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.med.nagoya-u.ac.jp/derma/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/files/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/LOVD2/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/LOVD2/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/files/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
|
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
|
ACADM
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
607008
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/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
|
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
|
ACADVL
acyl-CoA dehydrogenase, very long chain
609575
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/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/
|
Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
|
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/files/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
|
AKAP17A
A kinase (PRKA) anchor protein 17A
465000
|
X-Chromosome gene database - SFRS17A
http://www.LOVD.nl/SFRS17A
|
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://databases.lovd.nl/genomed/home.php?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
|
ALMS1
Alstrom syndrome 1
606844
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
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://databases.lovd.nl/genomed/home.php?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/files/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
|
Colon cancer gene variant databases
- APC
http://www.LOVD.nl/APC
|
Dr. Stefan Aretz and Dr. Waltraut Friedl
|
APC
adenomatous polyposis coli
611731
|
Zhejiang University-Adinovo Center APC Database
http://databases.lovd.nl/genomed/home.php?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
|
ARID1A
AT rich interactive domain 1A (SWI-like)
603024
|
ARID1A database at LOVD
http://www.LOVD.nl/ARID1A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ARL6
ADP-ribosylation factor-like 6
608845
|
EURO-WABB Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
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
|
ASMTL-AS1
ASMTL antisense RNA 1 (non-protein coding)
|
NCRNA00105 database at LOVD
http://www.LOVD.nl/NCRNA00105
|
Jacopo Celli and Johan 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
|
ASXL1
additional sex combs like 1 (Drosophila)
612990
|
LOVD - Leiden Open Variation Database (ASXL1)
http://www.LOVD.nl/ASXL1
|
Helger Yntema
|
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/LOVD2/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
|
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
|
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/files/sci-news/bbs1mut.htm
|
Retina International
|
BBS1
Bardet-Biedl syndrome 1
209901
|
EURO-WABB Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS10
Bardet-Biedl syndrome 10
610148
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS12
Bardet-Biedl syndrome 12
610683
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS2
Bardet-Biedl syndrome 2
606151
|
Mutations of the Bardet-Biedl Syndrome Type 2 Gene
http://www.retina-international.org/files/sci-news/bbs2mut.htm
|
Retina International
|
BBS2
Bardet-Biedl syndrome 2
606151
|
EURO-WABB Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS4
Bardet-Biedl syndrome 4
600374
|
Mutations of the Bardet-Biedl Syndrome Type 4 Gene
http://www.retina-international.org/files/sci-news/bbs4mut.htm
|
Retina International
|
BBS4
Bardet-Biedl syndrome 4
600374
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS5
Bardet-Biedl syndrome 5
603650
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS7
Bardet-Biedl syndrome 7
607590
|
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)
http://www.retina-international.org/files/sci-news/bbs7mut.htm
|
Retina International
|
BBS7
Bardet-Biedl syndrome 7
607590
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
BBS9
Bardet-Biedl syndrome 9
607968
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
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
|
University of Regensburg BEST1 database
http://www-huge.uni-regensburg.de/BEST1_database/home.php
|
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/files/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
|
BIN1
bridging integrator 1
601248
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/BIN1
|
Johan T den Dunnen Leiden Univ. Med Centre
|
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
|
BMP1
bone morphogenetic protein 1
112264
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish
|
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
|
BMPR2
bone morphogenetic protein receptor, type II (serine/threonine kinase)
600799
|
Hereditary Pulmonary Arterial Hypertension and BMPR2 Gene Database
http://www.arup.utah.edu/database/BMPR2/BMPR2_welcome.php
|
Kelli Sumner, University of Utah, ARUP Laboratories
|
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://databases.lovd.nl/genomed/home.php?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://databases.lovd.nl/genomed/home.php?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
|
BTD
biotinidase
609019
|
Biotinidase Deficiency and BTD gene Database
http://www.arup.utah.edu/database/BTD/BTD_welcome.php
|
Melinda Procter, University of Utah, ARUP Laboratories
|
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
|
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
601011
|
Familial Hemiplegic Migraine (FHM) Variation Database
http://grenada.lumc.nl/LOVD2/FHM/home.php?select_db=CACNA1A
|
Paola Carrera PhD and Stefania Battistini MD PhD
|
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://databases.lovd.nl/genomed/home.php?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/files/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/LOVD2/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://databases.lovd.nl/genomed/home.php?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
|
CD40LG
CD40 ligand
300386
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=CD40LG
|
Ammar Husami and Theru A. Sivakumaran
|
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
|
CDH1
cadherin 1, type 1, E-cadherin (epithelial)
192090
|
Colon cancer gene variant databases - CDH1
http://www.LOVD.nl/CDH1
|
Florentia Fostira
|
CDH23
cadherin-related 23
605516
|
Hereditary Hearing Loss Homepage
http://hereditaryhearingloss.org/
|
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/files/sci-news/cdh23mut.htm
|
Retina International
|
CDH23
cadherin-related 23
605516
|
Retinal and hearing impairment genetic mutation database
http://www.LOVD.nl/CDH23
|
David Baux
|
CDH23
cadherin-related 23
605516
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=CDH23
|
Ammar Husami and Theru A. Sivakumaran
|
CDH3
cadherin 3, type 1, P-cadherin (placental)
114021
|
Mutations of the P-Cadherin Gene
http://www.retina-international.org/files/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
|
CEP290
centrosomal protein 290kDa
610142
|
CEP290base
http://medgen.ugent.be/cep290base/
|
Frauke Coppieters
Elfride De Baere
|
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/files/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
|
CHMP2B
charged multivesicular body protein 2B
609512
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
|
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
|
CHST14
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
608429
|
Ehlers-Danlos Syndrome Variant Database (CHST14)
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish
|
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
|
CISD2
CDGSH iron sulfur domain 2
611507
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
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, voltage-sensitive 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/files/sci-news/cln3mut.htm
|
Retina International
|
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/files/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
|
CLRN1
clarin 1
606397
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=CLRN1
|
Ammar Husami and Theru A. Sivakumaran
|
CNGA1
cyclic nucleotide gated channel alpha 1
123825
|
Mutations of the Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/files/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/files/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.
|
COL2A1
collagen, type II, alpha 1
120140
|
Collagen, type II, alpha 1 database at LOVD
https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=COL2A1
|
Isabelle Touitou, Laboratory of Genetics,
A de Villeneuve Hospital,
Montpellier, France
|
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
|
COL7A1
collagen, type VII, alpha 1
120120
|
Medical Genetics Department Institute of Mother and Child
http://www.col7.info
|
Prof. Cezary Kowalewski,
Katarzyna Wertheim-Tysarowska,
|
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/files/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/files/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 (pseudogene)
|
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
|
CTSK
cathepsin K
601105
|
Cathepsin K Mutations DataBase
http://www.fmmukq.com/boke1/showxswz.jsp?wbtreeid=1084&articleid=1075&doctorid=1201
|
Xiaohong Duan, Yang Xue
|
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
|
CXXC1P1
CXXC finger protein 1 pseudogene 1
|
CXorf25 database at LOVD
http://www.LOVD.nl/CXorf25
|
Jacopo Celli and Johan 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
|
DFNB31
deafness, autosomal recessive 31
607928
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=DFNB31
|
Ammar Husami and Theru A. Sivakumaran
|
DHCR7
7-dehydrocholesterol reductase
602858
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=DHCR7
|
Barbara Lanthaler and 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
|
DNAJC5
DnaJ (Hsp40) homolog, subfamily C, member 5
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
|
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
|
DNM2
dynamin 2
602378
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/DNM2
|
Johan T den Dunnen Leiden Univ. Med Centre
|
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
|
DPM3
dolichyl-phosphate mannosyltransferase polypeptide 3
605951
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/DPM3
|
Johan T den Dunnen Leiden Univ. Med Centre
|
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/files/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
|
EIF2AK3
eukaryotic translation initiation factor 2-alpha kinase 3
604032
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
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/LOVD2/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/files/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://arup.utah.edu/database/HHT
|
Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
|
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
|
EZH2
enhancer of zeste homolog 2 (Drosophila)
601573
|
Mendelian genes (EZH2)
http://www.LOVD.nl/EZH2
|
LOVD-Team, but with Curator vacancy
|
|
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/LOVD2/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/LOVD2/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://www.umd.be/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
|
TCA Cycle Gene Mutation Database -FH
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/LOVD2/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/files/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
|
FUS
fused in sarcoma
137070
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
|
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/LOVD2/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
|
GALNT12
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
610290
|
Colon cancer gene variant databases
http://www.LOVD.nl/GALNT12
|
Mamata Sivagnanam, John-Paul Plazzer and Johan T. den Dunnen
|
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/GALT/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/LOVD2/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
|
GDAP1
ganglioside-induced differentiation-associated protein 1
606598
|
MITOchondrial DYNamics variation pages
http://gdap1.mitodyn.org
|
Julien CASSEREAU
|
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/LOVD2/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://hereditaryhearingloss.org/
|
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
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GJB6
|
Ammar Husami and Theru A. Sivakumaran
|
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
|
GLA
galactosidase, alpha
300644
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GLA
|
Ammar Husami and Theru A. Sivakumaran
|
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
|
GNAL
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
139312
|
LOVD 3.0 shared installation (GNAL)
http://www.LOVD.nl/GNAL
|
Satya R. Vemula, University of Tennessee
|
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/files/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/files/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
|
GPR98
G protein-coupled receptor 98
602851
|
Retinal and hearing impairment genetic mutation database
http://www.LOVD.nl/GPR98
|
David Baux, Inserm
|
GPR98
G protein-coupled receptor 98
602851
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GPR98
|
Ammar Husami and Theru A. Sivakumaran
|
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/files/sci-news/rhokmut.htm
|
Retina International
|
GRN
granulin
138945
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
|
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/files/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
|
HAX1
HCLS1 associated protein X-1
605998
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/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
|
HDHD1
cid dehalogenase-like hydrolase domain containing 1
306480
|
HDHD1 database at LOVD
http://www.LOVD.nl/HDHD1
|
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
|
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
|
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
|
HNF4A
hepatocyte nuclear factor 4, alpha
600281
|
HNF4A at LOVD
http://www.LOVD.nl/HNF4A
|
Monique Losekoot, LUMC, Leiden, Netherlands
|
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2 (H')
300610
|
HNRNPH2 database at LOVD
http://www.LOVD.nl/HNRNPH2
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
HPRT1
hypoxanthine phosphoribosyltransferase 1
308000
|
Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome
http://www.ibiblio.org/dnam/mainpage.html
|
Neil Cariello, Univ. Nth Carolina, USA
|
HPS1
Hermansky-Pudlak syndrome 1
604982
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA
|
HPS1
Hermansky-Pudlak syndrome 1
604982
|
Mutations of the ep-Gene
http://www.retina-international.org/files/sci-news/epmut.htm
|
Retina International
|
HPS1
Hermansky-Pudlak syndrome 1
604982
|
Mutations of the HPS Gene
http://www.retina-international.org/files/sci-news/hpsmut.htm
|
Retina International
|
HPS3
Hermansky-Pudlak syndrome 3
606118
|
Mutations of the HPS3 Gene
http://www.retina-international.org/files/sci-news/hps3mut.htm
|
Retina International
|
HPS3
Hermansky-Pudlak syndrome 3
606118
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA
|
HPS3
Hermansky-Pudlak syndrome 3
606118
|
Hermansky-Pudlak syndrome 3 (HPS3)
http://www.LOVD.nl/HPS3
|
LOVD-team, but with Curator vacancy and William (Bill) Oetting
|
HPS4
Hermansky-Pudlak syndrome 4
606682
|
Mutations of the Human light ear Gene (le, HPS4)
http://www.retina-international.org/files/sci-news/lemut.htm
|
Retina International
|
HPS4
Hermansky-Pudlak syndrome 4
606682
|
Hermansky-Pudlak syndrome 4 (HPS4)
http://www.LOVD.nl/HPS4
|
LOVD-team, but with Curator vacancy and William (Bill) Oetting
|
HPS5
Hermansky-Pudlak syndrome 5
607521
|
Hermansky-Pudlak syndrome 5 (HPS5)
http://www.LOVD.nl/HPS5
|
LOVD-team, but with Curator vacancy and William (Bill) Oetting
|
HPS6
Hermansky-Pudlak syndrome 6
607522
|
Hermansky-Pudlak syndrome 6 (HPS6)
http://www.LOVD.nl/HPS5
|
LOVD-team, but with Curator vacancy and William (Bill) Oetting
|
HPSE2
heparanase 2
613469
|
heparanase 2 (HPSE2)
http://www.LOVD.nl/HPSE2
|
LOVD-Team, but with (acting), Curator vacancy
|
HS6ST2
heparan sulfate 6-O-sulfotransferase 2
300545
|
HS6ST2 database at LOVD
http://www.LOVD.nl/HS6ST2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HSD17B10
hydroxysteroid (17-beta) dehydrogenase 10
300256
|
HSD17B10 database at LOVD
http://www.LOVD.nl/HSD17B10
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HSD17B10
hydroxysteroid (17-beta) dehydrogenase 10
300256
|
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=HSD17B10
|
Johannes Zschocke, Barbara Lanthaler and Martina Witsch-Baumgartner
|
HSD17B3
hydroxysteroid (17-beta) dehydrogenase 3
605573
|
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://databases.lovd.nl/genomed/home.php?select_db=HSD17B3
|
Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei
|
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
601860
|
LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/HSD17B4
|
LOVD-team, but with Curator vacancy
|
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
613890
|
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://databases.lovd.nl/genomed/home.php?select_db=HSD3B2
|
Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei
|
HSF4
heat shock transcription factor 4
602438
|
HSF4 database at LOVD
http://www.LOVD.nl/HSF4
|
Johan T den Dunnen Leiden Univ. Med Centre
|
HSPB1
heat shock 27kDa protein 1
602195
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
HSPB8
heat shock 22kDa protein 8
608014
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
HTATSF1
HIV-1 Tat specific factor 1
300346
|
HTATSF1 database at LOVD
http://www.LOVD.nl/HTATSF1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HTR2C
5-hydroxytryptamine (serotonin) receptor 2C
312861
|
HTR2C database at LOVD
http://www.LOVD.nl/HTR2C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
182139
|
HTR3A database at Heidelberg University
http://www.LOVD.nl/HTR3A
|
Dr. Beate Niesler, Heidelberg University
|
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
182139
|
HTR3A database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=HTR3A
|
Steffi Wilke and Dr. Beate Niesler, Heidelberg University
|
HTR3B
5-hydroxytryptamine (serotonin) receptor 3B, ionotropic
604654
|
HTR3B database at Heidelberg University
http://www.LOVD.nl/HTR3B
|
Dr. Beate Niesler, Heidelberg University
|
HTR3C
5-hydroxytryptamine (serotonin) receptor 3C, ionotropic
610121
|
HTR3C database at Heidelberg University
http://www.LOVD.nl/HTR3C
|
Dr. Beate Niesler, Heidelberg University
|
HTR3D
5-hydroxytryptamine (serotonin) receptor 3D, ionotropic
610122
|
HTR3D database at Heidelberg University
http://www.LOVD.nl/HTR3D
|
Dr. Beate Niesler, Heidelberg University
|
HTR3E
5-hydroxytryptamine (serotonin) receptor 3E, ionotropic
610123
|
HTR3E database at Heidelberg University
http://www.LOVD.nl/HTR3E
|
Dr. Beate Niesler, Heidelberg University
|
HTRA2
HtrA serine peptidase 2
606441
|
PD Mutation Database
https://reseq.biosciencedbc.jp/resequence/GeneDetail.do?targetId=2&geneId=EG27429
|
Tokyo Univ. Hosp., Tokyo Univ., and Hitachi Ltd.
|
HTT
huntingtin
613004
|
Mendelian genes
http://www.LOVD.nl/HTT
|
Willeke van Roon-Mom
|
HUWE1
HECT, UBA and WWE domain containing 1
300697
|
HUWE1 database at LOVD
http://www.LOVD.nl/HUWE1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
|
Go Back To Main Index!
|
ICAM4
intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)
111250
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine,
New York, NY. U.S.A
|
ICOS
inducible T-cell co-stimulator
604558
|
ICOSbase: Mutation registry for ICOS deficiency
http://bioinf.uta.fi/ICOSbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IDS
iduronate 2-sulfatase
309900
|
IDS database at LOVD
http://www.LOVD.nl/IDS
|
Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IDUA
iduronidase, alpha-L-
252800
|
Mendelian genes (IDUA)
http://www.LOVD.nl/IDUA
|
Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IFITM5
interferon induced transmembrane protein 5
614757
|
Osteogenesis Imperfecta Variant Database (IFITM5)
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish
|
IFNGR1
interferon gamma receptor 1
107470
|
IFNGR1base: Mutation registry for IFNγ1-receptor deficiency
http://bioinf.uta.fi/IFNGR1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IFNGR1
interferon gamma receptor 1
107470
|
Mendelian genes (IFNGR1)
http://www.LOVD.nl/IFNGR1
|
Esther van de Vosse Leiden Univ. Med Centre
|
IFNGR2
interferon gamma receptor 2 (interferon gamma transducer 1)
147569
|
IFNGR2base: Mutation registry for IFNγ2-receptor deficiency
http://bioinf.uta.fi/IFNGR2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IFNGR2
interferon gamma receptor 2 (interferon gamma transducer 1)
147569
|
Mendelian genes (IFNGR2)
http://www.LOVD.nl/IFNGR2
|
Esther van de Vosse
|
IFT122
intraflagellar transport 122 homolog (Chlamydomonas)
606045
|
Mendelian genes (IFT122)
http://www.LOVD.nl/IFT122
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IGBP1
immunoglobulin (CD79A) binding protein 1
300139
|
IGBP1 database at LOVD
http://www.LOVD.nl/IGBP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IGF1
insulin-like growth factor 1 (somatomedin C)
147440
|
LOVD growth
http://www.LOVD.nl/IGF1
|
Jan Maarten Wit and Marie-Jose Walenkamp
|
IGF1R
insulin-like growth factor 1 receptor
147370
|
LOVD growth
http://www.LOVD.nl/IGF1R
|
Roland Pfaeffle and Wieland Kiess
|
IGF2
insulin-like growth factor 2 (somatomedin A)
147470
|
LOVD growth
http://www.LOVD.nl/IGF2
|
Irene Netchine and Yves le Bouc
|
IGFALS
insulin-like growth factor binding protein, acid labile subunit
601489
|
IGFALS database at LOVD
http://www.LOVD.nl/IGFALS
|
H Jasper and HM Domené
|
IGHC
Immunoglobulin heavy constant group
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGHD
immunoglobulin heavy constant delta
147170
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGHG2
immunoglobulin heavy constant gamma 2 (G2m marker)
147110
|
IGHG2base: Mutation registry for IgG2 deficiency
http://bioinf.uta.fi/IGHG2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IGHJ2
immunoglobulin heavy joining 2
147010
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGHM
immunoglobulin heavy constant mu
147020
|
IGHMbase: Mutation registry for µ heavy-chain deficiency
http://bioinf.uta.fi/IGHMbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IGHMBP2
immunoglobulin mu binding protein 2
600502
|
LOVD 3.0 shared installation (IGHMBP2)
http://databases.lovd.nl/shared/genes/IGHMBP2
|
LOVD-team, but with Curator vacancy
|
IGHMBP2
immunoglobulin mu binding protein 2
600502
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
IGHMBP2
immunoglobulin mu binding protein 2
600502
|
Leiden Muscular Dystrophy pages (IGHMBP2)
http://www.LOVD.nl/IGHMBP2
|
Jorge Oliveira
|
IGHV@
immunoglobulin heavy variable group
147070
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGKC
immunoglobulin kappa constant
147200
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGKJ@
immunoglobulin kappa joining group
146970
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGKV@
immunoglobulin kappa variable group
146980
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGLC1
immunoglobulin lambda constant 1 (Mcg marker)
147220
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGLJ@
immunoglobulin lambda joining group
147230
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGLL1
immunoglobulin lambda-like polypeptide 1
146770
|
IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency
http://bioinf.uta.fi/IGLL1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IGLV@
immunoglobulin lambda variable group
147240
|
IMGT; the international ImMunoGeneTics information system ®
http://imgt.org
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
|
IGSF1
immunoglobulin superfamily, member 1
300137
|
IGSF1 database at LOVD
http://www.LOVD.nl/IGSF1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IKBKAP
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
603722
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
IKBKAP
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
603722
|
LOVD 3.0 shared installation (IKBKAP)
http://databases.lovd.nl/shared/genes/IKBKAP
|
LOVD-team, but with Curator vacancy
|
IKBKAP
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-
603722
|
Leiden Muscular Dystrophy pages (IKBKAP)
http://www.dmd.nl/nmdb2/home.php?select_db=IKBKAP
|
Johan den Dunnen
|
IKBKG
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
300248
|
IKBKGbase: Mutation registry for Nemo deficiency
http://bioinf.uta.fi/IKBKGbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IKBKG
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
300248
|
Mendelian genes IKBKG)
http://www.LOVD.nl/IKBKG
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IL12B
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
161561
|
IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
http://bioinf.uta.fi/IL12Bbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IL12B
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
161561
|
Mendelian genes (IL12B)
http://www.LOVD.nl/IL12B
|
Esther van de Vosse
|
IL12RB1
interleukin 12 receptor, beta 1
601604
|
IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency
http://bioinf.uta.fi/IL12RB1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IL12RB1
interleukin 12 receptor, beta 1
601604
|
Mendelian genes (IL12RB1)
http://www.LOVD.nl/IL12RB1
|
Esther van de Vosse
|
IL13RA1
interleukin 13 receptor, alpha 1
300119
|
IL13RA1 database at LOVD
http://www.LOVD.nl/IL13RA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IL13RA2
interleukin 13 receptor, alpha 2
300130
|
IL13RA2 database at LOVD
http://www.LOVD.nl/IL13RA2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
300206
|
IL1RAPL1 database at LOVD
http://www.LOVD.nl/IL1RAPL1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
300206
|
LOVD 3.0 shared installation (IL1RAPL1)
http://databases.lovd.nl/shared/genes/IL1RAPL1
|
LOVD-team, but with Curator vacancy
|
IL1RAPL2
interleukin 1 receptor accessory protein-like 2
300277
|
IL1RAPL2 database at LOVD
http://www.LOVD.nl/IL1RAPL2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IL2RA
interleukin 2 receptor, alpha
147730
|
IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency
http://bioinf.uta.fi/IL2RAbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IL2RG
interleukin 2 receptor, gamma
308380
|
X-Linked Severe Combined Immuno deficiency SCID
http://research.nhgri.nih.gov/apps/scid/IL2RGbase.shtml
|
Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda
|
IL2RG
interleukin 2 receptor, gamma
308380
|
CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=IL2RG
|
Ammar Husami and Theru A. Sivakumaran
|
IL2RG
interleukin 2 receptor, gamma
308380
|
X-chromosome gene database
http://www.LOVD.nl/IL2RG
|
LOVD-team, but with Curator vacancy
|
IL2RG
interleukin 2 receptor, gamma
308380
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=IL2RG
|
Ammar Husami
|
IL7R
interleukin 7 receptor
146661
|
IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency
http://bioinf.uta.fi/IL7Rbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IL9R
interleukin 9 receptor
300007
|
IL9R database at LOVD
http://www.LOVD.nl/IL9R
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IMPDH1
IMP (inosine monophosphate) dehydrogenase 1
146690
|
Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene
http://www.retina-international.org/files/sci-news/impdhmut.htm
|
Retina International
|
IMPDH1
IMP (inosine 5'-monophosphate) dehydrogenase 1
146690
|
Eye diseases - LOVD
http://www.LOVD.nl/IMPDH1
|
LOVD-team, but with Curator vacancy
|
IMPG2
interphotoreceptor matrix proteoglycan 2
607056
|
Eye diseases - LOVD
http://www.LOVD.nl/IMPG2
|
Jacopo Celli
|
INE1
inactivation escape 1 (non-protein coding)
300164
|
INE1 database at LOVD
http://www.LOVD.nl/INE1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
INVS
inversin
243305
|
LOVD 3.0 database (INVS)
http://www.LOVD.nl/INVS
|
LOVD-team, but with Curator vacancy
|
IQCB1
IQ motif containing B1
609237
|
Leiden Open Variation Database (IQCB1)
http://www.LOVD.nl/IQCB1
|
LOVD-Team, but with Curator vacancy
|
IQSEC2
IQ motif and Sec7 domain 2
300522
|
IQSEC2 database at LOVD
http://www.LOVD.nl/IQSEC2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IRAK1
interleukin-1 receptor-associated kinase 1
300283
|
IRAK1 database at LOVD
http://www.LOVD.nl/IRAK1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IRAK4
interleukin-1 receptor-associated kinase 4
606883
|
IRAK4base: Mutation registry for IRAK4 deficiency
http://bioinf.uta.fi/IRAK4base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
IRGM
immunity-related GTPase family, M
608212
|
Mendelian genes (IRGM)
http://www.LOVD.nl/IRGM
|
LOVD-Team, but with Curator vacancy
|
IRS4
insulin receptor substrate 4
603510
|
IRS4 database at LOVD
http://www.LOVD.nl/IRS4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
IRX5
iroquois homeobox 5
606195
|
LOVD - Leiden Open Variation Database (IRX5)
http://www.LOVD.nl/IRX5
|
LOVD-Team, but with Curator vacancy
|
ISCU
iron-sulfur cluster scaffold homolog (E. coli)
611911
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ISCU
|
Johan T den Dunnen Leiden Univ. Med Centre
|
ISPD
isoprenoid synthase domain containing
614631
|
Leiden Muscular Dystrophy pages (ISPD)
http://www.LOVD.nl/ISPD
|
Johan T den Dunnen Leiden Univ. Med Centre
|
ITGA2B
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
607759
|
Glanzmann Thrombasthenia Database (GPIIb)
http://sinaicentral.mssm.edu/intranet/research/glanzmann/menu
|
Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A.
|
ITGA7
integrin, alpha 7
600536
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ITGA7
|
Johan T den Dunnen Leiden Univ. Med Centre
|
ITGB2
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
600065
|
ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
http://bioinf.uta.fi/ITGB2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
ITGB2
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
600065
|
Mendelian genes (ITGB2)
http://www.LOVD.nl/ITGB2
|
LOVD-Team, but with Curator vacancy
|
ITGB3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
173470
|
Glanzmann Thrombasthenia Database (GPIIIa)
http://sinaicentral.mssm.edu/intranet/research/glanzmann/menu
|
Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A.
|
ITIH6
inter-alpha-trypsin inhibitor heavy chain family, member 6
|
ITIH6 database at LOVD
http://www.LOVD.nl/ITIH6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ITM2A
integral membrane protein 2A
300222
|
ITM2A database at LOVD
http://www.LOVD.nl/ITM2A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
ITM2A
integral membrane protein 2A
300222
|
X-chromosome gene database (ITM2A)
http://www.LOVD.nl/ITM2A
|
LOVD-Team, but with Curator vacancy
|
IVD
isovaleryl-CoA dehydrogenase
607036
|
LOVD 3.0 shared installation (IVD)
http://www.LOVD.nl/IVD
|
Ivo F.A.C. Fokkema, Leiden Univ. Med Centre
|
|
Go Back To Main Index!
|
JAG1
jagged 1
601920
|
CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=JAG1
|
Ammar Husami and Theru A. Sivakumaran
|
JAG1
jagged 1
601920
|
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://databases.lovd.nl/genomed/home.php?select_db=JAG1
|
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan
|
JAG1
jagged 1
601920
|
LOVD 3.0 shared installation (JAG1)
http://databases.lovd.nl/shared/genes/JAG1
|
LOVD-Team, but with Curator vacancy
|
JAK2
Janus kinase 2
147796
|
Mendelian genes Janus kinase 2 (JAK2)
http://www.LOVD.nl/JAK2
|
LOVD-Team, but with Curator vacancy
|
JAK3
Janus kinase 3
600173
|
JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
http://bioinf.uta.fi/JAK3base/
|
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
JAK3
Janus kinase 3
600173
|
LOVD 3.0 shared installation (JAK3)
http://databases.lovd.nl/shared/genes/JAK3
|
LOVD-Team, but with Curator vacancy
|
JUP
junction plakoglobin
173325
|
Gene Connection for the Heart; Naxos disease database
http://www.fsm.it/cardmoc/
|
S.G. N. Protonotarios, Naxos, Greece & C. Napolitano, Pavia, Italy
|
JUP
junction plakoglobin
173325
|
ARVD/C Genes Variants Database
http://www.arvcdatabase.info
|
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
|
JUP
junction plakoglobin
173325
|
ARVD/C Genetic Variants Database (JUP)
http://www.LOVD.nl/JUP
|
Paul van der Zwaag
|
|
Go Back To Main Index!
|
KAL1
Kallmann syndrome 1 sequence
308700
|
KAL1 database at LOVD
http://www.LOVD.nl/KAL1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KANSL1
KAT8 regulatory NSL complex subunit 1
612452
|
LOVD - Leiden Open Variation Database (KANSL1)
http://www.LOVD.nl/KANSL1
|
Giuseppe Marangi
|
KAT6B
K(lysine) acetyltransferase 6B
605880
|
Baylor College of Medicine (KAT6B)
http://www.LOVD.nl/KAT6B
|
Philippe Campeau
|
KBTBD13
kelch repeat and BTB (POZ) domain containing 13
613727
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/KBTBD13
|
Johan T den Dunnen Leiden Univ. Med Centre
|
KCND1
potassium voltage-gated channel, Shal-related subfamily, member 1
300281
|
KCND1 database at LOVD
http://www.LOVD.nl/KCND1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1
176261
|
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm
|
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1
176261
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1
176261
|
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://databases.lovd.nl/genomed/home.php?select_db=KCNE1
|
Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang
|
KCNE1
potassium voltage-gated channel, Isk-related family, member 1
176261
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=KCNE1
|
Ammar Husami and Theru A. Sivakumaran
|
KCNE1L
KCNE1-like
300328
|
KCNE1L database at LOVD
http://www.LOVD.nl/KCNE1L
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KCNE2
potassium voltage-gated channel, Isk-related family, member 2
603796
|
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm
|
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen,
Molecular Cardiology grp,
Statens Serum Institut,
Copenhagen, Denmark
|
KCNE2
potassium voltage-gated channel, Isk-related family, member 2
603796
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
KCNE2
potassium voltage-gated channel, Isk-related family, member 2
603796
|
Zhejiang University-Adinovo Center KCNE2 Database
http://databases.lovd.nl/genomed/home.php?select_db=KCNE2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
KCNH2
potassium voltage-gated channel, subfamily H (eag-related), member 2
152427
|
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm
|
Michael Christiansen,
Lars A. Larsen,
Paal Skytt Andersen,
Molecular Cardiology grp,
Statens Serum Institut,
Copenhagen, Denmark
|
KCNH2
potassium voltage-gated channel, subfamily H (eag-related), member 2
152427
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
KCNH2
potassium voltage-gated channel, subfamily H (eag-related), member 2
152427
|
Zhejiang University-Adinovo Center KCNH2 Database
http://databases.lovd.nl/genomed/home.php?select_db=KCNH2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
KCNJ2
potassium inwardly-rectifying channel, subfamily J, member 2
600681
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
KCNJ2
potassium inwardly-rectifying channel, subfamily J, member 2
600681
|
Zhejiang University-Adinovo Center KCNJ2 Database
http://databases.lovd.nl/genomed/home.php?select_db=KCNJ2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1
607542
|
Long QT Syndrome Database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm
|
Michael Christiansen,
Lars A. Larsen,
Paal Skytt Andersen,
Molecular Cardiology grp,
Statens Serum Institut,
Copenhagen, Denmark
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1
607542
|
Gene Connection for the Heart
http://www.fsm.it/cardmoc/
|
S.G. Priori, P.J. Schwartz, Pavia, Italy
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1
607542
|
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://databases.lovd.nl/genomed/home.php?select_db=KCNQ1
|
Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang
|
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1
607542
|
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=KCNQ1
|
Ammar Husami and Theru A. Sivakumaran
|
KDM5C
lysine (K)-specific demethylase 5C
314690
|
KDM5C database at LOVD
http://www.LOVD.nl/KDM5C
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KDM6A
lysine (K)-specific demethylase 6A
300128
|
KDM6A database at LOVD
http://www.LOVD.nl/KDM6A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KDR
kinase insert domain receptor (a type III receptor tyrosine kinase)
191306
|
Kinase insert domain receptor (KDR) database
http://lovd.bx.psu.edu/home.php?select_db=KDR
|
Belinda Giardine and Joseph Borg
|
KEL
Kell blood group, metallo-endopeptidase
110900
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
|
KIAA2022
KIAA2022
300524
|
KIAA2022 database at LOVD
http://www.LOVD.nl/KIAA2022
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KIF1B
kinesin family member 1B
605995
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
KIF4A
kinesin family member 4A
300521
|
KIF4A database at LOVD
http://www.LOVD.nl/KIF4A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KIR2DL1
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
604936
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DL2
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
604937
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DL3
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
604938
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DL4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
604945
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DL5A
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
605305
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DL5B
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
605305
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DP1
killer cell immunoglobulin-like receptor, two domains, pseudogene 1
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DS1
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
604952
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DS2
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
604953
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DS3
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
604954
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DS4
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
604955
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR2DS5
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
604956
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR3DL1
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
604946
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR3DL2
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
604947
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR3DL3
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
610095
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR3DP1
killer cell immunoglobulin-like receptor, three domains, pseudogene 1
610604
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KIR3DS1
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
604946
|
IPD-KIR Database
http://www.ebi.ac.uk/ipd/kir/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
KL
klotho
604824
|
Klotho (KL) database
http://lovd.bx.psu.edu/home.php?select_db=KL
|
Belinda Giardine and Joseph Borg
|
KLF1
Kruppel-like factor 1 (erythroid)
600599
|
The Globin Gene Server
http://www.LOVD.nl/KLF1
|
Belinda Giardine and Joseph Borg
|
KLHL13
kelch-like 13 (Drosophila)
300655
|
KLHL13 database at LOVD
http://www.LOVD.nl/KLHL13
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KLHL15
kelch-like 15 (Drosophila)
|
KLHL15 database at LOVD
http://www.LOVD.nl/KLHL15
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KLHL4
kelch-like 4 (Drosophila)
300348
|
KLHL4 database at LOVD
http://www.LOVD.nl/KLHL4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
190070
|
Mendelian genes (KRAS)
http://www.LOVD.nl/KRAS
|
Etienne Rouleau
|
|
Go Back To Main Index!
|
L1CAM
L1 cell adhesion molecule
308840
|
L1CAM Mutation Web Page
http://www.l1cammutationdatabase.info
|
Yvonne Vos
Department of clinical genetics,
University Medical Center Groningen,
Groningen , The Netherlands
|
L1CAM
L1 cell adhesion molecule
308840
|
NGRL, Manchester L1CAM database
http://ngrl.man.ac.uk/lovd2/home.php?select_db=L1CAM
|
Bharathi Kattamuri and Simon Ramsden
|
L1CAM
L1 cell adhesion molecule
308840
|
L1 cell adhesion molecule (L1CAM) database at LOVD
http://www.LOVD.nl/L1CAM
|
Yvonne Vos, Department of Genetics University Medical Center Groningen,The Netherlands
|
L2HGDH
L-2-hydroxyglutarate dehydrogenase
609584
|
L-2-hydroxyglutarate dehydrogenase (L2HGDH) at LOVD
http://www.LOVD.nl/L2HGDH
|
Gajja Salomons
|
LAMA2
laminin, alpha 2
156225
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/LAMA2
|
Johan T. den Dunnen,
Leiden Univ. Med Centre,
Leiden, The Netherlands
|
LAMP2
lysosomal-associated membrane protein 2
309060
|
LAMP2 database at LOVD
http://www.LOVD.nl/LAMP2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LANCL3
LanC lantibiotic synthetase component C-like 3 (bacterial)
|
LANCL3 database at LOVD
http://www.LOVD.nl/LANCL3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LARGE
like-glycosyltransferase
603590
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/LARGE
|
Johan den Dunnen, LUMC, Leiden, Nederland
|
LAS1L
LAS1-like (S. cerevisiae)
|
LAS1L database at LOVD
http://www.LOVD.nl/LAS1L
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LDB3
LIM domain binding 3
605906
|
LDB3 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/LDB3
|
Johan den Dunnen and Montse Olivé
|
LDLR
low density lipoprotein receptor
606945
|
Hypercholesterolemia, Familial
http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
|
Sarah Leigh, Dept. of Medicine, UCL
|
LDLR
low density lipoprotein receptor
606945
|
UMD Locus Specific Databases
http://www.umd.be/LDLR/
|
M. Varret, C. Boileau, INSERM,Hopital Necker, Enfants Malades,Paris
|
LDLRAP1
low density lipoprotein receptor adaptor protein 1
605747
|
Leiden Muscular Dystrophy pages
http://www.ucl.ac.uk/ldlr/Current/index.php?select_db=LDLRAP1
|
Sarah Leigh
|
LEPRE1
leucine proline-enriched proteoglycan (leprecan) 1
610339
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
LHFPL1
lipoma HMGIC fusion partner-like 1
300566
|
LHFPL1 database at LOVD
http://www.LOVD.nl/LHFPL1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LIG1
ligase I, DNA, ATP-dependent
126391
|
LIG1base: Mutation registry for DNA ligase I deficiency
http://bioinf.uta.fi/LIG1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
LIG4
ligase IV, DNA, ATP-dependent
601837
|
LIG4base: Mutation registry for LIG4 syndrome
http://bioinf.uta.fi/LIG4base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
LIM2
lens intrinsic membrane protein 2, 19kDa
154045
|
LIM2 database at LOVD
http://www.LOVD.nl/LIM2
|
Johan T den Dunnen Leiden Univ. Med Centre
|
LITAF
lipopolysaccharide-induced TNF factor
603795
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
|
LMBRD1
LMBR1 domain containing 1
612625
|
Zhejiang University Center for Genetic and Genomic Medicine - LMBRD1
http://databases.lovd.nl/genomed/home.php?select_db=LMBRD1
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
LMNA
lamin A/C
150330
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
|
LMNA
lamin A/C
150330
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/LMNA
|
Johan T. den Dunnen
Leiden Univ. Medical Centre
Leiden, Netherlands
|
LMNA
lamin A/C
150330
|
The LMNA mutations database
http://www.umd.be/LMNA/
|
G. Bonne, France
|
LONRF3
LON peptidase N-terminal domain and ring finger 3
|
LONRF3 database at LOVD
http://www.LOVD.nl/LONRF3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LPAR4
lysophosphatidic acid receptor 4
300086
|
LPAR4 database at LOVD
http://www.LOVD.nl/LPAR4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LPIN2
lipin 2
605519
|
INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Hatem El-Shanti, Paediatrics, Jordan University of Science and Technology, Amman, Jordan
|
LRAT
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
604863
|
Mutations of the Lecithin Retinol Acyltransferase Gene
http://www.retina-international.org/files/sci-news/lratmut.htm
|
Retina International
|
LRCH2
leucine-rich repeats and calponin homology (CH) domain containing 2
|
LRCH2 database at LOVD
http://www.LOVD.nl/LRCH2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LRP5
low density lipoprotein receptor-related protein 5
603506
|
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/LRP5
|
Wim van Hul
|
LRRC8A
leucine rich repeat containing 8 family, member A
608360
|
LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia
http://bioinf.uta.fi/LRRC8Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
LRRK2
leucine-rich repeat kinase 2
609007
|
LRRK2 Parkinson's disease Mutation Database
http://www.LOVD.nl/LRRK2
|
The Parkinson's Institute
|
LUZP4
leucine zipper protein 4
300616
|
LUZP4 database at LOVD
http://www.LOVD.nl/LUZP4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
LYST
lysosomal trafficking regulator
606897
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting
Int. Albinism Centre
Univ. of Minnesota, U.S.A.
|
LYST
lysosomal trafficking regulator
606897
|
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
http://bioinf.uta.fi/LYSTbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
LYST
lysosomal trafficking regulator
606897
|
Mutations of the Chediak Higashi Syndrome
http://www.retina-international.org/files/sci-news/chsmut.htm
|
Retina International
|
|
Go Back To Main Index!
|
MAF
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
177075
|
MAF database at LOVD
http://www.LOVD.nl/MAF
|
Johan T den Dunnen Leiden Univ. Med Centre
|
MAGEA1
melanoma antigen family A, 1 (directs expression of antigen MZ2-E)
300016
|
MAGEA1 database at LOVD
http://www.LOVD.nl/MAGEA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA11
melanoma antigen family A, 11
300344
|
MAGEA11 database at LOVD
http://www.LOVD.nl/MAGEA11
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA12
melanoma antigen family A, 12
300177
|
MAGEA12 database at LOVD
http://www.LOVD.nl/MAGEA12
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA3
melanoma antigen family A, 3
300174
|
MAGEA3 database at LOVD
http://www.LOVD.nl/MAGEA3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA4
melanoma antigen family A, 4
300175
|
MAGEA4 database at LOVD
http://www.LOVD.nl/MAGEA4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA5
melanoma antigen family A, 5
300340
|
MAGEA5 database at LOVD
http://www.LOVD.nl/MAGEA5
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEA8
melanoma antigen family A, 8
300341
|
MAGEA8 database at LOVD
http://www.LOVD.nl/MAGEA8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB1
melanoma antigen family B, 1
300097
|
MAGEB1 database at LOVD
http://www.LOVD.nl/MAGEB1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB10
melanoma antigen family B, 10
300761
|
MAGEB10 database at LOVD
http://www.LOVD.nl/MAGEB10
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB18
melanoma antigen family B, 18
|
MAGEB18 database at LOVD
http://www.LOVD.nl/MAGEB18
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB2
melanoma antigen family B, 2
300098
|
MAGEB2 database at LOVD
http://www.LOVD.nl/MAGEB2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB3
melanoma antigen family B, 3
300152
|
MAGEB3 database at LOVD
http://www.LOVD.nl/MAGEB3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB4
melanoma antigen family B, 4
300153
|
MAGEB4 database at LOVD
http://www.LOVD.nl/MAGEB4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB5
melanoma antigen family B, 5
300466
|
MAGEB5 database at LOVD
http://www.LOVD.nl/MAGEB5
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEB6
melanoma antigen family B, 6
300467
|
MAGEB6 database at LOVD
http://www.LOVD.nl/MAGEB6
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEC1
melanoma antigen family C, 1
300223
|
MAGEC1 database at LOVD
http://www.LOVD.nl/MAGEC1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEC2
melanoma antigen family C, 2
300468
|
MAGEC2 database at LOVD
http://www.LOVD.nl/MAGEC2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEC3
melanoma antigen family C, 3
300469
|
MAGEC3 database at LOVD
http://www.LOVD.nl/MAGEC3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGED1
melanoma antigen family D, 1
300224
|
MAGED1 database at LOVD
http://www.LOVD.nl/MAGED1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGED2
melanoma antigen family D, 2
300470
|
MAGED2 database at LOVD
http://www.LOVD.nl/MAGED2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEE1
melanoma antigen family E, 1
300759
|
MAGEE1 database at LOVD
http://www.LOVD.nl/MAGEE1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEE2
melanoma antigen family E, 2
300760
|
MAGEE2 database at LOVD
http://www.LOVD.nl/MAGEE2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGEH1
melanoma antigen family H, 1
300548
|
MAGEH1 database at LOVD
http://www.LOVD.nl/MAGEH1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAGT1
magnesium transporter 1
300715
|
MAGT1 database at LOVD
http://www.LOVD.nl/MAGT1
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAMLD1
mastermind-like domain containing 1
300120
|
MAMLD1 database at LOVD
http://www.LOVD.nl/MAMLD1
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAOA
monoamine oxidase A
309850
|
MAOA database at LOVD
http://www.LOVD.nl/MAOA
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAOB
monoamine oxidase B
309860
|
MAOB database at LOVD
http://www.LOVD.nl/MAOB
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAP2K1
mitogen-activated protein kinase kinase 1
176872
|
Mitogen-activated protein kinase kinase 1 (MAP2K1) database
http://lovd.bx.psu.edu/home.php?select_db=MAP2K1
|
Belinda Giardine and Joseph Borg
|
MAP3K15
mitogen-activated protein kinase kinase kinase 15
|
MAP3K15 database at LOVD
http://www.LOVD.nl/MAP3K15
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAP3K5
mitogen-activated protein kinase kinase kinase 5
602448
|
Mitogen-activated protein kinase kinase kinase 5 (MAP3K5) database
http://lovd.bx.psu.edu/home.php?select_db=MAP3K5
|
Belinda Giardine and Joseph Borg
|
MAP3K7
mitogen-activated protein kinase kinase kinase 7
602614
|
Mitogen-activated protein kinase kinase kinase 7 (MAP3K7)
http://lovd.bx.psu.edu/home.php?select_db=MAP3K7
|
Belinda Giardine and Joseph Borg
|
MAP7D2
MAP7 domain containing 2
|
MAP7D2 database at LOVD
http://www.LOVD.nl/MAP7D2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAP7D3
MAP7 domain containing 3
|
MAP7D3 database at LOVD
http://www.LOVD.nl/MAP7D3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MAPT
microtubule-associated protein tau
157140
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/FTDMutations/
|
Marc Cruts and Nathalie Brouwers, Neurogenerative Brain Diseases Group, VIB Department of Molecular Genetics, Flanders Institute for Biotechnology and, University of Antwerp - Campus CDE, Belgium
|
MASP2
mannan-binding lectin serine peptidase 2
605102
|
MASP2base: Mutation registry for MASP-2 deficiency
http://bioinf.uta.fi/MASP2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
MATR3
matrin 3
164015
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/MATR3
|
Johan T den Dunnen Leiden Univ. Med Centre
|
MBNL3
muscleblind-like 3 (Drosophila)
300413
|
MBNL3 database at LOVD
http://www.LOVD.nl/MBNL3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MBTPS2
membrane-bound transcription factor peptidase, site 2
300294
|
Membrane-Bound Transcription factor Peptidase, site 2 (MBTPS2) Mental Retardation Database
http://www.LOVD.nl/MBTPS2
|
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands
|
MCEE
methylmalonyl CoA epimerase
608419
|
Zhejiang University Center for Genetic and Genomic Medicine - MCEE
http://databases.lovd.nl/genomed/home.php?select_db=MCEE
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MCF2
MCF.2 cell line derived transforming sequence
311030
|
MCF2 database at LOVD
http://www.LOVD.nl/MCF2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MECP2
methyl CpG binding protein 2 (Rett syndrome)
300005
|
RettBASE
http://mecp2.chw.edu.au/
|
John Christodoulou, Andrew Grimm
Children's Hospital, Westmead, Sydney, Australia
|
MECP2
methyl CpG binding protein 2 (Rett syndrome)
300005
|
MECP2 database at LOVD
http://www.LOVD.nl/MECP2
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MECP2
methyl CpG binding protein 2 (Rett syndrome)
300005
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=MECP2
|
Ammar Husami and Theru A. Sivakumaran
|
MED12
mediator complex subunit 12
300188
|
MED12 database at LOVD
http://www.LOVD.nl/MED12
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MED14
mediator complex subunit 14
300182
|
MED14 database at LOVD
http://www.LOVD.nl/MED14
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MEFV
Mediterranean fever
608107
|
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Isabelle Touitou,
Laboratory of Genetics,
A de Villeneuve Hospital,
Montpellier, France
|
MEN1
multiple endocrine neoplasia I
613733
|
The UMD MEN1 mutations database
http://www.umd.be/MEN1/
|
Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France
|
MEN1
multiple endocrine neoplasia I
613733
|
Multiple endocrine neoplasia and MEN1 missense variants Database
http://www.arup.utah.edu/database/MEN1/MEN1_welcome.php
|
Kelli Sumner, University of Utah, ARUP Laboratories
|
MERTK
c-mer proto-oncogene tyrosine kinase
604705
|
Mutations of the MER Receptor Tyrosine Kinase Gene
http://www.retina-international.org/files/sci-news/mertkmut.htm
|
Retina International
|
MFN2
mitofusin 2
608507
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
|
MFSD8
major facilitator superfamily domain containing 8
611124
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole
MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
MGAT2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
602616
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics, Leuven, Belgium
|
MICA
MHC class I polypeptide-related sequence A
600169
|
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
MICB
MHC class I polypeptide-related sequence B
602436
|
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/
|
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
|
MID1
midline 1 (Opitz/BBB syndrome)
300552
|
MID1 database at LOVD
http://www.LOVD.nl/MID1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MID2
midline 2
300204
|
MID2 database at LOVD
http://www.LOVD.nl/MID2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MITF
microphthalmia-associated transcription factor
156845
|
MITF database at LOVD
http://www.LOVD.nl/MITF
|
Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
|
MKKS
McKusick-Kaufman syndrome
604896
|
Mutations of the McKusick-Kaufman Gene
http://www.retina-international.org/files/sci-news/mkksmut.htm
|
Retina International
|
MKKS
McKusick-Kaufman syndrome
604896
|
EURO-WABB Project Open Variation Database
http://www.euro-wabb.org/en/lovd-genetic-variation-database
|
Dewi Astuti
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
120436
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
120436
|
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/
|
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
120436
|
Zhejiang University-Adinovo Center MLH1 Database
http://databases.lovd.nl/genomed/home.php?select_db=MLH1
|
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
|
MLH3
mutL homolog 3 (E. coli)
604395
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
|
MLH3
mutL homolog 3 (E. coli)
604395
|
Zhejiang University-Adinovo Center MLH3 Database
http://databases.lovd.nl/genomed/home.php?select_db=MLH3
|
Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
|
MLPH
melanophilin
606526
|
MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)
http://bioinf.uta.fi/MLPHbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
MLYCD
malonyl-CoA decarboxylase
606761
|
MLYCD Allelic Variant Database
http://mlycd.hgu.mrc.ac.uk/
|
Graeme Grimes & Isabel Hanson, MRC Human Genetics Unit, Edinburg, UK
|
MMAA
methylmalonic aciduria (cobalamin deficiency) cblA type
607481
|
Zhejiang University Center for Genetic and Genomic Medicine - MMAA
http://databases.lovd.nl/genomed/home.php?select_db=MMAA
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MMAB
methylmalonic aciduria (cobalamin deficiency) cblB type
607568
|
Zhejiang University Center for Genetic and Genomic Medicine - MMAB
http://databases.lovd.nl/genomed/home.php?select_db=MMAB
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
609831
|
Zhejiang University Center for Genetic and Genomic Medicine - MMACHC
http://databases.lovd.nl/genomed/home.php?select_db=MMACHC
|
Ming Qi, PhD, FACMG
|
MMADHC
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
611935
|
Zhejiang University Center for Genetic and Genomic Medicine - MMADHC
http://databases.lovd.nl/genomed/home.php?select_db=MMADHC
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MOGS
mannosyl-oligosaccharide glucosidase
601336
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics, Leuven, Belgium
|
MORC4
MORC family CW-type zinc finger 4
|
MORC4 database at LOVD
http://www.LOVD.nl/MORC4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MOSPD2
motile sperm domain containing 2
|
MOSPD2 database at LOVD
http://www.LOVD.nl/MOSPD2
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MPDU1
mannose-P-dolichol utilization defect 1
604041
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
MPI
mannose phosphate isomerase
154550
|
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics, Leuven, Belgium
|
MPL
myeloproliferative leukemia virus oncogene
159530
|
Mendelian genes (MPL2)
http://www.LOVD.nl/MPL
|
Mathias Vilaine, Nantes, France
|
MPO
myeloperoxidase
606989
|
MPObase: Mutation registry for Myeloperoxidase deficiency
http://bioinf.uta.fi/MPObase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
MPP1
membrane protein, palmitoylated 1, 55kDa
305360
|
MPP1 database at LOVD
http://www.LOVD.nl/MPP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MPZ
myelin protein zero
159440
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
MRE11A
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
600814
|
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
http://bioinf.uta.fi/MRE11Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
609309
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
609309
|
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/
|
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
|
MSH2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
609309
|
Zhejiang University-Adinovo Center MSH2 Database
http://databases.lovd.nl/genomed/home.php?select_db=MSH2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
|
MSH6
mutS homolog 6 (E. coli)
600678
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
|
MSH6
mutS homolog 6 (E. coli)
600678
|
Mismatch Repair Genes Variant Database
http://www.med.mun.ca/mmrvariants/
|
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
|
MSH6
mutS homolog 6 (E. coli)
600678
|
MSH6 database at LOVD
http://www.LOVD.nl/MSH6
|
Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada
|
MSH6
mutS homolog 6 (E. coli)
600678
|
Zhejiang University-Adinovo Center MSH6 Database
http://databases.lovd.nl/genomed/home.php?select_db=MSH6
|
Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
|
MSL3
male-specific lethal 3 homolog (Drosophila)
300609
|
MSL3 database at LOVD
http://www.LOVD.nl/MSL3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MSN
moesin
309845
|
MSN database at LOVD
http://www.LOVD.nl/MSN
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MSTN
myostatin
601788
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/MSTN
|
Willem Hoogaars & Johan den Dunnen
|
MT-TS2
mitochondrially encoded tRNA serine 2 (AGU/C)
590085
|
Mutations of the Second Mitochondrial Serine tRNA Gene
http://www.retina-international.org/files/sci-news/mttsmut.htm
|
Retina International
|
MTM1
myotubularin 1
300415
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/MTM1
|
Jorge Oliveira & Johan den Dunnen
|
MTMR1
myotubularin related protein 1
300171
|
MTMR1 database at LOVD
http://www.LOVD.nl/MTMR1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MTMR14
myotubularin related protein 14
611089
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/MTMR14
|
Johan T den Dunnen Leiden Univ. Med Centre
|
MTMR2
myotubularin related protein 2
603557
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
MTMR8
myotubularin related protein 8
|
MTMR8 database at LOVD
http://www.LOVD.nl/MTMR8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
156570
|
Zhejiang University Center for Genetic and Genomic Medicine - MTR
http://databases.lovd.nl/genomed/home.php?select_db=MTR
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
602568
|
Zhejiang University Center for Genetic and Genomic Medicine - MTRR
http://databases.lovd.nl/genomed/home.php?select_db=MTRR
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MUM1L1
melanoma associated antigen (mutated) 1-like 1
|
MUM1L1 database at LOVD
http://www.LOVD.nl/MUM1L1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MUT
methylmalonyl CoA mutase
609058
|
Zhejiang University Center for Genetic and Genomic Medicine - MUT
http://databases.lovd.nl/genomed/home.php?select_db=MUT
|
Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
|
MUTYH
mutY homolog (E. coli)
604933
|
MUTYH - mutY homolog
http://www.LOVD.nl/MUTYH
|
Astrid Out & Carli Tops, LUMC, Leiden, Nederland
|
MVK
mevalonate kinase
251170
|
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Laurence Cuisset & Hans Waterham,
Génétique Développement et Pathologie Moléculaire,
Institut Cochin de Génétique Moléculaire, Paris, France
|
MXRA5
matrix-remodelling associated 5
|
MXRA5 database at LOVD
http://www.LOVD.nl/MXRA5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
MYB
v-myb myeloblastosis viral oncogene homolog (avian)
189990
|
Homo sapiens v-myb myeloblastosis viral oncogene homolog (MYB) database
http://lovd.bx.psu.edu/home.php?select_db=MYB
|
Belinda Giardine and Joseph Borg
|
MYBPC3
myosin binding protein C, cardiac
600958
|
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html
|
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
|
MYBPC3
myosin binding protein C, cardiac
600958
|
Sarcomere Protein Gene Mutation Database
http://genepath.med.harvard.edu/~seidman/cg3/genes/MYBPC3_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School
|
MYH7
myosin, heavy chain 7, cardiac muscle, beta
160760
|
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html
|
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
|
MYH7
myosin, heavy chain 7, cardiac muscle, beta
160760
|
Sarcomere Protein Gene Mutation Database
http://genepath.med.harvard.edu/~seidman/cg3/genes/MYH7_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
|
MYH9
myosin, heavy chain 9, non-muscle
160775
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
MYL2
myosin, light chain 2, regulatory, cardiac, slow
160781
|
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html
|
Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
|
MYL2
myosin, light chain 2, regulatory, cardiac, slow
160781
|
Sarcomere Protein Gene Mutation Database
http://genepath.med.harvard.edu/~seidman/cg3/genes/MYL2_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
|
MYL3
myosin, light chain 3, alkali; ventricular, skeletal, slow
160790
|
Sarcomere Protein Gene Mutation Database
http://genepath.med.harvard.edu/~seidman/cg3/genes/MYL3_info.html
|
NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
|
MYO15A
myosin XVA
602666
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
MYO5A
myosin VA (heavy chain 12, myoxin)
160777
|
MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
http://bioinf.uta.fi/MYO5Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
MYO6
myosin VI
600970
|
Hereditary Hearing Loss Homepage
http://hereditaryhearingloss.org/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
MYO6
myosin VI
600970
|
CCHMC-BMI & UC Hearing Loss Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=MYO6
|
Ammar Husami
|
MYO7A
myosin VIIA
276903
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
MYO7A
myosin VIIA
276903
|
Mutations of the Myosin VIIa Gene
http://www.retina-international.org/files/sci-news/myomut.htm
|
Retina International
|
MYO7A
myosin VIIA
276903
|
The UMD MYO7A mutations database
http://www.umd.be/MYO7A/
|
A.-F. Roux and D. Baux
|
MYO7A
myosin VIIA
276903
|
Retinal and hearing impairment genetic mutation database MYO7A
http://www.LOVD.nl/MYO7A
|
david baux
|
MYO7A
myosin VIIA
276903
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=MYO7A
|
Ammar Husami and Theru A. Sivakumaran
|
MYOC
myocilin, trabecular meshwork inducible glucocorticoid response
601652
|
Myocilin allele-specific phenotype database
http://www.myocilin.com/
|
Dr Alex Hewitt & A/Prof Jamie Craig, Department of Ophthalmology, Flinders University, Adelaide, Australia.
|
MYOT
myotilin
604103
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/MYOT
|
Johan den Dunnen
|
|
Go Back To Main Index!
|
NAGS
N-acetylglutamate synthase
608300
|
NAGS database at LOVD
http://www.LOVD.nl/NAGS
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NAP1L2
nucleosome assembly protein 1-like 2
300026
|
NAP1L2 database at LOVD
http://www.LOVD.nl/NAP1L2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NAP1L3
nucleosome assembly protein 1-like 3
300117
|
NAP1L3 database at LOVD
http://www.LOVD.nl/NAP1L3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NAP1L6
nucleosome assembly protein 1-like 6
|
NAP1L6 database at LOVD
http://www.LOVD.nl/NAP1L6
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NAT1
N-acetyltransferase 1 (arylamine N-acetyltransferase)
108345
|
Arylamine N-Acetyltransferase(Note- Not really a variation database but useful-lists alleles & nomenclature)
http://louisville.edu/medschool/pharmacology/NAT.html
|
David W. Hein, Dept Pharmacology & Toxicology Univ. Sch. Med. Louisville, Kentucky USA; Denis M. Grant, The Hospital for Sick Children, Toronto Canada; Edith Sim, Dept Pharmacology Univ. Oxford, UK
|
NAT2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
612182
|
Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature)
http://louisville.edu/medschool/pharmacology/NAT.html
|
David W. Hein, Dept Pharmacology & Toxicology, Univ. Sch. Med. Louisville, Kentucky, USA; Denis M. Grant, The Hospital for Sick Children, Toronto, Canada; Edith Sim, Dept Pharmacology, Univ. Oxford, UK
|
NBN
nibrin
602667
|
NBN - Leiden Open Variation Database
http://www.LOVD.nl/NBN
|
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
|
NCBP2L
nuclear cap binding protein subunit 2-like
|
NCBP2L database at LOVD
http://www.LOVD.nl/NCBP2L
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NCF1
neutrophil cytosolic factor 1
608512
|
NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox
http://bioinf.uta.fi/NCF1base/
|
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
NCF2
neutrophil cytosolic factor 2
608515
|
NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox
http://bioinf.uta.fi/NCF2base/
|
Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
NDP
Norrie disease (pseudoglioma)
300658
|
Mutations of the Norrie Disease Gene
http://www.retina-international.org/files/sci-news/ndgmut.htm
|
Retina International
|
NDRG1
N-myc downstream regulated 1
605262
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
NDUFA1
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
300078
|
NDUFA1 database at LOVD
http://www.LOVD.nl/NDUFA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NEB
nebulin
161650
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/NEB
|
Katarina Pelin, Tom Winder, Vilma-Lotta Lehtokari & Johan den Dunnen
|
NEFL
neurofilament, light polypeptide
162280
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics, Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
NF1
neurofibromin 1
162200
|
NF1 @ The Center for Medical Genetics, Ghent University Hospital, Belgium
http://medgen.ugent.be/LOVD2/
|
Ophelia Maertens, Centre for Medical Genetics
Gent, Belgium
|
NFKBIA
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
164008
|
NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
http://bioinf.uta.fi/NFKBIAbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
NGF
nerve growth factor (beta polypeptide)
162030
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
NHEJ1
nonhomologous end-joining factor 1
611290
|
NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR
http://bioinf.uta.fi/NHEJ1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
NHP2
NHP2 ribonucleoprotein homolog (yeast)
606470
|
The Telomerase Database
http://telomerase.asu.edu/diseases.html#nola2
|
Julian J-L Chen at Arizona State University
|
NHS
Nance-Horan syndrome (congenital cataracts and dental anomalies)
300457
|
NHS database at LOVD
http://www.LOVD.nl/NHS
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NHSL2
NHS-like 2
|
NHSL2 database at LOVD
http://www.LOVD.nl/NHSL2
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NIPBL
Nipped-B homolog (Drosophila)
608667
|
NIPBL - LOVD
http://www.LOVD.nl/NIPBL
|
Jorge Oliveira, Unidade de Genética Molecular, Centro de Genética Médica J. Magalhães - INSA, Porto, Portugal;
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands
|
NKAP
NFKB activating protein
300766
|
NKAP database at LOVD
http://www.LOVD.nl/NKAP
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NKRF
NFKB repressing factor
300440
|
NKRF database at LOVD
http://www.LOVD.nl/NKRF
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NLGN3
neuroligin 3
300336
|
NLGN3 database at LOVD
http://www.LOVD.nl/NLGN3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NLGN4X
neuroligin 4, X-linked
300427
|
NLGN4X database at LOVD
http://www.LOVD.nl/NLGN4X
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NLRP3
NLR family, pyrin domain containing 3
606416
|
INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Hal Hoffmann,
Medicine and Pediatrics,
University of California at San Diego, La Jolla,USA
|
NLRP7
NLR family, pyrin domain containing 7
609661
|
INFEVERS: The repertory of RMHs sequence variants
http://fmf.igh.cnrs.fr/infevers/
|
Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada
|
NOD2
nucleotide-binding oligomerization domain containing 2
605956
|
Crohn's Disease & Blau Syndrome; INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Jean-pierre Hugot & Suzanne Lesage,
INSERM 289, Paris, France
|
NOG
noggin
602991
|
Sequence alterations in the NOG gene
http://www.LOVD.nl/NOG
|
Sarah Emery
|
NOP10
NOP10 ribonucleoprotein homolog (yeast)
606471
|
The Telomerase Database
http://telomerase.asu.edu/diseases.html#nola3
|
Julian J-L Chen at Arizona State University
|
NOS1
nitric oxide synthase 1 (neuronal)
163731
|
Nitric oxide synthase 1 (neuronal) (NOS1) database
http://lovd.bx.psu.edu/home.php?select_db=NOS1
|
Belinda Giardine and Joseph Borg
|
NOS2
nitric oxide synthase 2, inducible
163730
|
Nitric oxide synthase 2, inducible (NOS2A) database
http://lovd.bx.psu.edu/home.php?select_db=NOS2A
|
Belinda Giardine and Joseph Borg
|
NOS3
nitric oxide synthase 3 (endothelial cell)
163729
|
Nitric oxide synthase 3 (endothelial cell) (NOS3) database
http://lovd.bx.psu.edu/home.php?select_db=NOS3
|
Belinda Giardine and Joseph Borg
|
NOTCH2
notch 2
600275
|
Notch homolog 2 (Drosophila) (NOTCH2)
http://www.LOVD.nl/NOTCH2
|
Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NOTCH3
notch 3
600276
|
Notch homolog 3 (NOTCH3)
http://www.LOVD.nl/NOTCH3
|
Elles Boon, LUMC, Leiden, Nederland
|
NOX1
NADPH oxidase 1
300225
|
NOX1 database at LOVD
http://www.LOVD.nl/NOX1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NOX3
NADPH oxidase 3
607105
|
NADPH oxidase 3 (NOX3) database
http://lovd.bx.psu.edu/home.php?select_db=NOX3
|
Belinda Giardine and Joseph Borg
|
NR0B1
nuclear receptor subfamily 0, group B, member 1
300473
|
NROB1 - adrenal hypoplasia (DAX1)
http://www.LOVD.nl/NROB1
|
Bert Bakker, LUMC, Leiden, Nederland
|
NR2E3
nuclear receptor subfamily 2, group E, member 3
604485
|
Mutations of the Photoreceptor cell-specific Nuclear Receptor
http://www.retina-international.org/files/sci-news/nr2e3mut.htm
|
Retina International
|
NR2E3
nuclear receptor subfamily 2, group E, member 3
604485
|
NR2E3 database at LOVD
http://www.LOVD.nl/NR2E3
|
Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland
|
NR3C1
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
138040
|
Glucocorticoid Receptor Resource database
http://nrr.georgetown.edu/GRR/mutation/mutation.html
|
S.Stoney Simons, Mark Danielsen, Georgetown Univ. Georgetown, USA
|
NRK
Nik related kinase
300791
|
NRK database at LOVD
http://www.LOVD.nl/NRK
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NRL
neural retina leucine zipper
162080
|
Mutations of the Neuroretina-linked Leucine Zipper Gene
http://www.retina-international.org/files/sci-news/nrlmut.htm
|
Retina International
|
NSD1
nuclear receptor binding SET domain protein 1
606681
|
NSD1 at LOVD
http://www.LOVD.nl/NSD1
|
Janneke Weiss, LUMC, Leiden, Netherlands
|
NSDHL
NAD(P) dependent steroid dehydrogenase-like
300275
|
NSDHL database at LOVD
http://www.LOVD.nl/NSDHL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NTRK1
neurotrophic tyrosine kinase, receptor, type 1
191315
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
NUP133
nucleoporin 133kDa
607613
|
Nucleoporin 133kDa (NUP133) database
http://lovd.bx.psu.edu/home.php?select_db=NUP133
|
Belinda Giardine and Joseph Borg
|
NUP62CL
nucleoporin 62kDa C-terminal like
|
NUP62CL database at LOVD
http://www.LOVD.nl/NUP62CL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NXF3
nuclear RNA export factor 3
300316
|
NXF3 database at LOVD
http://www.LOVD.nl/NXF3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NXF5
nuclear RNA export factor 5
300319
|
NXF5 database at LOVD
http://www.LOVD.nl/NXF5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
NYX
nyctalopin
300278
|
Mutations of Nyctalopin
http://www.retina-international.org/files/sci-news/nyxmut.htm
|
Retina International
|
|
Go Back To Main Index!
|
OCA2
oculocutaneous albinism II
611409
|
Mutations of the P-Gene
http://www.retina-international.org/files/sci-news/pgenemut.htm
|
Retina International
|
OCA2
oculocutaneous albinism II
611409
|
Albinism Database
http://albinismdb.med.umn.edu/
|
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A.
|
OCRL
oculocerebrorenal syndrome of Lowe
300535
|
Database of the OCRL1 Mutations Causing Lowe Syndrome
http://research.nhgri.nih.gov/lowe/
|
Robert L. Nussbaum,
Sharon F. Suchy,
Ti Lin,
Genetic Disease Research Branch, NHGRI/NIH Bethesda, USA
|
ODZ1
odz, odd Oz/ten-m homolog 1(Drosophila)
300588
|
ODZ1 database at LOVD
http://www.LOVD.nl/ODZ1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
OFD1
oral-facial-digital syndrome 1
300170
|
OFD1 database at LOVD
http://www.LOVD.nl/OFD1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
300255
|
OGT database at LOVD
http://www.LOVD.nl/OGT
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
OPA1
optic atrophy 1 (autosomal dominant)
605290
|
Mutations of the Optic Atrophy 1 Gene
http://www.retina-international.org/files/sci-news/opa1mut.htm
|
Retina International
|
OPA1
optic atrophy 1 (autosomal dominant)
605290
|
eOPA1 - MITOchondrial DYNamics variation pages
http://opa1.mitodyn.org
|
Marc FERRE, CHU Angers - CNRS 6214/INSERM 1083, France
|
OPHN1
oligophrenin 1
300127
|
OPHN1 database at LOVD
http://www.LOVD.nl/OPHN1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
OPN1LW
opsin 1 (cone pigments), long-wave-sensitive
303900
|
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/files/sci-news/cppmut.htm
|
Retina International
|
OPN1MW
opsin 1 (cone pigments), medium-wave-sensitive
303800
|
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/files/sci-news/cppmut.htm
|
Retina International
|
OPN1SW
opsin 1 (cone pigments), short-wave-sensitive
190900
|
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/files/sci-news/cppmut.htm
|
Retina International
|
OTC
ornithine carbamoyltransferase
300461
|
Ornithine Transcarbamylase Deficiency Website
http://ureacycle.cnmcresearch.org/otc/
|
Hiroki Morizono, Mendel Tuchman, Children's National Medical Center,
Washington DC, USA
|
OTC
ornithine carbamoyltransferase
300461
|
OTC - Ornithine transcarbamylase deficiency
http://www.LOVD.nl/OTC
|
Bert Bakker, LUMC, Leiden, Nederland
|
OTOF
otoferlin
603681
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
OTOF
otoferlin
603681
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=OTOF
|
Ammar Husami and Theru A. Sivakumaran
|
OTX2
orthodenticle homeobox 2
600037
|
OTX2 Allelic Variant Database
http://lsdb.hgu.mrc.ac.uk/home.php?select_db=OTX2
|
Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen
|
|
Go Back To Main Index!
|
P2RY10
purinergic receptor P2Y, G-protein coupled, 10
300529
|
P2RY10 database at LOVD
http://www.LOVD.nl/P2RY10
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
P2RY4
pyrimidinergic receptor P2Y, G-protein coupled, 4
300038
|
P2RY4 database at LOVD
http://www.LOVD.nl/P2RY4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
P2RY8
purinergic receptor P2Y, G-protein coupled, 8
300525
|
P2RY8 database at LOVD
http://www.LOVD.nl/P2RY8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PABPC5
poly(A) binding protein, cytoplasmic 5
300407
|
PABPC5 database at LOVD
http://www.LOVD.nl/PABPC5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PABPN1
poly(A) binding protein, nuclear 1
602279
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/PABPN1
|
Johan T den Dunnen Leiden Univ. Med Centre
|
PAGE1
P antigen family, member 1 (prostate associated)
300288
|
PAGE1 database at LOVD
http://www.LOVD.nl/PAGE1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PAGE3
P antigen family, member 3 (prostate associated)
300739
|
PAGE3 database at LOVD
http://www.LOVD.nl/PAGE3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PAH
phenylalanine hydroxylase
612349
|
Phenylalanine Hydroxylase Locus Knowledgebase
http://www.pahdb.mcgill.ca
|
Charles R. Scriver, Lynne Prevost, Mélanie Hurtubise & David Konecki, PAH Mutation Analysis Consortium, McGill University, Montreal, Canada
|
PALB2
partner and localizer of BRCA2
610355
|
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/
|
Arleen Auerbach, Rockefeller University, New York, USA
|
PARK2
Parkinson disease (autosomal recessive, juvenile) 2, parkin
602544
|
PARK2 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK2
|
The Parkinson's Institute
|
PARK7
Parkinson disease (autosomal recessive, early onset) 7
602533
|
PARK7 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK7
|
The Parkinson's Institute
|
PASD1
PAS domain containing 1
|
PASD1 database at LOVD
http://www.LOVD.nl/PASD1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PAX2
paired box 2
167409
|
PAX2 Mutation Database
http://pax2.hgu.mrc.ac.uk/
|
Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK
|
PAX2
paired box 2
167409
|
PAX2 mutation database
https://grenada.lumc.nl/LOVD2/PAX2
|
Matthew Bower, University of Minnesota Medical Center
|
PAX3
paired box 3
606597
|
PAX3 database at LOVD
http://www.LOVD.nl/PAX3
|
Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
|
PAX6
paired box 6
607108
|
PAX6 Mutation Database-Aniridia Type II
http://pax6.hgu.mrc.ac.uk/
|
Graeme Grimes & Isabel Hanson
MRC, Human Genetics Unit
Edinburgh, UK
|
PCBD1
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
126090
|
Pterin-4a-carbionolaminedehydratase deficiency-BIOMED database
http://www.bh4.org/
|
N. Blau, Univ.Children's Hospital,
Zurich
J.L. Dhont, Facultélibre de Médicine,
Lille,
I.Dianzani, Univ.Torino, Torino, Italy
|
PCBD1
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
126090
|
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND
http://www.bh4.org/
|
Nenad Blau,
Univ.Children's Hospital,
Zurich
|
PCCA
propionyl Coenzyme A carboxylase, alpha polypeptide
232000
|
Propionyl CoA Carboxylase Page
http://www.uchsc.edu/cbs/pcc/pccmain.htm
|
Jan P. Kraus, Maja Chloupkova,
Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA,
Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep.
|
PCCB
propionyl Coenzyme A carboxylase, beta polypeptide
232050
|
Propionyl CoA Carboxylase Page
http://www.uchsc.edu/cbs/pcc/pccmain.htm
|
Jan P. Kraus, Maja Chloupkova,
Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA,
Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep.
|
PCDH11X
protocadherin 11 X-linked
300246
|
PCDH11X database at LOVD
http://www.LOVD.nl/PCDH11X
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PCDH15
protocadherin-related 15
605514
|
Mutations of the Protocadherin 15 Gene
http://www.retina-international.org/files/sci-news/pcdhmut.htm
|
Retina International
|
PCDH15
protocadherin-related 15
605514
|
The UMD PCDH15 mutations database
http://www.umd.be/PCDH15/
|
A.-F. Roux and D. Baux
|
PCDH15
protocadherin-related 15
605514
|
Retinal and hearing impairment genetic mutation database PCDH15
http://www.LOVD.nl/PCDH15
|
david baux
|
PCDH15
protocadherin-related 15
605514
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=PCDH15
|
Ammar Husami and Theru A. Sivakumaran
|
PCDH19
protocadherin 19
300460
|
PCDH19 database at LOVD
http://www.LOVD.nl/PCDH19
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PCNT
pericentrin
605925
|
Mental Retardation database - pericentrin (PCNT)
http://www.LOVD.nl/PCNT
|
Johan T den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PCSK9
proprotein convertase subtilisin/kexin type 9
607786
|
Hypercholesterolemia, Familial
http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
|
Sarah Leigh
|
PCYT1B
phosphate cytidylyltransferase 1, choline, beta
604926
|
PCYT1B database at LOVD
http://www.LOVD.nl/PCYT1B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PDC
phosducin
171490
|
Mutations of the Phosducin Gene
http://www.retina-international.org/files/sci-news/pdcmut.htm
|
Retina International
|
PDE6A
phosphodiesterase 6A, cGMP-specific, rod, alpha
180071
|
Mutations of the Phosphodiesterase type 6
http://www.retina-international.org/files/sci-news/pdemut.htm
|
Retina International
|
PDE7B
phosphodiesterase 7B
604645
|
Phosphodiesterase 7B (PDE7B) database
http://lovd.bx.psu.edu/home.php?select_db=PDE7B
|
Belinda Giardine and Joseph Borg
|
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
300502
|
PDHA1 database at LOVD
http://www.LOVD.nl/PDHA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PDK3
pyruvate dehydrogenase kinase, isozyme 3
602526
|
PDK3 database at LOVD
http://www.LOVD.nl/PDK3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PDS5A
PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)
613200
|
PDS5A database at LOVD
http://www.LOVD.nl/PDS5A
|
Johan T den Dunnen Leiden Univ. Med Centre
|
PDS5B
PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)
605333
|
PDS5B database at LOVD
http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=PDS5B
|
Johan T den Dunnen Leiden Univ. Med Centre
|
PEX1
peroxisomal biogenesis factor 1
602136
|
dbPEX, PEX1 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX10
peroxisomal biogenesis factor 10
602859
|
dbPEX, PEX10 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX12
peroxisomal biogenesis factor 12
601758
|
dbPEX, PEX12 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX13
peroxisomal biogenesis factor 13
601789
|
dbPEX, PEX13 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX14
peroxisomal biogenesis factor 14
601791
|
dbPEX, PEX14 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX16
peroxisomal biogenesis factor 16
603360
|
dbPEX, PEX16 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX19
peroxisomal biogenesis factor 19
600279
|
dbPEX, PEX19 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX2
peroxisomal biogenesis factor 2
170993
|
dbPEX, PEX2 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX26
peroxisomal biogenesis factor 26
608666
|
dbPEX, PEX26 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX3
peroxisomal biogenesis factor 3
603164
|
dbPEX, PEX3 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX5
peroxisomal biogenesis factor 5
600414
|
dbPEX, PEX5 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX6
peroxisomal biogenesis factor 6
601498
|
dbPEX, PEX6 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PEX7
peroxisomal biogenesis factor 7
601757
|
dbPEX, PEX7 Gene Database
http://www.dbpex.org/
|
Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
|
PFKFB1
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
311790
|
PFKFB1 database at LOVD
http://www.LOVD.nl/PFKFB1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PGAM4
phosphoglycerate mutase family member 4
300567
|
PGAM4 database at LOVD
http://www.LOVD.nl/PGAM4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PGK1
phosphoglycerate kinase 1
311800
|
PGK1 database at LOVD
http://www.LOVD.nl/PGK1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PGRMC1
progesterone receptor membrane component 1
300435
|
PGRMC1 database at LOVD
http://www.LOVD.nl/PGRMC1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PHEX
phosphate regulating endopeptidase homolog, X-linked
300550
|
PHEXdb Locus Database
http://www.phexdb.mcgill.ca
|
Y. Sabbagh, A. O. Jones, H. S. Tenenhouse, Manyphong Phommarinh, McGill University , Canada, Montreal
|
PHF16
PHD finger protein 16
300618
|
PHF16 database at LOVD
http://www.LOVD.nl/PHF16
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PHF8
PHD finger protein 8
300560
|
PHF8 database at LOVD
http://www.LOVD.nl/PHF8
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PHKA1
phosphorylase kinase, alpha 1 (muscle)
311870
|
PHKA1 database at LOVD
http://www.LOVD.nl/PHKA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PHKA2
phosphorylase kinase, alpha 2 (liver)
306000
|
PHKA2 database at LOVD
http://www.LOVD.nl/PHKA2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PIGA
phosphatidylinositol glycan anchor biosynthesis, class A
311770
|
PIGA database at LOVD
http://www.LOVD.nl/PIGA
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PIM2
pim-2 oncogene
300295
|
PIM2 database at LOVD
http://www.LOVD.nl/PIM2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PIN4
protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)
300252
|
PIN4 database at LOVD
http://www.LOVD.nl/PIN4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PINK1
PTEN induced putative kinase 1
608309
|
PINK1 Parkinson's disease Mutation Database
http://www.LOVD.nl/PINK1
|
The Parkinson's Institute
|
PIR
pirin (iron-binding nuclear protein)
603329
|
PIR database at LOVD
http://www.LOVD.nl/PIR
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PITX3
paired-like homeodomain 3
602669
|
PITX3 database at LOVD
http://www.LOVD.nl/PITX3
|
Johan T den Dunnen Leiden Univ. Med Centre
|
PJA1
praja ring finger 1
300420
|
PJA1 database at LOVD
http://www.LOVD.nl/PJA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PKD1
polycystic kidney disease 1 (autosomal dominant)
601313
|
Autosomal Dominant Polycystic Kidney Disease: Mutation Database
http://pkdb.mayo.edu/
|
Polycystic Kidney Research Foundation
|
PKD1
polycystic kidney disease 1 (autosomal dominant)
601313
|
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
http://www.LOVD.nl/PKD1
|
Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera
|
PKD2
polycystic kidney disease 2 (autosomal dominant)
173910
|
Autosomal Dominant Polycystic Kidney Disease: Mutation Database
http://pkdb.mayo.edu/
|
Polycystic Kidney Research Foundation
|
PKD2
polycystic kidney disease 2 (autosomal dominant)
173910
|
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
http://www.LOVD.nl/PKD2
|
Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera
|
PKHD1
polycystic kidney and hepatic disease 1 (autosomal recessive)
606702
|
Autosomal Recessive Polycystic Kidney Disease
http://www.humgen.rwth-aachen.de/
|
Carsten Bergmann,
Klaus Zerres,
Dept. of Human Genetics,
Aachen University, Aachen Germany
|
PKLR
pyruvate kinase, liver and RBC
609712
|
PKLR Mutation Database
http://www.pklrmutationdatabase.com/
|
Richard van Wijk, University Medical Center Utrecht, Utrecht, The Netherlands
|
PKP2
plakophilin 2
602861
|
ARVD/C Genes Variants Database
http://www.arvcdatabase.info
|
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
|
PKP2
plakophilin 2
602861
|
ARVD/C Genetic Variants Database
http://www.LOVD.nl/PKP2
|
Paul van der Zwaag
|
PLA2G6
phospholipase A2, group VI (cytosolic, calcium-independent)
603604
|
Mutation Database for Phospholipase A2 GroupVI - Associated Neurodegeneration (PLAN)
http://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=PLA2G6
|
Dr Manju A Kurian,
Ms Danielle Crompton, and
Dr Derek Lim
|
PLCXD1
phosphatidylinositol-specific phospholipase C, X domain containing 1
|
PLCXD1 database at LOVD
http://www.LOVD.nl/PLCXD1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PLEC
plectin
601282
|
Leiden Muscular Dystrophy pages - Plectin (PLEC)
http://www.LOVD.nl/PLEC
|
Johan T den Dunnen Leiden Univ. Med Centre
|
PLOD1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
153454
|
Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
601865
|
Osteogenesis Imperfecta Variant Database
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
PLOD3
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
603066
|
Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
PLP1
proteolipid protein 1
300401
|
Mental Retardation database proteolipid protein 1 (PLP1)
http://www.LOVD.nl/PLP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PLP2
proteolipid protein 2 (colonic epithelium-enriched)
300112
|
Mental Retardation database proteolipid protein 2 (colonic epithelium-enriched) (PLP2)
http://www.LOVD.nl/PLP2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PLS3
plastin 3
300131
|
PLS3 database at LOVD
http://www.LOVD.nl/PLS3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PLXNA3
plexin A3
300022
|
PLXNA3 database at LOVD
http://www.LOVD.nl/PLXNA3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PLXNB3
plexin B3
300214
|
PLXNB3 database at LOVD
http://www.LOVD.nl/PLXNB3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PMM2
phosphomannomutase 2
601785
|
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
|
Gert Matthijs, Center for Human Genetics Leuven, Belgium
|
PMP22
peripheral myelin protein 22
601097
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
PMS1
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
600258
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
|
PMS1
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
600258
|
Zhejiang University-Adinovo Center PMS1 Database
http://databases.lovd.nl/genomed/home.php?select_db=PMS1
|
Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
|
PMS2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
600259
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/
|
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
|
PMS2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
600259
|
Zhejiang University-Adinovo Center PMS2 Database
http://databases.lovd.nl/genomed/home.php?select_db=PMS2
|
Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
|
PNMA3
paraneoplastic antigen MA3
300675
|
PNMA3 database at LOVD
http://www.LOVD.nl/PNMA3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PNMA5
paraneoplastic antigen like 5
|
PNMA5 database at LOVD
http://www.LOVD.nl/PNMA5
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PNMA6A
paraneoplastic antigen like 6A
|
PNMA6A database at LOVD
http://www.LOVD.nl/PNMA6A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PNP
purine nucleoside phosphorylase
164050
|
NPbase: Mutation registry for PNP deficiency
http://bioinf.uta.fi/NPbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
PNPLA4
patatin-like phospholipase domain containing 4
300102
|
PNPLA4 database at LOVD
http://www.LOVD.nl/PNPLA4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PNPO
pyridoxamine 5'-phosphate oxidase
603287
|
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
|
POF1B
premature ovarian failure, 1B
300603
|
POF1B database at LOVD
http://www.LOVD.nl/POF1B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
POLA1
polymerase (DNA directed), alpha 1, catalytic subunit
312040
|
POLA1 database at LOVD
http://www.LOVD.nl/POLA1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
POMGNT1
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
606822
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/POMGNT1
|
Rosário dos Santos & Johan den Dunnen
|
POMT1
protein-O-mannosyltransferase 1
607423
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/POMT1
|
Rosário dos Santos & Johan den Dunnen
|
POMT2
protein-O-mannosyltransferase 2
607439
|
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/POMT2
|
Rosário dos Santos & Johan den Dunnen
|
POR
P450 (cytochrome) oxidoreductase
124015
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
PORCN
porcupine homolog (Drosophila)
300651
|
PORCN at LOVD
http://www.LOVD.nl/PORCN
|
M.P. Lombardi and R.C.M. Hennekam, Academic Medical Center, University of Amsterdam
|
POU3F4
POU class 3 homeobox 4
300039
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
POU3F4
POU class 3 homeobox 4
300039
|
POU3F4 database at LOVD
http://www.LOVD.nl/POU3F4
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
POU4F3
POU class 4 homeobox 3
602460
|
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/
|
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
|
PPEF1
protein phosphatase, EF-hand calcium binding domain 1
300109
|
PPEF1 database at LOVD
http://www.LOVD.nl/PPEF1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PPIB
peptidylprolyl isomerase B (cyclophilin B)
123841
|
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/
|
Raymond Dalgleish, Leicester, U.K.
|
PPP1R3F
protein phosphatase 1, regulatory (inhibitor) subunit 3F
|
PPP1R3F database at LOVD
http://www.LOVD.nl/PPP1R3F
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PPP2R3B
protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta
300339
|
PPP2R3B database at LOVD
http://www.LOVD.nl/PPP2R3B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PPT1
palmitoyl-protein thioesterase 1
600722
|
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
|
Sara E. Mole, MRC Laboratory for Molecular Cell Biology,
University College London,
London,
United Kingdom
|
PPT1
palmitoyl-protein thioesterase 1
600722
|
Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
http://www.retina-international.org/files/sci-news/pptmut.htm
|
Retina International
|
PQBP1
polyglutamine binding protein 1
300463
|
PQBP1 database at LOVD
http://www.LOVD.nl/PQBP1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRDX4
peroxiredoxin 4
606506
|
PRDX4 database at LOVD
http://www.LOVD.nl/PRDX4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRF1
perforin 1 (pore forming protein)
170280
|
PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)
http://bioinf.uta.fi/PRF1base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
PRF1
perforin 1 (pore forming protein)
170280
|
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
http://www.LOVD.nl/PRF1
|
Ammar Husami and Theru A. Sivakumaran
|
PRICKLE3
prickle homolog 3 (Drosophila)
300111
|
PRICKLE3 database at LOVD
http://www.LOVD.nl/PRICKLE3
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRKCG
protein kinase C, gamma
176980
|
Mutations of the Protein Kinase C γ
http://www.retina-international.org/files/sci-news/prkcgmut.htm
|
Retina International
|
PRKX
protein kinase, X-linked
300083
|
PRKX database at LOVD
http://www.LOVD.nl/PRKX
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRNP
prion protein
176640
|
Prion Protein/CJD database
http://www.mad-cow.org/~tom/prion_point_mutations.html
|
Sperling Biomedical Foundation,
Oregon, U.S.A.
|
PROM1
prominin 1
604365
|
Mutations of the Prominin (mouse)-like 1 gene (PROML1)
http://www.retina-international.org/files/sci-news/promlmut.htm
|
Retina International
|
PROM1
prominin 1
604365
|
Prominin 1 (PROM1) database at LOVD
http://www.LOVD.nl/PROM1
|
Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland
|
PROS1
protein S (alpha)
176880
|
Protein S Deficiency: A database of Mutations
http://www.med.unc.edu/isth/
|
S. Gandrille, INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, 4 Avenue de l'Observatoire, 75006 Paris, FRANCE
|
Protein Kinase
multiple protein kinase domains
|
KinMutBase: A registry of disease-causing mutations in protein kinase domains
http://bioinf.uta.fi/KinMutBase/
|
Mauno Vihinen, Kaj Stenberg, Univ. of Tampere, Tampere, Finland
|
PRPF31
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
606419
|
Mutations of the RNA Processing Factor 31
http://www.retina-international.org/files/sci-news/prp31mut.htm
|
Retina International
|
PRPF8
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
607300
|
Mutations of the Precursor mRNA Processing Protein 8
http://www.retina-international.org/files/sci-news/prpc8mut.htm
|
Retina International
|
PRPH2
peripherin 2 (retinal degeneration, slow)
179605
|
Mutations of the RDS/Peripherin Gene
http://www.retina-international.org/files/sci-news/rdsmut.htm
|
Retina International
|
PRPS1
phosphoribosyl pyrophosphate synthetase 1
311850
|
PRPS1 database at LOVD
http://www.LOVD.nl/PRPS1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRPS2
phosphoribosyl pyrophosphate synthetase 2
311860
|
PRPS2 database at LOVD
http://www.LOVD.nl/PRPS2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRRG1
proline rich Gla (G-carboxyglutamic acid) 1
604428
|
PRRG1 database at LOVD
http://www.LOVD.nl/PRRG1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRRG3
proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)
300685
|
PRRG3 database at LOVD
http://www.LOVD.nl/PRRG3
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PRSS1
protease, serine, 1 (trypsin 1)
276000
|
Database of genetic variants in patients with chronic pancreatitis
http://www.uni-leipzig.de/pancreasmutation/
|
Niels Teich,
Universität Leipzig,
Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany
|
PRX
periaxin
605725
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis,
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
PSEN1
presenilin 1
104311
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts & Nathalie Brouwers
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
PSEN2
presenilin 2 (Alzheimer disease 4)
600759
|
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
|
Marc Cruts & Nathalie Brouwers, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
|
PSMD10
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
603480
|
PSMD10 database at LOVD
http://www.LOVD.nl/PSMD10
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
606347
|
PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
http://fmf.igh.cnrs.fr/infevers/
|
Carol Wise,
Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children,Dallas, USA
|
PTCH1
patched homolog 1 (Drosophila)
601309
|
PTCH Mutation Database
http://www.cybergene.se/cgi-bin/w3-msql/ptchbase/index.html
|
Rune Toftgard, Karolinska Institut, Sweden
Georgia Chenevix-Trench, QIMR, Brisbane, Australia
Mike Dean, National Cancer Institute, Maryland, U.S.A.
|
PTCHD1
patched domain containing 1
|
PTCHD1 database at LOVD
http://www.LOVD.nl/PTCHD1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
PTGIS
prostaglandin I2 (prostacyclin) synthase
601699
|
Human Cytochrome P450 (CYP) Allele Nomenclature Committee
http://www.cypalleles.ki.se/
|
Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
|
PTPRC
protein tyrosine phosphatase, receptor type, C
151460
|
PTPRCbase: Mutation registry for CD45 deficiency
http://bioinf.uta.fi/PTPRCbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
PTRF
polymerase I and transcript release factor
603198
|
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/PTRF
|
Johan T. den Dunnen Leiden Univ. Med Centre, other curators invited
|
PTS
6-pyruvoyltetrahydropterin synthase
261640
|
6-Pyruvoyl-tetrahydropterinsynthase deficiency-BIOMED database
http://www.bh4.org/
|
N. Blau,
Univ.Children's Hospital, Zurich
J.L. Dhont, Faculté libre de Médicine, Lille, France
I.Dianzani, Univ.Torino, Torino, Italy
|
|
Go Back To Main Index!
|
QDPR
quinoid dihydropteridine reductase
261630
|
Quinoid Dihydropteridinereductase deficiency- BIOMED database
http://www.bh4.org/
|
N. Blau,
Univ.Children's Hospital, Zurich
J.L. Dhont, Faculté libre de Médicine, Lille, France
I.Dianzani, Univ.Torino, Torino, Italy
|
|
Go Back To Main Index!
|
RAB27A
RAB27A, member RAS oncogene family
603868
|
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
http://bioinf.uta.fi/RAB27Abase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
RAB27A
RAB27A, member RAS oncogene family
603868
|
Mutations of the Small Nucleotide-binding Protein 27a Gene
http://www.retina-international.org/files/sci-news/rab27mut.htm
|
Retina International
|
RAB27A
RAB27A, member RAS oncogene family
603868
|
CCHMC - Human Genetics Mutation Database
http://www.LOVD.nl/RAB27A
|
Ammar Husami and Theru A. Sivakumaran
|
RAB33A
RAB33A, member RAS oncogene family
300333
|
RAB33A database at LOVD
http://www.LOVD.nl/RAB33A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAB39B
RAB39B, member RAS oncogene family
300774
|
RAB39B database at LOVD
http://www.LOVD.nl/RAB39B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAB40A
RAB40A, member RAS oncogene family
|
RAB40A database at LOVD
http://www.LOVD.nl/RAB40A
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAB40AL
RAB40A, member RAS oncogene family-like
300405
|
RAB40AL database at LOVD
http://www.LOVD.nl/RAB40AL
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAB41
RAB41, member RAS oncogene family
|
RAB41 database at LOVD
http://www.LOVD.nl/RAB41
|
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAB7A
RAB7A, member RAS oncogene family
602298
|
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
|
Eva Nelis
Molecular Genetics Department
Flanders Interuniversity Institute for Biotechnology (VIB)
University of Antwerp (UA), Belgium
|
RAB9B
RAB9B, member RAS oncogene family
300285
|
RAB9B database at LOVD
http://www.LOVD.nl/RAB9B
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RAC2
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
602049
|
RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
http://bioinf.uta.fi/RAC2base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
RAG1
recombination activating gene 1
179615
|
RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
http://bioinf.uta.fi/RAG1base/
|
Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland
|
RAG2
recombination activating gene 2
179616
|
RAG2base: Mutation registry for autosomal recessive RAG2 deficiency
http://bioinf.uta.fi/RAG2base/
|
Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland
|
RAI2
retinoic acid induced 2
300217
|
RAI2 database at LOVD
http://www.LOVD.nl/RAI2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RASA1
RAS p21 protein activator (GTPase activating protein) 1
139150
|
RASA1 - Related Disorders, RASA1 Gene Database
http://www.arup.utah.edu/database/RASA1/RASA1_welcome.php
|
Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
|
RB1
retinoblastoma 1
180200
|
rb1-lsdb, Universitat Duisburg-Essen
http://www.verandi.de/joomla/index.php?option=com_frontpage&Itemid=1
|
Dietmar R. Lohmann and Julia Röwenstrunk, Universitat Duisburg-Essen, Germany
|
RBM10
RNA binding motif protein 10
300080
|
RBM10 database at LOVD
http://www.LOVD.nl/RBM10
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RBM41
RNA binding motif protein 41
|
RBM41 database at LOVD
http://www.LOVD.nl/RBM41
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RBMX
RNA binding motif protein, X-linked
300199
|
RBMX database at LOVD
http://www.LOVD.nl/RBMX
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RDH5
retinol dehydrogenase 5 (11-cis/9-cis)
601617
|
Mutations of the 11-cis Retinol Dehydrogenase Gene
http://www.retina-international.org/files/sci-news/rdhmut.htm
|
Retina International
|
RENBP
renin binding protein
312420
|
RENBP database at LOVD
http://www.LOVD.nl/RENBP
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
REPS2
RALBP1 associated Eps domain containing 2
300317
|
REPS2 database at LOVD
http://www.LOVD.nl/REPS2
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RET
ret proto-oncogene
164761
|
Multiple Endocrine Neoplasia type 2 (MEN2) RET database
http://www.arup.utah.edu/database/MEN2/MEN2_welcome.php
|
Dr. Rebecca Margraf and Dr. Rong Mao, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake
City, UT, USA
|
RFX5
regulatory factor X, 5 (influences HLA class II expression)
601863
|
RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency
http://bioinf.uta.fi/RFX5base/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
RFXANK
regulatory factor X-associated ankyrin-containing protein
603200
|
RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency
http://bioinf.uta.fi/RFXANKbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
RFXAP
regulatory factor X-associated protein
601861
|
RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency
http://bioinf.uta.fi/RFXAPbase/
|
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
|
RGAG1
retrotransposon gag domain containing 1
|
RGAG1 database at LOVD
http://www.LOVD.nl/RGAG1
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RGAG4
retrotransposon gag domain containing 4
|
RGAG4 database at LOVD
http://www.LOVD.nl/RGAG4
|
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
|
RGR
retinal G protein coupled receptor
600342
|
Mutations of the RPE-Retinal G-Protein-Coupled Receptor
http://www.retina-international.org/files/sci-news/rgrmut.htm
|
Retina International
|
RHAG
Rh-associated glycoprotein
180297
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine,
New York, NY. U.S.A
|
RHCE
Rh blood group, CcEe antigens
111700
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine,
New York, NY. U.S.A
|
RHD
Rh blood group, D antigen
111680
|
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
|
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine,
New York, NY. U.S.A
|
RHO
rhodopsin
180380
|
Mutations of the Rhodopsin Gene
|
