD
http://www.LOVD.nl/CRYAA
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYAB
crystallin, alpha B
123590
|
CRYAB database at LOVD
http://www.LOVD.nl/CRYAB
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBA1
crystallin, beta A1
123610
|
CRYBA1 database at LOVD
http://www.LOVD.nl/CRYBA1
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBA4
crystallin, beta A4
123631
|
CRYBA4 database at LOVD
http://www.LOVD.nl/CRYBA4
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB1
crystallin, beta B1
600929
|
CRYBB1 database at LOVD
http://www.LOVD.nl/CRYBB1
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB2
crystallin, beta B2
123620
|
CRYBB2 database at LOVD
http://www.LOVD.nl/CRYBB2
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYBB3
crystallin, beta B3
123630
|
CRYBB3 database at LOVD
http://www.LOVD.nl/CRYBB3
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYGC
crystallin, gamma C
123680
|
CRYGC database at LOVD
http://www.LOVD.nl/CRYGC
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYGD
crystallin, gamma D
123690
|
CRYGD database at LOVD
http://www.LOVD.nl/CRYGD
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYGS
crystallin, gamma S
123730
|
CRYGS database at LOVD
http://www.LOVD.nl/CRYGS
|
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
|
CRYM
crystallin, mu
123740
|
CRYM database at LOVD
http://www.LOVD.nl/CRYM
|
Johan T den Dunnen Leiden Univ. Med Centre
|
CSAG1
chondrosarcoma associated gene 1
|
CSAG1 database at LOVD
http://www.LOVD.nl/CSAG1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CSAG4
CSAG family, member 4
|
CSAG4 database at LOVD
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSAG4
|
Ing. Ivo F.A.C. Fokkema
|
CSF2RA
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
425000
|
CSF2RA database at LOVD
http://www.LOVD.nl/CSF2RA
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CSNK2A1
casein kinase 2, alpha 1 polypeptide
115440
|
Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database
http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1
|
Belinda Giardine and Joseph Borg
|
CSTF2
cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa
600368
|
CSTF2 database at LOVD
http://www.LOVD.nl/CSTF2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CT45A2
cancer/testis antigen family 45, member A2
300793
|
CT45A2 database at LOVD
http://www.LOVD.nl/CT45A2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CT45A5
cancer/testis antigen family 45, member A5
300796
|
CT45A5 database at LOVD
http://www.LOVD.nl/CT45A5
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CTAG2
cancer/testis antigen 2
300396
|
CTAG2 database at LOVD
http://www.LOVD.nl/CTAG2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CTDP1
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
604927
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
CTPS2
CTP synthase II
300380
|
CTPS2 database at LOVD
http://www.LOVD.nl/CTPS2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CTSC
cathepsin C
602365
|
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
http://bioinf.uta.fi/CTSCbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CUL4B
cullin 4B
300304
|
CUL4B database at LOVD
http://www.LOVD.nl/CUL4B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXCR4
chemokine (C-X-C motif) receptor 4
162643
|
CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)
http://bioinf.uta.fi/CXCR4base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CXorf1
chromosome X open reading frame 1
300565
|
CXorf1 database at LOVD
http://www.LOVD.nl/CXorf1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf21
chromosome X open reading frame 21
|
CXorf21 database at LOVD
http://www.LOVD.nl/CXorf21
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf22
chromosome X open reading frame 22
|
CXorf22 database at LOVD
http://www.LOVD.nl/CXorf22
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf23
chromosome X open reading frame 23
|
CXorf23 database at LOVD
http://www.LOVD.nl/CXorf23
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf24
chromosome X open reading frame 24
|
CXorf24 database at LOVD
http://www.LOVD.nl/CXorf24
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf27
chromosome X open reading frame 27
|
CXorf27 database at LOVD
http://www.LOVD.nl/CXorf27
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf28
chromosome X open reading frame 28
|
CXorf28 database at LOVD
http://www.LOVD.nl/CXorf28
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf30
chromosome X open reading frame 30
|
CXorf30 database at LOVD
http://www.LOVD.nl/CXorf30
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf36
chromosome X open reading frame 36
|
CXorf36 database at LOVD
http://www.LOVD.nl/CXorf36
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf38
chromosome X open reading frame 38
|
CXorf38 database at LOVD
http://www.LOVD.nl/CXorf38
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf41
chromosome X open reading frame 41
|
CXorf41 database at LOVD
http://www.LOVD.nl/CXorf41
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf56
chromosome X open reading frame 56
|
CXorf56 database at LOVD
http://www.LOVD.nl/CXorf56
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf57
chromosome X open reading frame 57
|
CXorf57 database at LOVD
http://www.LOVD.nl/CXorf57
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf58
chromosome X open reading frame 58
|
CXorf58 database at LOVD
http://www.LOVD.nl/CXorf58
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf59
chromosome X open reading frame 59
|
CXorf59 database at LOVD
http://www.LOVD.nl/CXorf59
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf64
chromosome X open reading frame 64
|
CXorf64 database at LOVD
http://www.LOVD.nl/CXorf64
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf65
chromosome X open reading frame 65
|
CXorf65 database at LOVD
http://www.LOVD.nl/CXorf65
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CXorf66
chromosome X open reading frame 66
|
CXorf66 database at LOVD
http://www.LOVD.nl/CXorf66
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
CYBA
cytochrome b-245, alpha polypeptide
608508
|
CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox
http://bioinf.uta.fi/CYBAbase/
|
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CYBB
cytochrome b-245, beta polypeptide
300481
|
CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)
http://bioinf.uta.fi/CYBBbase/
|
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
CYP19A1
cytochrome P450, family 19, subfamily A, polypeptide 1
107910
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP1A1
cytochrome P450, family 1, subfamily A, polypeptide 1
108330
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP1A2
cytochrome P450, family 1, subfamily A, polypeptide 2
124060
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP1B1
cytochrome P450, family 1, subfamily B, polypeptide 1
601771
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingeman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP21A2
cytochrome P450, family 21, subfamily A, polypeptide 2
201910
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP26A1
cytochrome P450, family 26, subfamily A, polypeptide 1
602239
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP27A1
cytochrome P450, family 27, subfamily A, polypeptide 1
606530
|
Cerebrotendinous Xanthomatosis
http://www.LOVD.nl/CYP27A1
|
Jorge Amigo Lechuga and María Jesús Sobrido
|
CYP2A13
cytochrome P450, family 2, subfamily A, polypeptide 13
608055
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2A6
cytochrome P450, family 2, subfamily A, polypeptide 6
122720
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2B6
cytochrome P450, family 2, subfamily B, polypeptide 6
123930
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2C19
cytochrome P450, family 2, subfamily C, polypeptide 19
124020
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2C8
cytochrome P450, family 2, subfamily C, polypeptide 8
601129
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2C9
cytochrome P450, family 2, subfamily C, polypeptide 9
601130
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2D6
cytochrome P450, family 2, subfamily D, polypeptide 6
124030
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2E1
cytochrome P450, family 2, subfamily E, polypeptide 1
124040
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2F1
cytochrome P450, family 2, subfamily F, polypeptide 1
124070
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2J2
cytochrome P450, family 2, subfamily J, polypeptide 2
601258
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2R1
cytochrome P450, family 2, subfamily R, polypeptide 1
608713
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2S1
cytochrome P450, family 2, subfamily S, polypeptide 1
611529
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP2W1
cytochrome P450, family 2, subfamily W, polypeptide 1
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP3A4
cytochrome P450, family 3, subfamily A, polypeptide 4
124010
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP3A43
cytochrome P450, family 3, subfamily A, polypeptide 43
606534
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP3A5
cytochrome P450, family 3, subfamily A, polypeptide 5
605325
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP3A7
cytochrome P450, family 3, subfamily A, polypeptide 7
605340
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP4A11
cytochrome P450, family 4, subfamily A, polypeptide 11
601310
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP4A22
cytochrome P450, family 4, subfamily A, polypeptide 22
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP4B1
cytochrome P450, family 4, subfamily B, polypeptide 1
124075
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYP4F2
cytochrome P450, family 4, subfamily F, polypeptide 2
604426
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
CYSLTR1
cysteinyl leukotriene receptor 1
300201
|
CYSLTR1 database at LOVD
http://www.LOVD.nl/CYSLTR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
|
Go Back To Main Index!
|
D2HGDH
D-2-hydroxyglutarate dehydrogenase
609186
|
D2HGDH database at LOVD
http://www.LOVD.nl/D2HGDH
|
Gajja Salomons
|
DACH2
dachshund homolog 2 (Drosophila)
300608
|
DACH2 database at LOVD
http://www.LOVD.nl/DACH2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DAG1
dystroglycan 1 (dystrophin-associated glycoprotein 1)
128239
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/DAG1
|
JT den Dunnen
|
DARC
Duffy blood group, chemokine receptor
110700
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,
Santosh Patnaik, Dept. of Cell Biology,
Albert Einstein College of Medicine
New York, NY. U.S.A
|
DBH
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
609312
|
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND
http://www.bh4.org/
|
Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation
|
DCAF12L1
DDB1 and CUL4 associated factor 12-like 1
|
DCAF12L1 database at LOVD
http://www.LOVD.nl/DCAF12L1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DCAF12L2
DDB1 and CUL4 associated factor 12-like 2
|
DCAF12L2 database at LOVD
http://www.LOVD.nl/DCAF12L2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DCAF8L1
DDB1 and CUL4 associated factor 8-like 1
|
DCAF8L1 database at LOVD
http://www.LOVD.nl/DCAF8L1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DCLRE1C
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
605988
|
DCLRE1Cbase: Mutation registry for Artemis deficiency
http://bioinf.uta.fi/DCLRE1Cbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
DCTN1
dynactin 1 (p150, glued homolog, Drosophila)
601143
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
DDC
dopa decarboxylase (aromatic L-amino acid decarboxylase)
107930
|
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND
http://www.bh4.org/
|
Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation
|
DDX3X
DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked
300160
|
DDX3X database at LOVD
http://www.LOVD.nl/DDX3X
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DDX53
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
|
DDX53 database at LOVD
http://www.LOVD.nl/DDX53
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DES
desmin
125660
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.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
|
DFNB31
deafness, autosomal recessive 31
607928
|
Retinal and hearing impairment genetic mutation database WHRN
http://www.LOVD.nl/WHRN
|
David Baux
|
DHCR7
7-dehydrocholesterol reductase
602858
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=DHCR7
|
Martina Witsch-Baumgartner
|
DIAPH1
diaphanous homolog 1 (Drosophila)
602121
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp
Univ. of Antwerp
Antwerp, Belgium
Richard J.H. Smith
Univ. of Iowa
Hospitals & Clinics
Iowa city, U.S.A
|
DIAPH2
diaphanous homolog 2 (Drosophila)
300108
|
DIAPH2 database at LOVD
http://www.LOVD.nl/DIAPH2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DKC1
dyskeratosis congenita 1, dyskerin
300126
|
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
http://bioinf.uta.fi/DKC1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
DKC1
dyskeratosis congenita 1, dyskerin
300126
|
The Telomerase Database
http://telomerase.asu.edu/diseases.html#dkc1
|
Julian J-L Chen at Arizona State University
|
DKC1
dyskeratosis congenita 1, dyskerin
300126
|
DKC1 database at LOVD
http://www.LOVD.nl/DKC1
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DLG3
discs, large homolog 3 (Drosophila)
300189
|
DLG3 database at LOVD
http://www.LOVD.nl/DLG3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DMD
dystrophin
300377
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.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
|
DMD
dystrophin
300377
|
Duchenne Muscular Dystrophy pages (whole exon changes)
http://www.LOVD.nl/DMD_d
|
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands
|
DNASE1L1
deoxyribonuclease I-like 1
300081
|
DNASE1L1 database at LOVD
http://www.LOVD.nl/DNASE1L1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DNM2
dynamin 2
602378
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
DNMT3B
DNA (cytosine-5-)-methyltransferase 3 beta
602900
|
DNMT3Bbase: Mutation registry for ICF syndrome
http://bioinf.uta.fi/DNMT3Bbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
DOK7
docking protein 7
610285
|
DOK7 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/DOK7
|
Tom Winder
|
DPAGT1
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
191350
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
DPM1
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
603503
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs
Center for Human Genetics
Leuven, Belgium
|
DPYD
dihydropyrimidine dehydrogenase
274270
|
UMD Locus Specific Databases
http://www.umd.be/DPYD/
|
Jean Christophe Boyer, Nimes, France
|
DRP2
dystrophin related protein 2
300052
|
DRP2 database at LOVD
http://www.LOVD.nl/DRP2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DSC2
desmocollin 2
125645
|
ARVD/C Genes Variants Database
http://www.arvcdatabase.info
|
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
|
DSG2
desmoglein 2
125671
|
ARVD/C Genes Variants Database
http://www.arvcdatabase.info
|
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
|
DSP
desmoplakin
125647
|
ARVD/C Genes Variants Database
http://www.arvcdatabase.info
|
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
|
DTNA
dystrobrevin, alpha
601239
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/DTNA
|
Johan T. den Dunnen,
Leiden Univ.Med Centre,
Leiden, The Netherlands
|
DUSP21
dual specificity phosphatase 21
300678
|
DUSP21 database at LOVD
http://www.LOVD.nl/DUSP21
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DYNLT3
dynein, light chain, Tctex-type 3
300302
|
DYNLT3 database at LOVD
http://www.LOVD.nl/DYNLT3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
DYSF
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
603009
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/DYSF
|
Johan T. den Dunnen
Leiden Univ.
Med Centre,
Leiden, The Netherlands
|
|
Go Back To Main Index!
|
EDA
ectodysplasin A
300451
|
EDA database at LOVD
http://www.LOVD.nl/EDA
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EDA2R
ectodysplasin A2 receptor
300276
|
EDA2R database at LOVD
http://www.LOVD.nl/EDA2R
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EDN3
endothelin 3
131242
|
EDN3 database at LOVD
http://www.LOVD.nl/EDN3
|
Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
|
EDNRB
endothelin receptor type B
131244
|
EDNRB database at LOVD
http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=EDNRB
|
Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
|
EFEMP1
EGF-containing fibulin-like extracellular matrix protein 1
601548
|
Mutations of the EGF-containing fibulin-like extracellular matrix protein 1
http://www.retina-international.org/sci-news/efempmut.htm
|
Retina International
|
EFHC2
EF-hand domain (C-terminal) containing 2
|
EFHC2 database at LOVD
http://www.LOVD.nl/EFHC2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EFNB1
ephrin-B1
300035
|
EFNB1 database at LOVD
http://www.LOVD.nl/EFNB1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EGFL6
EGF-like-domain, multiple 6
300239
|
EGFL6 database at LOVD
http://www.LOVD.nl/EGFL6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EGR2
early growth response 2
129010
|
Mutation Database of Inherited Peripheral Neuropathies
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
EIF2S3
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
300161
|
EIF2S3 database at LOVD
http://www.LOVD.nl/EIF2S3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ELANE
elastase, neutrophil expressed
130130
|
ELA2base: Mutation registry for Cyclic and congenital neutropenia
http://bioinf.uta.fi/ELA2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
ELANE
elastase, neutrophil expressed
130130
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ELANE
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
ELF4
E74-like factor 4 (ets domain transcription factor)
300775
|
ELF4 database at LOVD
http://www.LOVD.nl/ELF4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ELK1
ELK1, member of ETS oncogene family
311040
|
ELK1 database at LOVD
http://www.LOVD.nl/ELK1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ELOVL4
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
605512
|
Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene
http://www.retina-international.org/sci-news/elovlmut.htm
|
Retina International
|
EMD
emerin
300384
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/EMD
|
Johan T. den Dunnen
Leiden Univ.Med Centre,
Leiden, The Netherlands
|
EMD
emerin
300384
|
The UMD EMD mutations database
http://www.umd.be/EMD/
|
G. Bonne, France
|
ENG
endoglin
131195
|
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.macs.hw.ac.uk/hht/
|
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK
|
ENOX2
ecto-NOX disulfide-thiol exchanger 2
300282
|
ENOX2 database at LOVD
http://www.LOVD.nl/ENOX2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EP300
E1A binding protein p300
602700
|
EP300 - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/EP300
|
Dorien Peters, Clinical Genetics, LUMC, Leiden
|
EPCAM
epithelial cell adhesion molecule
185535
|
InSiGHT - EPCAM
http://www.LOVD.nl/EPCAM
|
Michael Woods, Amanda Dohey and Johan den Dunnen
|
ERCC2
excision repair cross-complementing rodent repair deficiency, complementation group 2
126340
|
Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database
http://lovd.bx.psu.edu/home.php?select_db=ERCC2
|
Belinda Giardine and Joseph Borg
|
ERMAP
erythroblast membrane-associated protein (Scianna blood group)
609017
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Department of Biochemistry,
Santosh Patnaik,
Department of Cell Biology,
Albert Einstein
College of Medicine
New York, NY. U.S.A
|
ESCO2
establishment of cohesion 1 homolog 2 (S. cerevisiae)
609353
|
ESCO2 database at LOVD
http://www.LOVD.nl/ESCO2
|
Birgitt Schuele, USA
|
ESX1
ESX homeobox 1
300154
|
ESX1 database at LOVD
http://www.LOVD.nl/ESX1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
EXT1
exostoses (multiple) 1
608177
|
Multiple Osteochondroma Mutation Database
http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT1
|
Database Administrators
|
EXT2
exostoses (multiple) 2
608210
|
Multiple Osteochondroma Mutation Database
http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2
|
Database Administrators
|
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
|
F8
coagulation factor VIII, procoagulant component
306700
|
The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS)
http://hadb.org.uk/
|
Dr Geoffrey Kemball-Cook
|
F8
coagulation factor VIII, procoagulant component
306700
|
F8 database at LOVD
http://www.LOVD.nl/F8
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
F8
coagulation factor VIII, procoagulant component
306700
|
F8 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HA.htm
|
Francisco Vidal, Lorena Ramirez
|
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
|
F9
coagulation factor IX
300746
|
F9 database at LOVD
http://www.LOVD.nl/F9
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
F9
coagulation factor IX
300746
|
F9 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HB.htm
|
Francisco Vidal, Lorena Ramirez
|
FAAH2
fatty acid amide hydrolase 2
300654
|
FAAH2 database at LOVD
http://www.LOVD.nl/FAAH2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM120C
family with sequence similarity 120C
300741
|
FAM120C database at LOVD
http://www.LOVD.nl/FAM120C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM122B
family with sequence similarity 122B
|
FAM122B database at LOVD
http://www.LOVD.nl/FAM122B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM122C
family with sequence similarity 122C
|
FAM122C database at LOVD
http://www.LOVD.nl/FAM122C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM123B
family with sequence similarity 123B
300647
|
FAM123B database at LOVD
http://www.LOVD.nl/FAM123B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM133A
family with sequence similarity 133, member A
|
FAM133A database at LOVD
http://www.LOVD.nl/FAM133A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM155B
family with sequence similarity 155, member B
|
FAM155B database at LOVD
http://www.LOVD.nl/FAM155B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM3A
family with sequence similarity 3, member A
300492
|
FAM3A database at LOVD
http://www.LOVD.nl/FAM3A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM45B
family with sequence similarity 45, member B
|
FAM45B database at LOVD
http://www.LOVD.nl/FAM45B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM46D
family with sequence similarity 46, member D
|
FAM46D database at LOVD
http://www.LOVD.nl/FAM46D
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM47A
family with sequence similarity 47, member A
|
FAM47A database at LOVD
http://www.LOVD.nl/FAM47A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM47B
family with sequence similarity 47, member B
|
FAM47B database at LOVD
http://www.LOVD.nl/FAM47B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM47C
family with sequence similarity 47, member C
|
FAM47C database at LOVD
http://www.LOVD.nl/FAM47C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM50A
family with sequence similarity 50, member A
300453
|
FAM50A database at LOVD
http://www.LOVD.nl/FAM50A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM9A
family with sequence similarity 9, member A
300477
|
FAM9A database at LOVD
http://www.LOVD.nl/FAM9A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FAM9C
family with sequence similarity 9, member C
300479
|
FAM9C database at LOVD
http://www.LOVD.nl/FAM9C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FANCA
Fanconi anemia, complementation group A
607139
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCB
Fanconi anemia, complementation group B
300515
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium
|
FANCC
Fanconi anemia, complementation group C
227645
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCD2
Fanconi anemia, complementation group D2
227646
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCE
Fanconi anemia, complementation group E
600901
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCF
Fanconi anemia, complementation group F
603467
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCG
Fanconi anemia, complementation group G
602956
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCI
Fanconi anemia, complementation group I
611360
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCL
Fanconi anemia, complementation group L
608111
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen D. Auerbach, PhD
The Rockefeller University, NY
Detlev Schindler,MD,PhD
University of Wuerzburg, Germany
and consortium
|
FANCM
Fanconi anemia, complementation group M
609644
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen Auerbach, Rockefeller University, New York, USA
|
FAS
Fas (TNF receptor superfamily, member 6)
134637
|
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS
http://research.nhgri.nih.gov/ALPS/
|
Jennifer Puck, Stephen Straus, Michael Lenardo, Janet Dale, Joie Davis, Lilia Lei Bi, Jin Wang, NIAID & NHGRI, NIH, U.S.A.
|
FAS
Fas (TNF receptor superfamily, member 6)
134637
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FAS
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
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
|
FASLG
Fas ligand (TNF superfamily, member 6)
134638
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FASLG
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
FATE1
fetal and adult testis expressed 1
300450
|
FATE1 database at LOVD
http://www.LOVD.nl/FATE1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FBN1
fibrillin 1
134797
|
The UMD FBN1 mutations database
http://www.umd.be/FBN1/
|
Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
|
FBN2
fibrillin 2
612570
|
The UMD FBN2 mutations database
http://194.167.35.168/FBN2/
|
G. Collod-Béroud
|
FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64)
146760
|
FCGR1Abase: Mutation registry for CD64 deficiency
http://bioinf.uta.fi/FCGR1Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
FCGR3A
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
146740
|
FCGR3Abase: Mutation registry for Natural killer cell deficiency
http://bioinf.uta.fi/FCGR3Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
FGA
fibrinogen alpha chain
134820
|
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/
|
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France
|
FGB
fibrinogen beta chain
134830
|
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/
|
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France
|
FGD1
FYVE, RhoGEF and PH domain containing 1
300546
|
FGD1 database at LOVD
http://www.LOVD.nl/FGD1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FGG
fibrinogen gamma chain
134850
|
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/
|
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France
|
FH
fumarate hydratase
136850
|
FH database at LOVD
http://www.LOVD.nl/FH
|
Jean-Pierre Bayley, LUMC, Leiden
|
FHL1
four and a half LIM domains 1
300163
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/FHL1
|
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands
|
FIGF
c-fos induced growth factor (vascular endothelial growth factor D)
300091
|
FIGF database at LOVD
http://www.LOVD.nl/FIGF
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FKBP10
FK506 binding protein 10, 65 kDa
607063
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, UK.
|
FKRP
fukutin related protein
606596
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.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.LOVD.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
|
FLCN
folliculin
607273
|
The Folliculin Mutation Database
http://skingenedatabase.com/
|
Database Administration
|
FLNA
filamin A, alpha
300017
|
Filamin A, alpha (FLNA) Mental Retardation Database
http://www.LOVD.nl/FLNA
|
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands
|
FLNC
filamin C, gamma
102565
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/FLNC
|
Johan T den Dunnen Leiden Univ. Med Centre
|
FLT1
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)
165070
|
Fms-related tyrosine kinase 1 (FLT1) database
http://lovd.bx.psu.edu/home.php?select_db=FLT1
|
Belinda Giardine and Joseph Borg
|
FMO3
flavin containing monooxygenase 3
136132
|
The Homo sapients FMO3 Allelic Variant Database
http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3/
|
Elizabeth A. Shephard, Sarah Addou
Dept. Biochem. & Molecular Biol. Univ. College London. UK
Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK
|
FMR1
fragile X mental retardation 1
309550
|
FMR1 database at LOVD
http://www.LOVD.nl/FMR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FMR1NB
fragile X mental retardation 1 neighbor
|
FMR1NB database at LOVD
http://www.LOVD.nl/FMR1NB
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FOXL2
forkhead box L2
605597
|
The Human FOXL2 Allelic Variant Database
http://medgen.ugent.be/LOVD2/home.php?select_db=FOXL2
|
Diane Beysen, Elfride de Baere
Centre for Medical Genetics
Gent, Belgium
|
FOXN1
forkhead box N1
600838
|
FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)
http://bioinf.uta.fi/FOXN1base/
|
Mauno Vihinen & Claudio Pignata, Univ. of Tampere, Tampere, Finland
|
FOXO4
forkhead box O4
300033
|
FOXO4 database at LOVD
http://www.LOVD.nl/FOXO4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FOXP3
forkhead box P3
300292
|
FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX
http://bioinf.uta.fi/FOXP3base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
FOXP3
forkhead box P3
300292
|
FOXP3 database at LOVD
http://www.LOVD.nl/FOXP3
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FOXP3
forkhead box P3
300292
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FOXP3
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
FOXR2
forkhead box R2
|
FOXR2 database at LOVD
http://www.LOVD.nl/FOXR2
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
FRMD7
FERM domain containing 7
300628
|
FRMD7 database at LOVD
http://www.LOVD.nl/FRMD7
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
FRMPD3
FERM and PDZ domain containing 3
|
FRMPD3 database at LOVD
http://www.LOVD.nl/FRMPD3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FRMPD4
FERM and PDZ domain containing 4
|
FRMPD4 database at LOVD
http://www.LOVD.nl/FRMPD4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FSCN2
fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
607643
|
Mutations of the Fascin Gene
http://www.retina-international.org/sci-news/fscn2mut.htm
|
Retina International
|
FTHL17
ferritin, heavy polypeptide-like 17
300308
|
FTHL17 database at LOVD
http://www.LOVD.nl/FTHL17
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FTSJ1
FtsJ homolog 1 (E. coli)
300499
|
FTSJ1 database at LOVD
http://www.LOVD.nl/FTSJ1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FUNDC1
FUN14 domain containing 1
|
FUNDC1 database at LOVD
http://www.LOVD.nl/FUNDC1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
FUT1
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
211100
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,
Santosh Patnaik, Dept. of Cell Biology,
Albert Einstein College of Medicine
New York, NY. U.S.A
|
FUT2
fucosyltransferase 2 (secretor status included)
182100
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry; Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A
|
FUT3
fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
111100
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld
Dept. of Biochemistry,
Santosh Patnaik, Dept. of Cell Biology,Albert Einstein College of Medicine
New York, NY. U.S.A
|
FUT6
fucosyltransferase 6 (alpha (1,3) fucosyltransferase)
136836
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,
Santosh Patnaik, Dept. of Cell Biology,
Albert Einstein College of Medicine
New York, NY. U.S.A
|
FUT7
fucosyltransferase 7 (alpha (1,3) fucosyltransferase)
602030
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,
Santosh Patnaik, Dept. of Cell Biology,
Albert Einstein College of Medicine
New York, NY. U.S.A
|
|
Go Back To Main Index!
|
G6PD
glucose-6-phosphate dehydrogenase
305900
|
G6PD Mutations
http://www.bioinf.org.uk/g6pd/
|
Colin Kwok, Department of Biochemistry, Faculty of Medicine, The University of Hong Kong & Andrew C.R. Martin
Department of Biochemistry and Molecular Biology, University College London
|
G6PD
glucose-6-phosphate dehydrogenase
305900
|
G6PD database at LOVD
http://www.LOVD.nl/G6PD
|
Mental Retardation database
|
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
|
GAA
glucosidase, alpha; acid
606800
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GAA
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
GAB3
GRB2-associated binding protein 3
300482
|
GAB3 database at LOVD
http://www.LOVD.nl/GAB3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GABRE
gamma-aminobutyric acid (GABA) A receptor, epsilon
300093
|
GABRE database at LOVD
http://www.LOVD.nl/GABRE
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GABRQ
gamma-aminobutyric acid (GABA) receptor, theta
300349
|
GABRQ database at LOVD
http://www.LOVD.nl/GABRQ
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GALT
galactose-1-phosphate uridylyltransferase
606999
|
Galactosaemia
http://www.ich.bris.ac.uk/galtdb/
|
Linda Tyfield, David Carmichael,
Inst. Child Health, Univ. Bristol, Bristol, UK
|
GALT
galactose-1-phosphate uridylyltransferase
606999
|
Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database
http://arup.utah.edu/database/galactosemia/GALT_welcome.php
|
Rong Mao and Fernanda Calderon, Department of Pathology, University of Utah, USA.
|
GAMT
guanidinoacetate N-methyltransferase
601240
|
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GAMT
|
Gajja Salomons
|
GAN
gigaxonin
605379
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
GARS
glycyl-tRNA synthetase
600287
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
GATM
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
602360
|
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GATM
|
Gajja Salomons
|
GBA
glucosidase, beta, acid
606463
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GBA
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
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
|
GCK
glucokinase (hexokinase 4)
138079
|
Monogenic Diabetes
http://www.LOVD.nl/GCK
|
Monique Losekoot and Vincent Janmaat
|
GCNT2
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
600429
|
GCNT2 database at LOVD
http://www.LOVD.nl/GCNT2
|
Johan T den Dunnen Leiden Univ. Med Centre
|
GDAP1
ganglioside-induced differentiation-associated protein 1
606598
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
GDPD2
glycerophosphodiester phosphodiesterase domain containing 2
|
GDPD2 database at LOVD
http://www.LOVD.nl/GDPD2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GEMIN8
gem (nuclear organelle) associated protein 8
|
GEMIN8 database at LOVD
http://www.LOVD.nl/GEMIN8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GFI1
growth factor independent 1 transcription repressor
600871
|
GFI1base: Mutation registry for SCN and NI-CINA
http://bioinf.uta.fi/GFI1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
GHR
growth hormone receptor
600946
|
LOVD growth
http://www.LOVD.nl/GHR
|
LA Metherell and MO Savage
|
GIGYF2
GRB10 interacting GYF protein 2
612003
|
PARK11 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK11
|
The Parkinson's Institute
|
GJA1
gap junction protein, alpha 1, 43kDa
121014
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
GJA1
gap junction protein, alpha 1, 43kDa
121014
|
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
|
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
|
GJA3
gap junction protein, alpha 3, 46kDa
121015
|
GJA3 database at LOVD
http://www.LOVD.nl/GJA3
|
Johan T den Dunnen Leiden Univ. Med Centre
|
GJA8
gap junction protein, alpha 8, 50kDa
600897
|
GJA8 database at LOVD
http://www.LOVD.nl/GJA8
|
Johan T den Dunnen Leiden Univ. Med Centre
|
GJB1
gap junction protein, beta 1, 32kDa
304040
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
GJB1
gap junction protein, beta 1, 32kDa
304040
|
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
|
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
|
GJB2
gap junction protein, beta 2, 26kDa
121011
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith
Univ. of Iowa Hospitals & Clinics
Iowa city, U.S.A
|
GJB2
gap junction protein, beta 2, 26kDa
121011
|
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
|
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
|
GJB2
gap junction protein, beta 2, 26kDa
121011
|
The UMD DFNB1-GJB2 mutations database
http://www.umd.be/DFNB1-GJB2/
|
A.-F. Roux and D. Baux
|
GJB2
gap junction protein, beta 2, 26kDa
121011
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GJB2
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
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, 30kDa
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, 30kDa
604418
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
GK
glycerol kinase
300474
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/GK
|
Johan T. den Dunnen Leiden Univ. Med Centre
|
GLA
galactosidase, alpha
300644
|
GLA database at LOVD
http://www.LOVD.nl/GLA
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GLOD5
glyoxalase domain containing 5
|
GLOD5 database at LOVD
http://www.LOVD.nl/GLOD5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GLRA1
glycine receptor, alpha 1
138491
|
GLRA1 database at LOVD
http://www.LOVD.nl/GLRA1
|
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands
|
GLRA2
glycine receptor, alpha 2
305990
|
GLRA2 database at LOVD
http://www.LOVD.nl/GLRA2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GLRA4
glycine receptor, alpha 4
|
GLRA4 database at LOVD
http://www.LOVD.nl/GLRA4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GLUD2
glutamate dehydrogenase 2
300144
|
GLUD2 database at LOVD
http://www.LOVD.nl/GLUD2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GM2A
GM2 ganglioside activator
272750
|
GM2A Locus Database
http://www.hexdb.mcgill.ca
|
F. Kaplan, Paulo Cordeiro, McGill University, Montreal, Canada
|
GNAS
GNAS complex locus
139320
|
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/GNAS
|
Johan T. den Dunnen
|
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
|
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
603824
|
GNE database at LOVD
http://www.LOVD.nl/GNE
|
Johan T den Dunnen Leiden Univ. Med Centre
|
GNL3L
guanine nucleotide binding protein-like 3 (nucleolar)-like
|
GNL3L database at LOVD
http://www.LOVD.nl/GNL3L
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GP1BB
glycoprotein Ib (platelet), beta polypeptide
138720
|
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html
|
Dermot Kenny, Royal College of Surgeons in Ireland
|
GP9
glycoprotein IX (platelet)
173515
|
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html
|
Dermot Kenny, Royal College of Surgeons in Ireland
|
GPC4
glypican 4
300168
|
GPC4 database at LOVD
http://www.LOVD.nl/GPC4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPKOW
G patch domain and KOW motifs
|
GPKOW database at LOVD
http://www.LOVD.nl/GPKOW
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
GPM6B
glycoprotein M6B
300051
|
GPM6B database at LOVD
http://www.LOVD.nl/GPM6B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPM6B
glycoprotein M6B
300051
|
Glycoprotein M6B (GPM6B) database
http://lovd.bx.psu.edu/home.php?select_db=GPM6B
|
Belinda Giardine and Joseph Borg
|
GPR101
G protein-coupled receptor 101
300393
|
GPR101 database at LOVD
http://www.LOVD.nl/GPR101
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR112
G protein-coupled receptor 112
|
GPR112 database at LOVD
http://www.LOVD.nl/GPR112
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR119
G protein-coupled receptor 119
300513
|
GPR119 database at LOVD
http://www.LOVD.nl/GPR119
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR143
G protein-coupled receptor 143
300500
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota
|
GPR143
G protein-coupled receptor 143
300500
|
Mutations of the OA1 Gene
http://www.retina-international.org/sci-news/oa1mut.htm
|
Retina International
|
GPR173
G protein-coupled receptor 173
300253
|
GPR173 database at LOVD
http://www.LOVD.nl/GPR173
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR174
G protein-coupled receptor 174
|
GPR174 database at LOVD
http://www.LOVD.nl/GPR174
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR50
G protein-coupled receptor 50
300207
|
GPR50 database at LOVD
http://www.LOVD.nl/GPR50
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR64
G protein-coupled receptor 64
300572
|
GPR64 database at LOVD
http://www.LOVD.nl/GPR64
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPR82
G protein-coupled receptor 82
300748
|
GPR82 database at LOVD
http://www.LOVD.nl/GPR82
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPRASP1
G protein-coupled receptor associated sorting protein 1
300417
|
GPRASP1 database at LOVD
http://www.LOVD.nl/GPRASP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GPRASP2
G protein-coupled receptor associated sorting protein 2
|
GPRASP2 database at LOVD
http://www.LOVD.nl/GPRASP2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GRIA3
glutamate receptor, ionotrophic, AMPA 3
305915
|
GRIA3 database at LOVD
http://www.LOVD.nl/GRIA3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GRIPAP1
GRIP1 associated protein 1
300408
|
GRIPAP1 database at LOVD
http://www.LOVD.nl/GRIPAP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GRK1
G protein-coupled receptor kinase 1
180381
|
Mutations of the Rhodopsin Kinase Gene
http://www.retina-international.org/sci-news/rhokmut.htm
|
Retina International
|
GRPR
gastrin-releasing peptide receptor
305670
|
GRPR database at LOVD
http://www.LOVD.nl/GRPR
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GSPT2
G1 to S phase transition 2
300418
|
GSPT2 database at LOVD
http://www.LOVD.nl/GSPT2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GTPBP6
GTP binding protein 6 (putative)
300124
|
GTPBP6 database at LOVD
http://www.LOVD.nl/GTPBP6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GUCY2D
guanylate cyclase 2D, membrane (retina-specific)
600179
|
Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene
http://www.retina-international.org/sci-news/gcmut.htm
|
Retina International
|
GUCY2F
guanylate cyclase 2F, retinal
300041
|
GUCY2F database at LOVD
http://www.LOVD.nl/GUCY2F
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GYG2
glycogenin 2
300198
|
GYG2 database at LOVD
http://www.LOVD.nl/GYG2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
GYPA
glycophorin A (MNS blood group)
111300
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
GYPB
glycophorin B (MNS blood group)
111740
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
GYPC
glycophorin C (Gerbich blood group)
110750
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
GYPE
glycophorin E (MNS blood group)
138590
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
|
Go Back To Main Index!
|
H2BFWT
H2B histone family, member W, testis-specific
300507
|
H2BFWT database at LOVD
http://www.LOVD.nl/H2BFWT
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HAO2
hydroxyacid oxidase 2 (long chain)
605176
|
Hydroxyacid oxidase 2 (long chain) (HAO2) database
http://lovd.bx.psu.edu/home.php?select_db=HAO2
|
Belinda Giardine and Joseph Borg
|
HAUS7
HAUS augmin-like complex, subunit 7
300540
|
HAUS7 database at LOVD
http://www.LOVD.nl/HAUS7
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HAUS7
HAUS augmin-like complex, subunit 7
300540
|
HAUS7 database at LOVD
http://www.LOVD.nl/HAUS7
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
HAX1
HCLS1 associated protein X-1
605998
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=HAX1
|
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
|
HBA1
hemoglobin, alpha 1
141800
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBA1
hemoglobin, alpha 1
141800
|
Alpha-1 globin (HBA1) database
http://lovd.bx.psu.edu/home.php?select_db=HBA1
|
Belinda Giardine and Joseph Borg
|
HBA2
hemoglobin, alpha 2
141850
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBA2
hemoglobin, alpha 2
141850
|
Alpha-2 globin (HBA2) database
http://lovd.bx.psu.edu/home.php?select_db=HBA2
|
Belinda Giardine and Joseph Borg
|
HBB
hemoglobin, beta
141900
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBB
hemoglobin, beta
141900
|
Beta globin (HBB) database
http://lovd.bx.psu.edu/home.php?select_db=HBB
|
Belinda Giardine and Joseph Borg
|
HBD
hemoglobin, delta
142000
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBD
hemoglobin, delta
142000
|
Delta globin (HBD) database
http://lovd.bx.psu.edu/home.php?select_db=HBD
|
Belinda Giardine and Joseph Borg
|
HBG1
hemoglobin, gamma A
142200
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBG1
hemoglobin, gamma A
142200
|
A-gamma globin (HBG1) database
http://lovd.bx.psu.edu/home.php?select_db=HBG1
|
Belinda Giardine and Joseph Borg
|
HBG2
hemoglobin, gamma G
142250
|
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html
|
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
|
HBG2
hemoglobin, gamma G
142250
|
G-gamma globin (HBG2) databse
http://lovd.bx.psu.edu/home.php?select_db=HBG2
|
Belinda Giardine and Joseph Borg
|
HBS1L
HBS1-like (S. cerevisiae)
612450
|
HBS1-like (HBS1L) database
http://lovd.bx.psu.edu/home.php?select_db=HBS1L
|
Belinda Giardine and Joseph Borg
|
HCCS
holocytochrome c synthase (cytochrome c heme-lyase)
300056
|
HCCS database at LOVD
http://www.LOVD.nl/HCCS
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HCFC1
host cell factor C1 (VP16-accessory protein)
300019
|
HCFC1 database at LOVD
http://www.LOVD.nl/HCFC1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HDAC6
histone deacetylase 6
300272
|
HDAC6 database at LOVD
http://www.LOVD.nl/HDAC6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HDAC8
histone deacetylase 8
300269
|
HDAC8 database at LOVD
http://www.LOVD.nl/HDAC8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HDHD1A
haloacid dehalogenase-like hydrolase domain containing 1A
306480
|
HDHD1A database at LOVD
http://www.LOVD.nl/HDHD1A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HDX
highly divergent homeobox
|
http://www.LOVD.nl/HDX
http://www.LOVD.nl/HAUS7
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
HEPH
hephaestin
300167
|
HEPH database at LOVD
http://www.LOVD.nl/HEPH
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HEXA
hexosaminidase A (alpha polypeptide)
606869
|
Hexosaminidase A; Tay-Sachs Disease
http://www.hexdb.mcgill.ca
|
Feige Kaplan,
Manyphong Phommarinh,
McGill Univ.
Montreal, Canada
|
HEXB
hexosaminidase B (beta polypeptide)
606873
|
HEXB Locus Database
http://www.hexdb.mcgill.ca
|
F. Kaplan,
Paulo Cordeiro,
Manyphong Phommarinh,
McGill University,
Montreal, Canada
|
HGD
homogentisate 1,2-dioxygenase
607474
|
AKUdatabaseHomogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page
http://www.alkaptonuria.cib.csic.es/index.htm
|
Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de BernabéCentro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain (Inactive)
|
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase
610453
|
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/HGSNAT
|
Stéphanie Durand
|
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
|
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
600234
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=HMGCS2
|
Stefanie Kalb
|
HMGN5
high-mobility group nucleosome binding domain 5
300385
|
HMGN5 database at LOVD
http://www.LOVD.nl/HMGN5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HNF1A
HNF1 homeobox A
142410
|
HNF1A at LOVD
http://www.LOVD.nl/HNF1A
|
Monique Losekoot, LUMC, Leiden, Netherlands
|
