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Locus Specific Mutation Databases |
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Genes are in order of HUGO
APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found
under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG"
and so on.
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| Please select the first letter of the Gene: | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | ||
| OR | ||||||||||||||||||||||||||||
| Specify the HGNC Gene Symbol: | ||||||||||||||||||||||||||||
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HGNC GENE SYMBOL OMIM NO. |
DATABASE NAME
INTERNET ADDRESS |
CURATORS |
| Go Back To Main Index! | ||
|
ABCA12
ATP-binding cassette, sub-family A (ABC1), member 12 607800 |
Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis
http://www.derm-hokudai.jp/ABCA12/ |
Masashi Akiyama and Kaori Sakai |
|
ABCA13
ATP-binding cassette, sub-family A (ABC1), member 13 607807 |
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/ABCA13 |
Johan T. den Dunnen and Ben Pickard |
|
ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4 601691 |
Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/sci-news/abcrmut.htm |
Retina International |
|
ABCB11
ATP-binding cassette, sub-family B (MDR/TAP), member 11 603201 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ABCB11 |
Ammar Husami |
|
ABCB4
ATP-binding cassette, sub-family B (MDR/TAP), member 4 171060 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ABCB4 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
ABCB7
ATP-binding cassette, sub-family B (MDR/TAP), member 7 300135 |
ABCB7 database at LOVD
http://www.LOVD.nl/ABCB7 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 603234 |
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
http://www.retina-international.org/sci-news/abcc6mut.htm |
Retina International |
|
ABCC6
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 603234 |
LOVD at NCBI
http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6 |
Sharon Terry and Tim Hefferon |
|
ABCD1
ATP-binding cassette, sub-family D (ALD), member 1 300371 |
X-linked Adrenoleukodystrophy Database
http://www.x-ald.nl |
Hugo W. Moser Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA. Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr. Amsterdam, The Netherlands. |
|
ABO
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 110300 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
ACAD8
acyl-CoA dehydrogenase family, member 8 604773 |
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=ACAD8 |
Steafnie Kalb |
|
ACADM
acyl-CoA dehydrogenase, C-4 to C-12 straight chain 607008 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ACADM |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
ACADSB
acyl-CoA dehydrogenase, short/branched chain 600301 |
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=ACADSB |
Stefanie Kalb |
|
ACADVL
acyl-CoA dehydrogenase, very long chain 609575 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ACADVL |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
ACE2
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 300335 |
ACE2 database at LOVD
http://www.LOVD.nl/ACE2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ACHE
acetylcholinesterase (Yt blood group) 100740 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
ACOT9
acyl-CoA thioesterase 9 |
ACOT9 database at LOVD
http://www.LOVD.nl/ACOT9 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ACSL4
acyl-CoA synthetase long-chain family member 4 300157 |
ACSL4 database at LOVD
http://www.LOVD.nl/ACSL4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ACTA1
actin, alpha 1, skeletal muscle 102610 |
Laing Laboratory Skeletal muscle alpha-actin (ACTA1)
http://acta1.waimr.uwa.edu.au/home.php?select_db=ACTA1 |
Nigel Laing and Kristen Nowak |
|
ACTA1
actin, alpha 1, skeletal muscle 102610 |
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ACTA1 |
Kristen Nowak and Nigel Laing |
|
ACTC1
actin, alpha, cardiac muscle 1 102540 |
FHC Mutation Database
http://www.angis.org.au/Databases/Heart/heartbreak.html |
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia |
|
ACTC1
actin, alpha, cardiac muscle 1 102540 |
Sarcomere Protein Gene Mutation Database
http://genetics.med.harvard.edu/%7Eseidman/cg3/genes/ACTC_info.html |
NHLBI Program for Genomic Applications, Harvard Medical School. |
|
ACTRT1
actin-related protein T1 300487 |
ACTRT1 database at LOVD
http://www.LOVD.nl/ACTRT1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ACVRL1
activin A receptor type II-like 1 601284 |
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.hhtmutation.org/ |
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK |
|
ADA
adenosine deaminase 608958 |
ADAbase: Mutation registry for Adenosine Deaminase Deficiency
http://bioinf.uta.fi/ADAbase/ |
Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland |
|
ADSL
adenylosuccinate lyase 608222 |
Adenylosuccinate Lyase Mutations Database Home Page
http://www.icp.ucl.ac.be/adsldb/ |
Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium |
|
AFF2
AF4/FMR2 family, member 2 309548 |
AFF2 database at LOVD
http://www.LOVD.nl/AFF2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AGRN
agrin 103320 |
AGRN - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/AGRN |
ddunnen@LUMC.nl, tom.winder@preventiongenetics.com |
|
AGTR2
angiotensin II receptor, type 2 300034 |
AGTR2 database at LOVD
http://www.LOVD.nl/AGTR2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AICDA
activation-induced cytidine deaminase 605257 |
AICDA base: Mutation registry for Aid deficiency
http://bioinf.uta.fi/AICDAbase/ |
Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland |
|
AIFM1
apoptosis-inducing factor, mitochondrion-associated, 1 300169 |
AIFM1 database at LOVD
http://www.LOVD.nl/AIFM1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AIPL1
aryl hydrocarbon receptor interacting protein-like 1 604392 |
Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1
http://www.retina-international.org/sci-news/aipl1mut.htm |
Retina International |
|
AIRE
autoimmune regulator 607358 |
AIREbase: Mutation registry for APECED
http://bioinf.uta.fi/AIREbase/ |
Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland |
|
AKAP14
A kinase (PRKA) anchor protein 14 300462 |
AKAP14 database at LOVD
http://www.LOVD.nl/AKAP14 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AKAP4
A kinase (PRKA) anchor protein 4 300185 |
AKAP4 database at LOVD
http://www.LOVD.nl/AKAP4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9 604001 |
Zhejiang University-Adinovo Center AKAP9 Database
http://www.china-hvp.org/LOVD/?select_db=AKAP9 |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
|
ALB
albumin 103600 |
Albumin mutation database
http://www.albumin.org/ |
Prof. Ulrich Kragh-Hansen, University of Aarhus, Aarhus, Denmark, and Dr. Theodore Peters, Jr., Bassett Healthcare, Cooperstown, NY, USA |
|
ALDH1A1
aldehyde dehydrogenase 1 family, member A1 100640 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH2
aldehyde dehydrogenase 2 family (mitochondrial) 100650 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH3A1
aldehyde dehydrogenase 3 family, member A1 100660 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org/ |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH4A1
aldehyde dehydrogenase 4 family, member A1 606811 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org/ |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDH5A1
aldehyde dehydrogenase 5 family, member A1 610045 |
Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database
http://www.lovd.nl/ALDH5A1 |
Gajja Salomons |
|
ALDH7A1
aldehyde dehydrogenase 7 family, member A1 107323 |
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND
http://www.bh4.org/ |
Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
|
ALDH9A1
aldehyde dehydrogenase 9 family, member A1 602733 |
Human Polymorphisms of ALDH Genes
http://www.aldh.org |
Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A. |
|
ALDOB
aldolase B, fructose-bisphosphate 229600 |
Hereditary Fructose Intolerance/Aldolase
http://www.bu.edu/aldolase/ |
Dean R. Tolan, Boston Univ., U.S.A. |
|
ALG1
asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) 605907 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs Center for Human Genetics Leuven, Belgium |
|
ALG12
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) 607144 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALG13
asparagine-linked glycosylation 13 homolog (S. cerevisiae) 300776 |
ALG13 database at LOVD
http://www.LOVD.nl/ALG13 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ALG2
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) 607905 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALG3
asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) 608750 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALG6
asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 604566 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALG8
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 608103 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALG9
asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) 606941 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
ALOX5AP
arachidonate 5-lipoxygenase-activating protein 603700 |
arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database
http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP |
Belinda Giardine and Joseph Borg |
|
ALPL
alkaline phosphatase, liver/bone/kidney 171760 |
Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
http://www.sesep.uvsq.fr/Database.html |
Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France |
|
AMELX
amelogenin, X-linked 300391 |
AMELX database at LOVD
http://www.LOVD.nl/AMELX |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AMMECR1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 300195 |
AMMECR1 database at LOVD
http://www.LOVD.nl/AMMECR1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AMOT
angiomotin 300410 |
AMOT database at LOVD
http://www.LOVD.nl/AMOT |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ANK2
ankyrin 2, neuronal 106410 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
|
ANK2
ankyrin 2, neuronal 106410 |
Zhejiang University-Adinovo Center ANK2 Database
http://www.china-hvp.org/LOVD/?select_db=ANK2 |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
|
ANO5
anoctamin 5 608662 |
ANO5 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/ANO5 |
Johan T. den Dunnen Leiden Univ. Med Centre |
|
ANO5
anoctamin 5 608662 |
ANO5 LOVD - Leiden Open Variation Database
http://www.medgen.mcgill.ca/ANO5/home.php?select_db=ANO5 |
Véronique Bolduc |
|
AP1S2
adaptor-related protein complex 1, sigma 2 subunit 300629 |
AP1S2 database at LOVD
http://www.LOVD.nl/AP1S2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting Int. Albinism Centre Univ. of Minnesota, U.S.A. |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
http://bioinf.uta.fi/AP3B1base/ |
Mauno Vihinen, Univ. of Tampere, Finland |
|
AP3B1
adaptor-related protein complex 3, beta 1 subunit 603401 |
Mutations of the Adaptin b3a Gene
http://www.retina-international.org/sci-news/adtb3mut.htm |
Retina International |
|
APC
adenomatous polyposis coli 611731 |
The UMD APC mutations database
http://www.umd.be/APC/ |
Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris |
|
APC
adenomatous polyposis coli 611731 |
APC-Database
http://www.LOVD.nl/APC |
Dr. Stefan Aretz and Dr. Waltraut Friedl |
|
APC
adenomatous polyposis coli 611731 |
Zhejiang University-Adinovo Center APC Database
http://china-hvp.org/LOVD/?select_db=APC |
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
|
APC
adenomatous polyposis coli 611731 |
The APC Mutation Database
http://fap.taenzer.me |
Dr. Stefan Aretz and Dr. Waltraut Friedl |
|
APEX2
APEX nuclease (apurinic/apyrimidinic endonuclease) 2 300773 |
APEX2 database at LOVD
http://www.LOVD.nl/APEX2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
APLN
apelin 300297 |
APLN database at LOVD
http://www.LOVD.nl/APLN |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
APOO
apolipoprotein O 300753 |
APOO database at LOVD
http://www.LOVD.nl/APOO |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
APOOL
apolipoprotein O-like |
APOOL database at LOVD
http://www.LOVD.nl/APOOL |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
APP
amyloid beta (A4) precursor protein 104760 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/ |
Marc Cruts Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
AQP1
aquaporin 1 (Colton blood group) 107776 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
AQP2
aquaporin 2 (collecting duct) 107777 |
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
|
AQP9
aquaporin 9 602914 |
Aquaporin 9 (AQP9) database
http://lovd.bx.psu.edu/home.php?select_db=AQP9 |
Belinda Giardine and Joseph Borg |
|
AR
androgen receptor 313700 |
Androgen Receptor
http://androgendb.mcgill.ca/ |
Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada |
|
AR
androgen receptor 313700 |
AR database at LOVD
http://www.LOVD.nl/AR |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARAF
v-raf murine sarcoma 3611 viral oncogene homolog 311010 |
ARAF database at LOVD
http://www.LOVD.nl/ARAF |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARG1
arginase, liver 608313 |
ARG1database at LOVD
http://www.LOVD.nl/ARG1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARG2
arginase, type II 107830 |
Arginase, type II (ARG2) database
http://lovd.bx.psu.edu/home.php?select_db=ARG2 |
Belinda Giardine and Joseph Borg |
|
ARHGAP4
Rho GTPase activating protein 4 300023 |
ARHGAP4 database at LOVD
http://www.LOVD.nl/ARHGAP4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARHGAP6
Rho GTPase activating protein 6 300118 |
ARHGAP6 database at LOVD
http://www.LOVD.nl/ARHGAP6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARHGEF10
Rho guanine nucleotide exchange factor (GEF) 10 608136 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 300267 |
ARHGEF6 database at LOVD
http://www.LOVD.nl/ARHGEF6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX1
armadillo repeat containing, X-linked 1 300362 |
ARMCX1 database at LOVD
http://www.LOVD.nl/ARMCX1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX2
armadillo repeat containing, X-linked 2 300363 |
ARMCX2 database at LOVD
http://www.LOVD.nl/ARMCX2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX3
armadillo repeat containing, X-linked 3 300364 |
ARMCX3 database at LOVD
http://www.LOVD.nl/ARMCX3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX4
armadillo repeat containing, X-linked 4 |
ARMCX4 database at LOVD
http://www.LOVD.nl/ARMCX4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX5
armadillo repeat containing, X-linked 5 |
ARMCX5 database at LOVD
http://www.LOVD.nl/ARMCX5 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARMCX6
armadillo repeat containing, X-linked 6 |
ARMCX6 database at LOVD
http://www.LOVD.nl/ARMCX6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARSD
arylsulfatase D 300002 |
ARSD database at LOVD
http://www.LOVD.nl/ARSD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARSE
arylsulfatase E (chondrodysplasia punctata 1) 300180 |
ARSE database at LOVD
http://www.LOVD.nl/ARSE |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ARSF
arylsulfatase F 300003 |
ARSF database at LOVD
http://www.LOVD.nl/ARSF |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ART4
ADP-ribosyltransferase 4 (Dombrock blood group) 110600 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
ASB11
ankyrin repeat and SOCS box-containing 11 300626 |
ASB11 database at LOVD
http://www.LOVD.nl/ASB11 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASB12
ankyrin repeat and SOCS box-containing 12 |
ASB12 database at LOVD
http://www.LOVD.nl/ASB12 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASB9
ankyrin repeat and SOCS box-containing 9 |
ASB9 database at LOVD
http://www.LOVD.nl/ASB9 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASL
argininosuccinate lyase 608310 |
ASL database at LOVD
http://www.LOVD.nl/ASL |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASMT
acetylserotonin O-methyltransferase 402500 |
ASMT database at LOVD
http://www.LOVD.nl/ASMT |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASMTL
acetylserotonin O-methyltransferase-like 400011 |
ASMTL database at LOVD
http://www.LOVD.nl/ASMTL |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASPA
aspartoacylase (Canavan disease) 608034 |
aspartoacylase (Canavan disease) (ASPA) Variation Database
http://www.LOVD.nl/ASPA |
Gajja Salomons |
|
ASS1
argininosuccinate synthase 1 603470 |
ASS1 database at LOVD
http://www.LOVD.nl/ASS1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ASS1
argininosuccinate synthase 1 603470 |
Argininosuccinate synthetase 1 (ASS1) database
http://lovd.bx.psu.edu/home.php?select_db=ASS1 |
Belinda Giardine and Joseph Borg |
|
ATM
ataxia telangiectasia mutated 607585 |
ATM at LOVD
http://www.LOVD.nl/ATM |
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA |
|
ATP11C
ATPase, class VI, type 11C 300516 |
ATP11C database at LOVD
http://www.LOVD.nl/ATP11C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide 182340 |
ATP1A2 database at LOVD
http://www.LOVD.nl/ATP1A2 |
Boukje de Vries, LUMC, Leiden, The Netherlands |
|
ATP1B4
ATPase, Na+/K+ transporting, beta 4 polypeptide |
ATP1B4 database at LOVD
http://www.LOVD.nl/ATP1B4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATP2B3
ATPase, Ca++ transporting, plasma membrane 3 300014 |
ATP2B3 database at LOVD
http://www.LOVD.nl/ATP2B3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATP6AP2
ATPase, H+ transporting, lysosomal accessory protein 2 300556 |
ATP6AP2 database at LOVD
http://www.LOVD.nl/ATP6AP2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATP7A
ATPase, Cu++ transporting, alpha polypeptide 300011 |
ATP7A database at LOVD
http://www.LOVD.nl/ATP7A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide 606882 |
Wilson Disease Mutation Database
http://www.wilsondisease.med.ualberta.ca/database.asp |
Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada |
|
ATP7B
ATPase, Cu++ transporting, beta polypeptide 606882 |
The UMD ATP7B mutations database
http://www.umd.be/ATP7B/ |
Irene Ceballos, Paris, France |
|
ATP8B1
ATPase, aminophospholipid transporter, class I, type 8B, member 1 602397 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ATP8B1 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) 300032 |
ATRX database at LOVD
http://www.LOVD.nl/ATRX |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ATRX
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) 300032 |
alpha thalassemia/mental Retardation syndrome X-linked (ATRX) database
http://lovd.bx.psu.edu/home.php?select_db=ATRX |
Belinda Giardine and Joseph Borg |
|
ATXN3L
ataxin 3-like |
ATXN3L database at LOVD
http://www.LOVD.nl/ATXN3L |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AUH
AU RNA binding protein/enoyl-CoA hydratase 600529 |
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=AUH |
Stefanie Kalb |
|
AVP
arginine vasopressin 192340 |
Nephrogenic diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
|
AVP
arginine vasopressin 192340 |
nndi ARGININE VASOPRESSIN (AVP)
http://www.medgen.mcgill.ca/nndi/ |
NNDI Administrator and Ellen Buschman |
|
AVPR2
arginine vasopressin receptor 2 300538 |
Nephrogenic Diabetes Insipidus
http://www.medicine.mcgill.ca/nephros/ |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
|
AVPR2
arginine vasopressin receptor 2 300538 |
AVPR2 database at LOVD
http://www.LOVD.nl/AVPR2 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AWAT1
acyl-CoA wax alcohol acyltransferase 1 |
AWAT1 database at LOVD
http://www.LOVD.nl/AWAT1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
AWAT2
acyl-CoA wax alcohol acyltransferase 2 |
AWAT2 database at LOVD
http://www.LOVD.nl/AWAT2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| Go Back To Main Index! | ||
|
B3GALTL
beta 1,3-galactosyltransferase-like 610308 |
B3GALTL - Peters' Plus syndrome at LOVD
http://www.LOVD.nl/B3GALTL |
Janneke Weiss, LUMC, Leiden, Nederland |
|
B4GALT1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 137060 |
Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
|
BAG3
BCL2-associated athanogene 3 603883 |
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/BAG3 |
Johan T. den Dunnen Leiden Univ. Med Centre |
|
BBS1
Bardet-Biedl syndrome 1 209901 |
Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)
http://www.retina-international.org/sci-news/bbs1mut.htm |
Retina International |
|
BBS2
Bardet-Biedl syndrome 2 606151 |
Mutations of the Bardet-Biedl Syndrome Type 2 Gene
http://www.retina-international.org/sci-news/bbs2mut.htm |
Retina International |
|
BBS4
Bardet-Biedl syndrome 4 600374 |
Mutations of the Bardet-Biedl Syndrome Type 4 Gene
http://www.retina-international.org/sci-news/bbs4mut.htm |
Retina International |
|
BBS7
Bardet-Biedl syndrome 7 607590 |
Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)
http://www.retina-international.org/sci-news/bbs7mut.htm |
Retina International |
|
BCAM
basal cell adhesion molecule (Lutheran blood group) 111200 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
|
BCHE
butyrylcholinesterase 177400 |
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
http://bioweb.ensam.inra.fr/ESTHER/general?what=index |
Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France |
|
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein) 606557 |
B-cell CLL/lymphoma 11A (BCL11A) database
http://lovd.bx.psu.edu/home.php?select_db=BCL11A |
Belinda Giardine and Joseph Borg |
|
BCOR
BCL6 co-repressor 300485 |
BCOR database at LOVD
http://www.LOVD.nl/BCOR |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BCORL1
BCL6 co-repressor-like 1 300688 |
BCORL1 database at LOVD
http://www.LOVD.nl/BCORL1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BEND2
BEN domain containing 2 |
BEND2 database at LOVD
http://www.LOVD.nl/BEND2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BEST1
bestrophin 1 607854 |
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/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 |
|
BMP15
bone morphogenetic protein 15 300247 |
BMP15 database at LOVD
http://www.LOVD.nl/BMP15 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BMP2KL
BMP2 inducible kinase-like |
BMP2KL database at LOVD
http://www.LOVD.nl/BMP2KL |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BMX
BMX non-receptor tyrosine kinase 300101 |
BMX database at LOVD
http://www.LOVD.nl/BMX |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BRCA1
breast cancer 1, early onset 113705 |
Breast Cancer
http://research.nhgri.nih.gov/bic/ |
Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A. |
|
BRCA1
breast cancer 1, early onset 113705 |
The UMD BRCA1 mutations database
http://www.umd.be/BRCA1/ |
R. Lidereau |
|
BRCA1
breast cancer 1, early onset 113705 |
Zhejiang University-Adinovo Center BRCA1 Database
http://www.china-hvp.org/LOVD/?select_db=BRCA1 |
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
|
BRCA1
breast cancer 1, early onset 113705 |
LOVD - BReast CAncer 1 - literature unclassified variants (BRCA1)
http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA1 |
Maaike Vreeswijk and Peter Devilee |
|
BRCA2
breast cancer 2, early onset 600185 |
Breast Cancer
http://research.nhgri.nih.gov/bic/ |
Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A. |
|
BRCA2
breast cancer 2, early onset 600185 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen Auerbach, Rockefeller University, New York, USA |
|
BRCA2
breast cancer 2, early onset 600185 |
Zhejiang University-Adinovo Center BRCA2 Database
http://www.china-hvp.org/LOVD/?select_db=BRCA2 |
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
|
BRCA2
breast cancer 2, early onset 600185 |
LOVD - BReast CAncer 2 - literature unclassified variants (BRCA2)
http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA2 |
Maaike Vreeswijk and Peter Devilee |
|
BRIP1
BRCA1 interacting protein C-terminal helicase 1 605882 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
BRWD3
bromodomain and WD repeat domain containing 3 300553 |
BRWD3 database at LOVD
http://www.LOVD.nl/BRWD3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
BSCL2
Berardinelli-Seip congenital lipodystrophy 2 (seipin) 606158 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
BSG
basigin (Ok blood group) 109480 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
BTK
Bruton agammaglobulinemia tyrosine kinase 300300 |
BTK base: Mutation registry for X-linked agammaglobulinemia
http://bioinf.uta.fi/BTKbase/ |
Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland |
|
BTK
Bruton agammaglobulinemia tyrosine kinase 300300 |
BTK database at LOVD
http://www.LOVD.nl/BTK |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| Go Back To Main Index! | ||
|
C1GALT1C1
C1GALT1-specific chaperone 1 300611 |
C1GALT1C1 database at LOVD
http://www.LOVD.nl/C1GALT1C1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
C1QA
complement component 1, q subcomponent, A chain 120550 |
C1QAbase: Mutation registry for C1qA deficiency
http://bioinf.uta.fi/C1QAbase/index.php |
Mauno Vihinen, Univ. of Tampere, Finland |
|
C1QB
complement component 1, q subcomponent, B chain 120570 |
C1QBbase: Mutation registry for C1qB deficiency
http://bioinf.uta.fi/C1QBbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C1QC
complement component 1, q subcomponent, C chain 120575 |
C1QGbase: Mutation registry for C1qG deficiency
http://bioinf.uta.fi/C1QGbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C1S
complement component 1, s subcomponent 120580 |
C1Sbase: Mutation registry for C1s deficiency
http://bioinf.uta.fi/C1Sbase/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C2
complement component 2 217000 |
C2base: Mutation registry for C2 deficiency
http://bioinf.uta.fi/C2base/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C3
complement component 3 120700 |
C3base: Mutation registry for C3 deficiency
http://bioinf.uta.fi/C3base/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C5
complement component 5 120900 |
C5base: Mutation registry for C5 deficiency
http://bioinf.uta.fi/C5base/index2.html |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C6
complement component 6 217050 |
C6base: Mutation registry for C6 deficiency
http://bioinf.uta.fi/C6base/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C7
complement component 7 217070 |
C7base: Mutation registry for C7 deficiency
http://bioinf.uta.fi/C7base/index.php |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C8B
complement component 8, beta polypeptide 120960 |
C8Bbase: Mutation registry for C8B deficiency
http://bioinf.uta.fi/C8Bbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
C9
complement component 9 120940 |
C9base: Mutation registry for C9 deficiency
http://bioinf.uta.fi/C9base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CA2
carbonic anhydrase II 611492 |
CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis
http://bioinf.uta.fi/CA2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CA5B
carbonic anhydrase VB, mitochondrial 300230 |
CA5B database at LOVD
http://www.LOVD.nl/CA5B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 601011 |
CAC1A1A database at LOVD
http://www.LOVD.nl/CACNA1A |
Elles Boon and Boukje de Vries, LUMC, Leiden, Nederland |
|
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://www.china-hvp.org/LOVD/?select_db=CACNA1C |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
|
CACNA1F
calcium channel, voltage-dependent, L type, alpha 1F subunit 300110 |
Mutations of the L-type Calcium-Channel Gene
http://www.retina-international.org/sci-news/cacnamut.htm |
Retina International |
|
CACNA1F
calcium channel, voltage-dependent, L type, alpha 1F subunit 300110 |
CACNA1F database at LOVD
http://www.LOVD.nl/CACNA1F |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CACNA1S
calcium channel, voltage-dependent, L type, alpha 1S subunit 114208 |
CACNA1S at LOVD
http://www.LOVD.nl/CACNA1S |
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, Netherlands |
|
CAPN3
calpain 3, (p94) 114240 |
Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A
http://www.LOVD.nl/CAPN3 |
Johan T. den Dunnen Leiden Univ. Med Centre,Leiden, The Netherlands |
|
CAPN6
calpain 6 300146 |
CAPN6 database at LOVD
http://www.LOVD.nl/CAPN6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family) 300172 |
CASK database at LOVD
http://www.LOVD.nl/CASK |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CASP10
caspase 10, apoptosis-related cysteine peptidase 601762 |
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
http://bioinf.uta.fi/CASP10base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CASP10
caspase 10, apoptosis-related cysteine peptidase 601762 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=CASP10 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
CASP8
caspase 8, apoptosis-related cysteine peptidase 601763 |
CASP8base: Mutation registry for Caspase 8 deficiency
http://bioinf.uta.fi/CASP8base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CASR
calcium-sensing receptor 601199 |
CASRdb Calcium Sensing Receptor Locus Mutation Database
http://www.casrdb.mcgill.ca |
Svetlana Pidasheva, Geoff Hendy, Manyphong Phommarinh, L.D'Souza-Li, McGill University Healt Centre Montreal, Canada |
|
CAV3
caveolin 3 601253 |
Limb-Girdle Muscular Dystrophy type 1C
http://www.LOVD.nl/CAV3 |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
|
CAV3
caveolin 3 601253 |
Zhejiang University-Adinovo Center CAV3 Database
http://www.china-hvp.org/LOVD/?select_db=CAV3 |
Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang |
|
CBS
cystathionine-beta-synthase 236200 |
Cystathionine beta-synthase database
http://www.uchsc.edu/cbs/ |
Jan P. Kraus Univ. of Colorado Denver, U.S.A. |
|
CCDC120
coiled-coil domain containing 120 |
CCDC120 database at LOVD
http://www.LOVD.nl/CCDC120 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CCDC22
coiled-coil domain containing 22 |
CCDC22 database at LOVD
http://www.LOVD.nl/CCDC22 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CCNB3
cyclin B3 300456 |
CCNB3 database at LOVD
http://www.LOVD.nl/CCNB3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CD19
CD19 molecule 107265 |
CD19base: Mutation registry for CD19 deficiency
http://bioinf.uta.fi/CD19base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD247
CD247 molecule 186780 |
CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency
http://bioinf.uta.fi/CD247base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD3D
CD3d molecule, delta (CD3-TCR complex) 186790 |
CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
http://bioinf.uta.fi/CD3Dbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD3E
CD3e molecule, epsilon (CD3-TCR complex) 186830 |
CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
http://bioinf.uta.fi/CD3Ebase/ |
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland |
|
CD3G
CD3g molecule, gamma (CD3-TCR complex) 186740 |
CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency
http://bioinf.uta.fi/CD3Gbase/ |
Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland |
|
CD40
CD40 molecule, TNF receptor superfamily member 5 109535 |
CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)
http://bioinf.uta.fi/CD40base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD40LG
CD40 ligand 300386 |
CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome
http://bioinf.uta.fi/CD40Lbase/ |
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CD40LG
CD40 ligand 300386 |
Immunodeficiency with Increased IgM-The European CD40 Defect Database
http://www.expasy.ch/cd40lbase/cd40lbasestruct.html |
European Society for Immuno deficiencies |
|
CD40LG
CD40 ligand 300386 |
CD40LG database at LOVD
http://www.LOVD.nl/CD40LG |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CD40LG
CD40 ligand 300386 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/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 |
|
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/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/LOVD/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/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/sci-news/repmut.htm |
Retina International |
|
CHM
choroideremia (Rab escort protein 1) 300390 |
CHM database at LOVD
http://www.LOVD.nl/CHM |
D. Baux, Institut Universitaire de Recherche Clinique UFR Médecine Site NORD, Montpellier, France |
|
CHMP4B
chromatin modifying protein 4B 610897 |
CHMP4B database at LOVD
http://www.LOVD.nl/CHMP4B |
Johan T den Dunnen Leiden Univ. Med Centre |
|
CHRDL1
chordin-like 1 300350 |
CHRDL1 database at LOVD
http://www.LOVD.nl/CHRDL1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CHRNG
cholinergic receptor, nicotinic, gamma 100730 |
Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database
http://www.LOVD.nl/CHRNG |
Dr Julie Vogt and Dr Derek Lim |
|
CIITA
class II, major histocompatibility complex, transactivator 600005 |
CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)
http://bioinf.uta.fi/CIITAbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CITED1
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 300149 |
CITED1 database at LOVD
http://www.LOVD.nl/CITED1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CLCN1
chloride channel 1, skeletal muscle 118425 |
CLCN1 - Chloride channel 1, skeletal muscle
http://www.LOVD.nl/CLCN1 |
Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden |
|
CLCN4
chloride channel 4 302910 |
CLCN4 database at LOVD
http://www.LOVD.nl/CLCN4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CLCN5
chloride channel 5 300008 |
CLCN5 database at LOVD
http://www.LOVD.nl/CLCN5 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CLCN7
chloride channel 7 602727 |
CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2
http://bioinf.uta.fi/CLCN7base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
CLDN14
claudin 14 605608 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
CLDN2
claudin 2 300520 |
CLDN2 database at LOVD
http://www.LOVD.nl/CLDN2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CLIC2
chloride intracellular channel 2 300138 |
CLIC2 database at LOVD
http://www.LOVD.nl/CLIC2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CLN3
ceroid-lipofuscinosis, neuronal 3 607042 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN3
ceroid-lipofuscinosis, neuronal 3 607042 |
Mutations of the CLN3 Gene
http://www.retina-international.org/sci-news/cln3mut.htm |
Retina International |
|
CLN4
ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 204300 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN5
ceroid-lipofuscinosis, neuronal 5 608102 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN6
ceroid-lipofuscinosis, neuronal 6, late infantile, variant 606725 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLN8
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 607837 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
CLRN1
clarin 1 606397 |
Mutations of the Usher Syndrome Type 3 Gene (USH3)
http://www.retina-international.org/sci-news/ush3mut.htm |
Retina International |
|
CLRN1
clarin 1 606397 |
The UMD USH3A mutations database
http://www.umd.be/USH3A/ |
A.-F. Roux and D. Baux |
|
CLRN1
clarin 1 606397 |
Retinal and hearing impairment genetic mutation database
https://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CLRN1 |
David Baux |
|
CLRN1
clarin 1 606397 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/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/sci-news/cnga1mut.htm |
Retina International |
|
CNGA2
cyclic nucleotide gated channel alpha 2 300338 |
CNGA2 database at LOVD
http://www.LOVD.nl/CNGA2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CNGA3
cyclic nucleotide gated channel alpha 3 600053 |
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel
http://www.retina-international.org/sci-news/cnga3mut.htm |
Retina International |
|
CNKSR2
connector enhancer of kinase suppressor of Ras 2 300724 |
CNKSR2 database at LOVD
http://www.LOVD.nl/CNKSR2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CNTN1
contactin 1 600016 |
CNTN1 - Leiden Muscular Dystrophy pages
http://www.LOVD.nl/CNTN1 |
Johan T den Dunnen Leiden Univ. Med Centre |
|
CNTNAP2
contactin associated protein-like 2 604569 |
Contactin associated protein-like 2 (CNTNAP2) database
http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2 |
Belinda Giardine and Joseph Borg |
|
COCH
coagulation factor C homolog, cochlin (Limulus polyphemus) 603196 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
COL11A2
collagen, type XI, alpha 2 120290 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
COL1A1
collagen, type I, alpha 1 120150 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL1A2
collagen, type I, alpha 2 120160 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL3A1
collagen, type III, alpha 1 120180 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL3A1
collagen, type III, alpha 1 120180 |
The UMD COL3A1 mutations database
http://www.umd.be/COL3A1/ |
P. Khau van Kien |
|
COL4A5
collagen, type IV, alpha 5 303630 |
ALPORT syndrome and COL4A5 gene Database
http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php |
Genevieve Pont-Kingdon, PhD, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
|
COL4A5
collagen, type IV, alpha 5 303630 |
Collagen, type IV, alpha 5 (COL4A5) Mental Retardation Database
http://www.LOVD.nl/COL4A5 |
Judy Savige |
|
COL4A6
collagen, type IV, alpha 6 303631 |
Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database
http://www.LOVD.nl/COL4A6 |
Judy Savige |
|
COL5A1
collagen, type V, alpha 1 120215 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL5A2
collagen, type V, alpha 2 120190 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
COL6A1
collagen, type VI, alpha 1 120220 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A1 |
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
|
COL6A2
collagen, type VI, alpha 2 120240 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A2 |
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
|
COL6A3
collagen, type VI, alpha 3 120250 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/COL6A3 |
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
|
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/sci-news/crb1mut.htm |
Retina International |
|
CREBBP
CREB binding protein 600140 |
CREBBP - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/CREBBP |
Dorien Peters, Clinical Genetics, LUMC, Leiden |
|
CRTAP
cartilage associated protein 605497 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
|
CRX
cone-rod homeobox 602225 |
Mutations of the Cone Rod Homeobox Gene
http://www.retina-international.org/sci-news/crxmut.htm |
Retina International |
|
CRYAA
crystallin, alpha A 123580 |
CRYAA database at LOVD
http://www.LOVD.nl/CRYAA |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYAB
crystallin, alpha B 123590 |
CRYAB database at LOVD
http://www.LOVD.nl/CRYAB |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBA1
crystallin, beta A1 123610 |
CRYBA1 database at LOVD
http://www.LOVD.nl/CRYBA1 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBA4
crystallin, beta A4 123631 |
CRYBA4 database at LOVD
http://www.LOVD.nl/CRYBA4 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB1
crystallin, beta B1 600929 |
CRYBB1 database at LOVD
http://www.LOVD.nl/CRYBB1 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB2
crystallin, beta B2 123620 |
CRYBB2 database at LOVD
http://www.LOVD.nl/CRYBB2 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYBB3
crystallin, beta B3 123630 |
CRYBB3 database at LOVD
http://www.LOVD.nl/CRYBB3 |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGC
crystallin, gamma C 123680 |
CRYGC database at LOVD
http://www.LOVD.nl/CRYGC |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGD
crystallin, gamma D 123690 |
CRYGD database at LOVD
http://www.LOVD.nl/CRYGD |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYGS
crystallin, gamma S 123730 |
CRYGS database at LOVD
http://www.LOVD.nl/CRYGS |
Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
|
CRYM
crystallin, mu 123740 |
CRYM database at LOVD
http://www.LOVD.nl/CRYM |
Johan T den Dunnen Leiden Univ. Med Centre |
|
CSAG1
chondrosarcoma associated gene 1 |
CSAG1 database at LOVD
http://www.LOVD.nl/CSAG1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CSAG4
CSAG family, member 4 |
CSAG4 database at LOVD
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSAG4 |
Ing. Ivo F.A.C. Fokkema |
|
CSF2RA
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 425000 |
CSF2RA database at LOVD
http://www.LOVD.nl/CSF2RA |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CSNK2A1
casein kinase 2, alpha 1 polypeptide 115440 |
Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database
http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1 |
Belinda Giardine and Joseph Borg |
|
CSTF2
cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 600368 |
CSTF2 database at LOVD
http://www.LOVD.nl/CSTF2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CT45A2
cancer/testis antigen family 45, member A2 300793 |
CT45A2 database at LOVD
http://www.LOVD.nl/CT45A2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CT45A5
cancer/testis antigen family 45, member A5 300796 |
CT45A5 database at LOVD
http://www.LOVD.nl/CT45A5 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CTAG2
cancer/testis antigen 2 300396 |
CTAG2 database at LOVD
http://www.LOVD.nl/CTAG2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CTDP1
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 604927 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
CTPS2
CTP synthase II 300380 |
CTPS2 database at LOVD
http://www.LOVD.nl/CTPS2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
CTSC
cathepsin C 602365 |
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
http://bioinf.uta.fi/CTSCbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
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 |
|
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/LOVD/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 |
Martina Witsch-Baumgartner |
|
DIAPH1
diaphanous homolog 1 (Drosophila) 602121 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
DIAPH2
diaphanous homolog 2 (Drosophila) 300108 |
DIAPH2 database at LOVD
http://www.LOVD.nl/DIAPH2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
DKC1
dyskeratosis congenita 1, dyskerin 300126 |
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
http://bioinf.uta.fi/DKC1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
DKC1
dyskeratosis congenita 1, dyskerin 300126 |
The Telomerase Database
http://telomerase.asu.edu/diseases.html#dkc1 |
Julian J-L Chen at Arizona State University |
|
DKC1
dyskeratosis congenita 1, dyskerin 300126 |
DKC1 database at LOVD
http://www.LOVD.nl/DKC1 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
DLG3
discs, large homolog 3 (Drosophila) 300189 |
DLG3 database at LOVD
http://www.LOVD.nl/DLG3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
DMD
dystrophin 300377 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/DMD |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
DMD
dystrophin 300377 |
The DMD mutations database UMD-DMD France
http://www.umd.be/DMD/W_DMD/index.html |
France Leturcq - Hôpital Cochin, Paris and Sylvie Tuffery-Giraud - Université Montpellier 1 |
|
DMD
dystrophin 300377 |
Duchenne Muscular Dystrophy pages (whole exon changes)
http://www.LOVD.nl/DMD_d |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
DNASE1L1
deoxyribonuclease I-like 1 300081 |
DNASE1L1 database at LOVD
http://www.LOVD.nl/DNASE1L1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
DNM2
dynamin 2 602378 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
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/sci-news/efempmut.htm |
Retina International |
|
EFHC2
EF-hand domain (C-terminal) containing 2 |
EFHC2 database at LOVD
http://www.LOVD.nl/EFHC2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
EFNB1
ephrin-B1 300035 |
EFNB1 database at LOVD
http://www.LOVD.nl/EFNB1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
EGFL6
EGF-like-domain, multiple 6 300239 |
EGFL6 database at LOVD
http://www.LOVD.nl/EGFL6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
EGR2
early growth response 2 129010 |
Mutation Database of Inherited Peripheral Neuropathies
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
EIF2S3
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 300161 |
EIF2S3 database at LOVD
http://www.LOVD.nl/EIF2S3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ELANE
elastase, neutrophil expressed 130130 |
ELA2base: Mutation registry for Cyclic and congenital neutropenia
http://bioinf.uta.fi/ELA2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
ELANE
elastase, neutrophil expressed 130130 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=ELANE |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
ELF4
E74-like factor 4 (ets domain transcription factor) 300775 |
ELF4 database at LOVD
http://www.LOVD.nl/ELF4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ELK1
ELK1, member of ETS oncogene family 311040 |
ELK1 database at LOVD
http://www.LOVD.nl/ELK1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
ELOVL4
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 605512 |
Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene
http://www.retina-international.org/sci-news/elovlmut.htm |
Retina International |
|
EMD
emerin 300384 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/EMD |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
EMD
emerin 300384 |
The UMD EMD mutations database
http://www.umd.be/EMD/ |
G. Bonne, France |
|
ENG
endoglin 131195 |
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.macs.hw.ac.uk/hht/ |
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK |
|
ENOX2
ecto-NOX disulfide-thiol exchanger 2 300282 |
ENOX2 database at LOVD
http://www.LOVD.nl/ENOX2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
EP300
E1A binding protein p300 602700 |
EP300 - Rubinstein-Taybi Syndrome (RSTS)
http://www.LOVD.nl/EP300 |
Dorien Peters, Clinical Genetics, LUMC, Leiden |
|
EPCAM
epithelial cell adhesion molecule 185535 |
InSiGHT - EPCAM
http://www.LOVD.nl/EPCAM |
Michael Woods, Amanda Dohey and Johan den Dunnen |
|
ERCC2
excision repair cross-complementing rodent repair deficiency, complementation group 2 126340 |
Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database
http://lovd.bx.psu.edu/home.php?select_db=ERCC2 |
Belinda Giardine and Joseph Borg |
|
ERMAP
erythroblast membrane-associated protein (Scianna blood group) 609017 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
ESCO2
establishment of cohesion 1 homolog 2 (S. cerevisiae) 609353 |
ESCO2 database at LOVD
http://www.LOVD.nl/ESCO2 |
Birgitt Schuele, USA |
|
ESX1
ESX homeobox 1 300154 |
ESX1 database at LOVD
http://www.LOVD.nl/ESX1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
EXT1
exostoses (multiple) 1 608177 |
Multiple Osteochondroma Mutation Database
http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT1 |
Database Administrators |
|
EXT2
exostoses (multiple) 2 608210 |
Multiple Osteochondroma Mutation Database
http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2 |
Database Administrators |
|
EYA4
eyes absent homolog 4 (Drosophila) 603550 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
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|
F12
coagulation factor XII (Hageman factor) 610619 |
F12base: Mutation registry for Hereditary angioedema type III
http://bioinf.uta.fi/F12base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
F8
coagulation factor VIII, procoagulant component 306700 |
The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS)
http://hadb.org.uk/ |
Dr Geoffrey Kemball-Cook |
|
F8
coagulation factor VIII, procoagulant component 306700 |
F8 database at LOVD
http://www.LOVD.nl/F8 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
F8
coagulation factor VIII, procoagulant component 306700 |
F8 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HA.htm |
Francisco Vidal, Lorena Ramirez |
|
F9
coagulation factor IX 300746 |
Haemophilia B Mutation Database
http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html |
P.M Green, F. Giannelli Division of Genetics & Development 7th Floor Guys Tower, GKT School of Medicine, Guy's Hospital London SE1 9RT United Kingdom and consortium |
|
F9
coagulation factor IX 300746 |
F9 database at LOVD
http://www.LOVD.nl/F9 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
F9
coagulation factor IX 300746 |
F9 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HB.htm |
Francisco Vidal, Lorena Ramirez |
|
FAAH2
fatty acid amide hydrolase 2 300654 |
FAAH2 database at LOVD
http://www.LOVD.nl/FAAH2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM120C
family with sequence similarity 120C 300741 |
FAM120C database at LOVD
http://www.LOVD.nl/FAM120C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM122B
family with sequence similarity 122B |
FAM122B database at LOVD
http://www.LOVD.nl/FAM122B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM122C
family with sequence similarity 122C |
FAM122C database at LOVD
http://www.LOVD.nl/FAM122C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM123B
family with sequence similarity 123B 300647 |
FAM123B database at LOVD
http://www.LOVD.nl/FAM123B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM133A
family with sequence similarity 133, member A |
FAM133A database at LOVD
http://www.LOVD.nl/FAM133A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM155B
family with sequence similarity 155, member B |
FAM155B database at LOVD
http://www.LOVD.nl/FAM155B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM3A
family with sequence similarity 3, member A 300492 |
FAM3A database at LOVD
http://www.LOVD.nl/FAM3A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM45B
family with sequence similarity 45, member B |
FAM45B database at LOVD
http://www.LOVD.nl/FAM45B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM46D
family with sequence similarity 46, member D |
FAM46D database at LOVD
http://www.LOVD.nl/FAM46D |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM47A
family with sequence similarity 47, member A |
FAM47A database at LOVD
http://www.LOVD.nl/FAM47A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM47B
family with sequence similarity 47, member B |
FAM47B database at LOVD
http://www.LOVD.nl/FAM47B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM47C
family with sequence similarity 47, member C |
FAM47C database at LOVD
http://www.LOVD.nl/FAM47C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM50A
family with sequence similarity 50, member A 300453 |
FAM50A database at LOVD
http://www.LOVD.nl/FAM50A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM9A
family with sequence similarity 9, member A 300477 |
FAM9A database at LOVD
http://www.LOVD.nl/FAM9A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FAM9C
family with sequence similarity 9, member C 300479 |
FAM9C database at LOVD
http://www.LOVD.nl/FAM9C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FANCA
Fanconi anemia, complementation group A 607139 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCB
Fanconi anemia, complementation group B 300515 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCC
Fanconi anemia, complementation group C 227645 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCD2
Fanconi anemia, complementation group D2 227646 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCE
Fanconi anemia, complementation group E 600901 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCF
Fanconi anemia, complementation group F 603467 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCG
Fanconi anemia, complementation group G 602956 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCI
Fanconi anemia, complementation group I 611360 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCL
Fanconi anemia, complementation group L 608111 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
|
FANCM
Fanconi anemia, complementation group M 609644 |
Fanconi Anaemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/ |
Arleen Auerbach, Rockefeller University, New York, USA |
|
FAS
Fas (TNF receptor superfamily, member 6) 134637 |
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS
http://research.nhgri.nih.gov/ALPS/ |
Jennifer Puck, Stephen Straus, Michael Lenardo, Janet Dale, Joie Davis, Lilia Lei Bi, Jin Wang, NIAID & NHGRI, NIH, U.S.A. |
|
FAS
Fas (TNF receptor superfamily, member 6) 134637 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FAS |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
FASLG
Fas ligand (TNF superfamily, member 6) 134638 |
FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)
http://bioinf.uta.fi/FASLGbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
FASLG
Fas ligand (TNF superfamily, member 6) 134638 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FASLG |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
FATE1
fetal and adult testis expressed 1 300450 |
FATE1 database at LOVD
http://www.LOVD.nl/FATE1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FBN1
fibrillin 1 134797 |
The UMD FBN1 mutations database
http://www.umd.be/FBN1/ |
Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France |
|
FBN2
fibrillin 2 612570 |
The UMD FBN2 mutations database
http://194.167.35.168/FBN2/ |
G. Collod-Béroud |
|
FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64) 146760 |
FCGR1Abase: Mutation registry for CD64 deficiency
http://bioinf.uta.fi/FCGR1Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
FCGR3A
Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 146740 |
FCGR3Abase: Mutation registry for Natural killer cell deficiency
http://bioinf.uta.fi/FCGR3Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
FGA
fibrinogen alpha chain 134820 |
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/ |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
|
FGB
fibrinogen beta chain 134830 |
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/ |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
|
FGD1
FYVE, RhoGEF and PH domain containing 1 300546 |
FGD1 database at LOVD
http://www.LOVD.nl/FGD1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FGG
fibrinogen gamma chain 134850 |
A Database For Human Fibrinogen Variants
http://www.geht.org/databaseang/fibrinogen/ |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
|
FH
fumarate hydratase 136850 |
FH database at LOVD
http://www.LOVD.nl/FH |
Jean-Pierre Bayley, LUMC, Leiden |
|
FHL1
four and a half LIM domains 1 300163 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/FHL1 |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
|
FIGF
c-fos induced growth factor (vascular endothelial growth factor D) 300091 |
FIGF database at LOVD
http://www.LOVD.nl/FIGF |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FKBP10
FK506 binding protein 10, 65 kDa 607063 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, UK. |
|
FKRP
fukutin related protein 606596 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/FKRP |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
|
FKTN
fukutin 607440 |
FCMD - Fukuyama type congenital muscular dystrophy
http://www.LOVD.nl/FKTN |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
|
FLCN
folliculin 607273 |
Folliculin (FLCN) variation database
http://www.lovd.nl/FLCN |
Dr. Derek Lim, Prof. Eamonn Maher, European Birt-Hogg-Dube Consortium, University of Birmingham School of Medicine, UK |
|
FLCN
folliculin 607273 |
The Folliculin Mutation Database
http://skingenedatabase.com/ |
Database Administration |
|
FLNA
filamin A, alpha 300017 |
Filamin A, alpha (FLNA) Mental Retardation Database
http://www.LOVD.nl/FLNA |
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands |
|
FLNC
filamin C, gamma 102565 |
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/FLNC |
Johan T den Dunnen Leiden Univ. Med Centre |
|
FLT1
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) 165070 |
Fms-related tyrosine kinase 1 (FLT1) database
http://lovd.bx.psu.edu/home.php?select_db=FLT1 |
Belinda Giardine and Joseph Borg |
|
FMO3
flavin containing monooxygenase 3 136132 |
The Homo sapients FMO3 Allelic Variant Database
http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3/ |
Elizabeth A. Shephard, Sarah Addou Dept. Biochem. & Molecular Biol. Univ. College London. UK Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK |
|
FMR1
fragile X mental retardation 1 309550 |
FMR1 database at LOVD
http://www.LOVD.nl/FMR1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FMR1NB
fragile X mental retardation 1 neighbor |
FMR1NB database at LOVD
http://www.LOVD.nl/FMR1NB |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FOXL2
forkhead box L2 605597 |
The Human FOXL2 Allelic Variant Database
http://medgen.ugent.be/LOVD2/home.php?select_db=FOXL2 |
Diane Beysen, Elfride de Baere Centre for Medical Genetics Gent, Belgium |
|
FOXN1
forkhead box N1 600838 |
FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)
http://bioinf.uta.fi/FOXN1base/ |
Mauno Vihinen & Claudio Pignata, Univ. of Tampere, Tampere, Finland |
|
FOXO4
forkhead box O4 300033 |
FOXO4 database at LOVD
http://www.LOVD.nl/FOXO4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FOXP3
forkhead box P3 300292 |
FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX
http://bioinf.uta.fi/FOXP3base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
FOXP3
forkhead box P3 300292 |
FOXP3 database at LOVD
http://www.LOVD.nl/FOXP3 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FOXP3
forkhead box P3 300292 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=FOXP3 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
FOXR2
forkhead box R2 |
FOXR2 database at LOVD
http://www.LOVD.nl/FOXR2 |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
|
FRMD7
FERM domain containing 7 300628 |
FRMD7 database at LOVD
http://www.LOVD.nl/FRMD7 |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
|
FRMPD3
FERM and PDZ domain containing 3 |
FRMPD3 database at LOVD
http://www.LOVD.nl/FRMPD3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FRMPD4
FERM and PDZ domain containing 4 |
FRMPD4 database at LOVD
http://www.LOVD.nl/FRMPD4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FSCN2
fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 607643 |
Mutations of the Fascin Gene
http://www.retina-international.org/sci-news/fscn2mut.htm |
Retina International |
|
FTHL17
ferritin, heavy polypeptide-like 17 300308 |
FTHL17 database at LOVD
http://www.LOVD.nl/FTHL17 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FTSJ1
FtsJ homolog 1 (E. coli) 300499 |
FTSJ1 database at LOVD
http://www.LOVD.nl/FTSJ1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FUNDC1
FUN14 domain containing 1 |
FUNDC1 database at LOVD
http://www.LOVD.nl/FUNDC1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
FUT1
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 211100 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
FUT2
fucosyltransferase 2 (secretor status included) 182100 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry; Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
FUT3
fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 111100 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology,Albert Einstein College of Medicine New York, NY. U.S.A |
|
FUT6
fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 136836 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
FUT7
fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 602030 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
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|
G6PD
glucose-6-phosphate dehydrogenase 305900 |
G6PD Mutations
http://www.bioinf.org.uk/g6pd/ |
Colin Kwok, Department of Biochemistry, Faculty of Medicine, The University of Hong Kong & Andrew C.R. Martin Department of Biochemistry and Molecular Biology, University College London |
|
G6PD
glucose-6-phosphate dehydrogenase 305900 |
G6PD database at LOVD
http://www.LOVD.nl/G6PD |
Mental Retardation database |
|
GAA
glucosidase, alpha; acid 606800 |
GAA - Pompe disease (glycogen storage disease type II)
http://www.LOVD.nl/GAA |
Johan T. den Dunnen, LUMC, The Netherlands, Arnold Reuser & Marian Kroos, EUR, Rotterdam, Nederland |
|
GAA
glucosidase, alpha; acid 606800 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GAA |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
GAB3
GRB2-associated binding protein 3 300482 |
GAB3 database at LOVD
http://www.LOVD.nl/GAB3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GABRE
gamma-aminobutyric acid (GABA) A receptor, epsilon 300093 |
GABRE database at LOVD
http://www.LOVD.nl/GABRE |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GABRQ
gamma-aminobutyric acid (GABA) receptor, theta 300349 |
GABRQ database at LOVD
http://www.LOVD.nl/GABRQ |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GALT
galactose-1-phosphate uridylyltransferase 606999 |
Galactosaemia
http://www.ich.bris.ac.uk/galtdb/ |
Linda Tyfield, David Carmichael, Inst. Child Health, Univ. Bristol, Bristol, UK |
|
GALT
galactose-1-phosphate uridylyltransferase 606999 |
Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database
http://arup.utah.edu/database/galactosemia/GALT_welcome.php |
Rong Mao and Fernanda Calderon, Department of Pathology, University of Utah, USA. |
|
GAMT
guanidinoacetate N-methyltransferase 601240 |
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GAMT |
Gajja Salomons |
|
GAN
gigaxonin 605379 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
GARS
glycyl-tRNA synthetase 600287 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
GATM
glycine amidinotransferase (L-arginine:glycine amidinotransferase) 602360 |
Guanidinoacetate N-methyltransferase (GAMT) Variation Database
http://www.LOVD.nl/GATM |
Gajja Salomons |
|
GBA
glucosidase, beta, acid 606463 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GBA |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
GCH1
GTP cyclohydrolase 1 600225 |
GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database
http://www.bh4.org/ |
N. Blau, Univ. Children's Hospital,Zurich, J.L. Dhont- Faculté libre de Médicine,Lille |
|
GCK
glucokinase (hexokinase 4) 138079 |
Monogenic Diabetes
http://www.LOVD.nl/GCK |
Monique Losekoot and Vincent Janmaat |
|
GCNT2
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 600429 |
GCNT2 database at LOVD
http://www.LOVD.nl/GCNT2 |
Johan T den Dunnen Leiden Univ. Med Centre |
|
GDAP1
ganglioside-induced differentiation-associated protein 1 606598 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
GDPD2
glycerophosphodiester phosphodiesterase domain containing 2 |
GDPD2 database at LOVD
http://www.LOVD.nl/GDPD2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GEMIN8
gem (nuclear organelle) associated protein 8 |
GEMIN8 database at LOVD
http://www.LOVD.nl/GEMIN8 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GFI1
growth factor independent 1 transcription repressor 600871 |
GFI1base: Mutation registry for SCN and NI-CINA
http://bioinf.uta.fi/GFI1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
GHR
growth hormone receptor 600946 |
LOVD growth
http://www.LOVD.nl/GHR |
LA Metherell and MO Savage |
|
GIGYF2
GRB10 interacting GYF protein 2 612003 |
PARK11 Parkinson's disease Mutation Database
http://www.LOVD.nl/PARK11 |
The Parkinson's Institute |
|
GJA1
gap junction protein, alpha 1, 43kDa 121014 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
GJA1
gap junction protein, alpha 1, 43kDa 121014 |
The Connexin-deafness homepage
http://davinci.crg.es/deafness/ |
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
|
GJA3
gap junction protein, alpha 3, 46kDa 121015 |
GJA3 database at LOVD
http://www.LOVD.nl/GJA3 |
Johan T den Dunnen Leiden Univ. Med Centre |
|
GJA8
gap junction protein, alpha 8, 50kDa 600897 |
GJA8 database at LOVD
http://www.LOVD.nl/GJA8 |
Johan T den Dunnen Leiden Univ. Med Centre |
|
GJB1
gap junction protein, beta 1, 32kDa 304040 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
GJB1
gap junction protein, beta 1, 32kDa 304040 |
The Connexin-deafness homepage
http://davinci.crg.es/deafness/ |
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
|
GJB2
gap junction protein, beta 2, 26kDa 121011 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
GJB2
gap junction protein, beta 2, 26kDa 121011 |
The Connexin-deafness homepage
http://davinci.crg.es/deafness/ |
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
|
GJB2
gap junction protein, beta 2, 26kDa 121011 |
The UMD DFNB1-GJB2 mutations database
http://www.umd.be/DFNB1-GJB2/ |
A.-F. Roux and D. Baux |
|
GJB2
gap junction protein, beta 2, 26kDa 121011 |
CCHMC - Human Genetics Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=GJB2 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
GJB3
gap junction protein, beta 3, 31kDa 603324 |
The Connexin-deafness homepage
http://davinci.crg.es/deafness/ |
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
|
GJB3
gap junction protein, beta 3, 31kDa 603324 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
GJB6
gap junction protein, beta 6, 30kDa 604418 |
The Connexin-deafness homepage
http://davinci.crg.es/deafness/ |
Ester Ballana, Marina Ventayol, R Rabionet, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
|
GJB6
gap junction protein, beta 6, 30kDa 604418 |
Hereditary Hearing Loss Homepage
http://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/LOVD/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/LOVD/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 |
|
GNAS
GNAS complex locus 139320 |
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/GNAS |
Johan T. den Dunnen |
|
GNAT2
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 139340 |
Mutations of the Transducin Subunits
http://www.retina-international.org/sci-news/gntmut.htm |
Retina International |
|
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 603824 |
GNE database at LOVD
http://www.LOVD.nl/GNE |
Johan T den Dunnen Leiden Univ. Med Centre |
|
GNL3L
guanine nucleotide binding protein-like 3 (nucleolar)-like |
GNL3L database at LOVD
http://www.LOVD.nl/GNL3L |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GP1BB
glycoprotein Ib (platelet), beta polypeptide 138720 |
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html |
Dermot Kenny, Royal College of Surgeons in Ireland |
|
GP9
glycoprotein IX (platelet) 173515 |
Bernard-Soulier Syndrome database
http://www.bernardsoulier.org/index.html |
Dermot Kenny, Royal College of Surgeons in Ireland |
|
GPC4
glypican 4 300168 |
GPC4 database at LOVD
http://www.LOVD.nl/GPC4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPKOW
G patch domain and KOW motifs |
GPKOW database at LOVD
http://www.LOVD.nl/GPKOW |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPM6B
glycoprotein M6B 300051 |
GPM6B database at LOVD
http://www.LOVD.nl/GPM6B |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPM6B
glycoprotein M6B 300051 |
Glycoprotein M6B (GPM6B) database
http://lovd.bx.psu.edu/home.php?select_db=GPM6B |
Belinda Giardine and Joseph Borg |
|
GPR101
G protein-coupled receptor 101 300393 |
GPR101 database at LOVD
http://www.LOVD.nl/GPR101 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR112
G protein-coupled receptor 112 |
GPR112 database at LOVD
http://www.LOVD.nl/GPR112 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR119
G protein-coupled receptor 119 300513 |
GPR119 database at LOVD
http://www.LOVD.nl/GPR119 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR143
G protein-coupled receptor 143 300500 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota |
|
GPR143
G protein-coupled receptor 143 300500 |
Mutations of the OA1 Gene
http://www.retina-international.org/sci-news/oa1mut.htm |
Retina International |
|
GPR173
G protein-coupled receptor 173 300253 |
GPR173 database at LOVD
http://www.LOVD.nl/GPR173 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR174
G protein-coupled receptor 174 |
GPR174 database at LOVD
http://www.LOVD.nl/GPR174 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR50
G protein-coupled receptor 50 300207 |
GPR50 database at LOVD
http://www.LOVD.nl/GPR50 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR64
G protein-coupled receptor 64 300572 |
GPR64 database at LOVD
http://www.LOVD.nl/GPR64 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GPR82
G protein-coupled receptor 82 300748 |
GPR82 database at LOVD
http://www.LOVD.nl/GPR82 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
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/LOVD/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/sci-news/rhokmut.htm |
Retina International |
|
GRPR
gastrin-releasing peptide receptor 305670 |
GRPR database at LOVD
http://www.LOVD.nl/GRPR |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GSPT2
G1 to S phase transition 2 300418 |
GSPT2 database at LOVD
http://www.LOVD.nl/GSPT2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GTPBP6
GTP binding protein 6 (putative) 300124 |
GTPBP6 database at LOVD
http://www.LOVD.nl/GTPBP6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GUCY2D
guanylate cyclase 2D, membrane (retina-specific) 600179 |
Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene
http://www.retina-international.org/sci-news/gcmut.htm |
Retina International |
|
GUCY2F
guanylate cyclase 2F, retinal 300041 |
GUCY2F database at LOVD
http://www.LOVD.nl/GUCY2F |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GYG2
glycogenin 2 300198 |
GYG2 database at LOVD
http://www.LOVD.nl/GYG2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
GYPA
glycophorin A (MNS blood group) 111300 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
|
GYPB
glycophorin B (MNS blood group) 111740 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
|
GYPC
glycophorin C (Gerbich blood group) 110750 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
|
GYPE
glycophorin E (MNS blood group) 138590 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
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|
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/LOVD/home.php?select_db=HAX1 |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
|
HBA1
hemoglobin, alpha 1 141800 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBA1
hemoglobin, alpha 1 141800 |
Alpha-1 globin (HBA1) database
http://lovd.bx.psu.edu/home.php?select_db=HBA1 |
Belinda Giardine and Joseph Borg |
|
HBA2
hemoglobin, alpha 2 141850 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBA2
hemoglobin, alpha 2 141850 |
Alpha-2 globin (HBA2) database
http://lovd.bx.psu.edu/home.php?select_db=HBA2 |
Belinda Giardine and Joseph Borg |
|
HBB
hemoglobin, beta 141900 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBB
hemoglobin, beta 141900 |
Beta globin (HBB) database
http://lovd.bx.psu.edu/home.php?select_db=HBB |
Belinda Giardine and Joseph Borg |
|
HBD
hemoglobin, delta 142000 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBD
hemoglobin, delta 142000 |
Delta globin (HBD) database
http://lovd.bx.psu.edu/home.php?select_db=HBD |
Belinda Giardine and Joseph Borg |
|
HBG1
hemoglobin, gamma A 142200 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBG1
hemoglobin, gamma A 142200 |
A-gamma globin (HBG1) database
http://lovd.bx.psu.edu/home.php?select_db=HBG1 |
Belinda Giardine and Joseph Borg |
|
HBG2
hemoglobin, gamma G 142250 |
HbVar: A Database of Human Hemoglobin Variants and Thalassemias
http://globin.cse.psu.edu/globin/hbvar/menu.html |
Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
HBG2
hemoglobin, gamma G 142250 |
G-gamma globin (HBG2) databse
http://lovd.bx.psu.edu/home.php?select_db=HBG2 |
Belinda Giardine and Joseph Borg |
|
HBS1L
HBS1-like (S. cerevisiae) 612450 |
HBS1-like (HBS1L) database
http://lovd.bx.psu.edu/home.php?select_db=HBS1L |
Belinda Giardine and Joseph Borg |
|
HCCS
holocytochrome c synthase (cytochrome c heme-lyase) 300056 |
HCCS database at LOVD
http://www.LOVD.nl/HCCS |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HCFC1
host cell factor C1 (VP16-accessory protein) 300019 |
HCFC1 database at LOVD
http://www.LOVD.nl/HCFC1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HDAC6
histone deacetylase 6 300272 |
HDAC6 database at LOVD
http://www.LOVD.nl/HDAC6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HDAC8
histone deacetylase 8 300269 |
HDAC8 database at LOVD
http://www.LOVD.nl/HDAC8 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HDHD1A
haloacid dehalogenase-like hydrolase domain containing 1A 306480 |
HDHD1A database at LOVD
http://www.LOVD.nl/HDHD1A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HDX
highly divergent homeobox |
http://www.LOVD.nl/HDX
http://www.LOVD.nl/HAUS7 |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
|
HEPH
hephaestin 300167 |
HEPH database at LOVD
http://www.LOVD.nl/HEPH |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HEXA
hexosaminidase A (alpha polypeptide) 606869 |
Hexosaminidase A; Tay-Sachs Disease
http://www.hexdb.mcgill.ca |
Feige Kaplan, Manyphong Phommarinh, McGill Univ. Montreal, Canada |
|
HEXB
hexosaminidase B (beta polypeptide) 606873 |
HEXB Locus Database
http://www.hexdb.mcgill.ca |
F. Kaplan, Paulo Cordeiro, Manyphong Phommarinh, McGill University, Montreal, Canada |
|
HGD
homogentisate 1,2-dioxygenase 607474 |
AKUdatabaseHomogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page
http://www.alkaptonuria.cib.csic.es/index.htm |
Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de BernabéCentro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain (Inactive) |
|
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 610453 |
LOVD - Leiden Open Variation Database
http://www.LOVD.nl/HGSNAT |
Stéphanie Durand |
|
HLA-A
major histocompatibility complex, class I, A 142800 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-B
major histocompatibility complex, class I, B 142830 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-C
major histocompatibility complex, class I, C 142840 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DMA
major histocompatibility complex, class II, DM alpha 142855 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DMB
major histocompatibility complex, class II, DM beta 142856 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DOA
major histocompatibility complex, class II, DO alpha 142930 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DOB
major histocompatibility complex, class II, DO beta 600629 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DPA1
major histocompatibility complex, class II, DP alpha 1 142880 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DPA2
major histocompatibility complex, class II, DP alpha 2 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DPA3
major histocompatibility complex, class II, DP alpha 3 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 142858 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DPB2
major histocompatibility complex, class II, DP beta 2 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1 146880 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DQA2
major histocompatibility complex, class II, DQ alpha 2 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1 604305 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DQB2
major histocompatibility complex, class II, DQ beta 2 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DQB3
major histocompatibility complex, class II, DQ beta 3 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRA
major histocompatibility complex, class II, DR alpha 142860 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 142857 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB2
major histocompatibility complex, class II, DR beta 2 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB3
major histocompatibility complex, class II, DR beta 3 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB4
major histocompatibility complex, class II, DR beta 4 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB5
major histocompatibility complex, class II, DR beta 5 604776 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB6
major histocompatibility complex, class II, DR beta 6 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB7
major histocompatibility complex, class II, DR beta 7 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB8
major histocompatibility complex, class II, DR beta 8 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-DRB9
major histocompatibility complex, class II, DR beta 9 (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-E
major histocompatibility complex, class I, E 143010 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-F
major histocompatibility complex, class I, F 143110 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-G
major histocompatibility complex, class I, G 142871 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-H
major histocompatibility complex, class I, H (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-J
major histocompatibility complex, class I, J (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-K
major histocompatibility complex, class I, K (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-L
major histocompatibility complex, class I, L, pseudogene |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-N
major histocompatibility complex, class I, N (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-P
major histocompatibility complex, class I, P (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-S
major histocompatibility complex, class I, S (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-T
major histocompatibility complex, class I, T (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-U
major histocompatibility complex, class I, U (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-V
major histocompatibility complex, class I, V (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-W
major histocompatibility complex, class I, W (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-X
major histocompatibility complex, class I, X (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-Y
major histocompatibility complex, class I, Y (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HLA-Z
major histocompatibility complex, class I, Z (pseudogene) |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 600234 |
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=HMGCS2 |
Stefanie Kalb |
|
HMGN5
high-mobility group nucleosome binding domain 5 300385 |
HMGN5 database at LOVD
http://www.LOVD.nl/HMGN5 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HNF1A
HNF1 homeobox A 142410 |
HNF1A at LOVD
http://www.LOVD.nl/HNF1A |
Monique Losekoot, LUMC, Leiden, Netherlands |
|
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/sci-news/epmut.htm |
Retina International |
|
HPS1
Hermansky-Pudlak syndrome 1 604982 |
Mutations of the HPS Gene
http://www.retina-international.org/sci-news/hpsmut.htm |
Retina International |
|
HPS3
Hermansky-Pudlak syndrome 3 606118 |
Mutations of the HPS3 Gene
http://www.retina-international.org/sci-news/hps3mut.htm |
Retina International |
|
HPS3
Hermansky-Pudlak syndrome 3 606118 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
|
HPS4
Hermansky-Pudlak syndrome 4 606682 |
Mutations of the Human light ear Gene (le, HPS4)
http://www.retina-international.org/sci-news/lemut.htm |
Retina International |
|
HS6ST2
heparan sulfate 6-O-sulfotransferase 2 300545 |
HS6ST2 database at LOVD
http://www.LOVD.nl/HS6ST2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HSD17B10
hydroxysteroid (17-beta) dehydrogenase 10 300256 |
HSD17B10 database at LOVD
http://www.LOVD.nl/HSD17B10 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HSD17B10
hydroxysteroid (17-beta) dehydrogenase 10 300256 |
Innsbruck Metabolic Diseases Pages
http://lovd.i-med.ac.at/home.php?select_db=HSD17B10 |
Johannes Zschocke |
|
HSF4
heat shock transcription factor 4 602438 |
HSF4 database at LOVD
http://www.LOVD.nl/HSF4 |
Johan T den Dunnen Leiden Univ. Med Centre |
|
HSN2
hereditary sensory neuropathy, type II 608620 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
HSPB1
heat shock 27kDa protein 1 602195 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
HSPB8
heat shock 22kDa protein 8 608014 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
HTATSF1
HIV-1 Tat specific factor 1 300346 |
HTATSF1 database at LOVD
http://www.LOVD.nl/HTATSF1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HTR2C
5-hydroxytryptamine (serotonin) receptor 2C 312861 |
HTR2C database at LOVD
http://www.LOVD.nl/HTR2C |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A 182139 |
HTR3A database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=HTR3A |
Steffi Wilke and Dr. Beate Niesler, Heidelberg University |
|
HUWE1
HECT, UBA and WWE domain containing 1 300697 |
HUWE1 database at LOVD
http://www.LOVD.nl/HUWE1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| Go Back To Main Index! | ||
|
ICAM4
intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 111250 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
|
ICOS
inducible T-cell co-stimulator 604558 |
ICOSbase: Mutation registry for ICOS deficiency
http://bioinf.uta.fi/ICOSbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IDS
iduronate 2-sulfatase 309900 |
IDS database at LOVD
http://www.LOVD.nl/IDS |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IFNGR1
interferon gamma receptor 1 107470 |
IFNGR1base: Mutation registry for IFNγ1-receptor deficiency
http://bioinf.uta.fi/IFNGR1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IFNGR2
interferon gamma receptor 2 (interferon gamma transducer 1) 147569 |
IFNGR2base: Mutation registry for IFNγ2-receptor deficiency
http://bioinf.uta.fi/IFNGR2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IGBP1
immunoglobulin (CD79A) binding protein 1 300139 |
IGBP1 database at LOVD
http://www.LOVD.nl/IGBP1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IGF1
insulin-like growth factor 1 (somatomedin C) 147440 |
LOVD growth
http://www.LOVD.nl/IGF1 |
Jan Maarten Wit and Marie-Jose Walenkamp |
|
IGF1R
insulin-like growth factor 1 receptor 147370 |
LOVD growth
http://www.LOVD.nl/IGF1R |
Roland Pfaeffle and Wieland Kiess |
|
IGF2
insulin-like growth factor 2 (somatomedin A) 147470 |
LOVD growth
http://www.LOVD.nl/IGF2 |
Irene Netchine and Yves le Bouc |
|
IGFALS
insulin-like growth factor binding protein, acid labile subunit 601489 |
IGFALS database at LOVD
http://www.LOVD.nl/IGFALS |
H Jasper and HM Domené |
|
IGHC
Immunoglobulin heavy constant group |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr/ |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGHD
immunoglobulin heavy constant delta 147170 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGHG2
immunoglobulin heavy constant gamma 2 (G2m marker) 147110 |
IGHG2base: Mutation registry for IgG2 deficiency
http://bioinf.uta.fi/IGHG2base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IGHJ2
immunoglobulin heavy joining 2 147010 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGHM
immunoglobulin heavy constant mu 147020 |
IGHMbase: Mutation registry for µ heavy-chain deficiency
http://bioinf.uta.fi/IGHMbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IGHMBP2
immunoglobulin mu binding protein 2 600502 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
IGHV@
immunoglobulin heavy variable group 147070 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGKC
immunoglobulin kappa constant 147200 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGKJ@
immunoglobulin kappa joining group 146970 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGKV@
immunoglobulin kappa variable group 146980 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGLC1
immunoglobulin lambda constant 1 (Mcg marker) 147220 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGLJ@
immunoglobulin lambda joining group 147230 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGLL1
immunoglobulin lambda-like polypeptide 1 146770 |
IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency
http://bioinf.uta.fi/IGLL1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IGLV@
immunoglobulin lambda variable group 147240 |
IMGT; the international ImMunoGeneTics information system ®
http://imgt.cines.fr |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
|
IGSF1
immunoglobulin superfamily, member 1 300137 |
IGSF1 database at LOVD
http://www.LOVD.nl/IGSF1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IKBKAP
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 603722 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
IKBKG
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 300248 |
IKBKGbase: Mutation registry for Nemo deficiency
http://bioinf.uta.fi/IKBKGbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IL12B
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 161561 |
IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
http://bioinf.uta.fi/IL12Bbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IL12RB1
interleukin 12 receptor, beta 1 601604 |
IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency
http://bioinf.uta.fi/IL12RB1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IL13RA1
interleukin 13 receptor, alpha 1 300119 |
IL13RA1 database at LOVD
http://www.LOVD.nl/IL13RA1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IL13RA2
interleukin 13 receptor, alpha 2 300130 |
IL13RA2 database at LOVD
http://www.LOVD.nl/IL13RA2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IL1RAPL1
interleukin 1 receptor accessory protein-like 1 300206 |
IL1RAPL1 database at LOVD
http://www.LOVD.nl/IL1RAPL1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IL1RAPL2
interleukin 1 receptor accessory protein-like 2 300277 |
IL1RAPL2 database at LOVD
http://www.LOVD.nl/IL1RAPL2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IL2RA
interleukin 2 receptor, alpha 147730 |
IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency
http://bioinf.uta.fi/IL2RAbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IL2RG
interleukin 2 receptor, gamma 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/LOVD/home.php?select_db=IL2RG |
Ammar Husami and Theru A. Sivakumaran |
|
IL2RG
interleukin 2 receptor, gamma 308380 |
IL2RG database at LOVD
http://www.LOVD.nl/IL2RG |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IL7R
interleukin 7 receptor 146661 |
IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency
http://bioinf.uta.fi/IL7Rbase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
IL9R
interleukin 9 receptor 300007 |
IL9R database at LOVD
http://www.LOVD.nl/IL9R |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IMPDH1
IMP (inosine monophosphate) dehydrogenase 1 146690 |
Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene
http://www.retina-international.org/sci-news/impdhmut.htm |
Retina International |
|
INE1
inactivation escape 1 (non-protein coding) 300164 |
INE1 database at LOVD
http://www.LOVD.nl/INE1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IQSEC2
IQ motif and Sec7 domain 2 300522 |
IQSEC2 database at LOVD
http://www.LOVD.nl/IQSEC2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IRAK1
interleukin-1 receptor-associated kinase 1 300283 |
IRAK1 database at LOVD
http://www.LOVD.nl/IRAK1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
IRAK4
interleukin-1 receptor-associated kinase 4 606883 |
IRAK4base: Mutation registry for IRAK4 deficiency
http://bioinf.uta.fi/IRAK4base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
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 |
|
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 |
|
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 |
|
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. |
|
ITIH5L
inter-alpha (globulin) inhibitor H5-like |
ITIH5L database at LOVD
http://www.LOVD.nl/ITIH5L |
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 |
| Go Back To Main Index! | ||
|
JAG1
jagged 1 601920 |
CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD/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://genomed.org/LOVD/ALGS/home.php?select_db=JAG1 |
Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
|
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 |
|
JUP
junction plakoglobin 173325 |
Gene Connection for the Heart; Naxos disease database
http://www.fsm.it/cardmoc/ |
S.G. N. Protonotarios, Naxos, Greece & C. Napolitano, Pavia, Italy |
|
JUP
junction plakoglobin 173325 |
ARVD/C Genes Variants Database
http://www.arvcdatabase.info |
Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| Go Back To Main Index! | ||
|
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 |
|
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://genomed.org/LOVD/LQTs/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/LOVD/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://www.china-hvp.org/LOVD/?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://www.china-hvp.org/LOVD/?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://www.china-hvp.org/LOVD/?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://genomed.org/LOVD/LQTs/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/LOVD/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 |
| 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://www.genomed.org/LOVD/mma/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/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/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://www.genomed.org/LOVD/mma/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/LOVD/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 131100 |
The UMD MEN1 mutations database
http://www.umd.be/MEN1/ |
Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France |
|
MERTK
c-mer proto-oncogene tyrosine kinase 604705 |
Mutations of the MER Receptor Tyrosine Kinase Gene
http://www.retina-international.org/sci-news/mertkmut.htm |
Retina International |
|
MFN2
mitofusin 2 608507 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium |
|
MFSD8
major facilitator superfamily domain containing 8 611124 |
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/ |
Sara E. Mole MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
|
MGAT2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 602616 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
|
MICA
MHC class I polypeptide-related sequence A 600169 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
MICB
MHC class I polypeptide-related sequence B 602436 |
IMGT/HLA Database
http://www.ebi.ac.uk/imgt/hla/ |
SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
|
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/sci-news/mkksmut.htm |
Retina International |
|
MLH1
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 |
Hereditary Non-Polyposis Colorectal Cancer, HNPCC
http://www.insight-group.org/ |
International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): 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://www.china-hvp.org/LOVD/?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://www.china-hvp.org/LOVD/?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://www.genomed.org/LOVD/mma/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://www.genomed.org/LOVD/mma/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://www.china-hvp.org/LOVD/?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://www.genomed.org/LOVD/mma/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 |
|
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://www.china-hvp.org/LOVD/?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://www.china-hvp.org/LOVD/?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/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://www.genomed.org/LOVD/mma/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://www.genomed.org/lovd/mma/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://www.genomed.org/lovd/mma/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/LOVD/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/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/LOVD/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 |
|
NCRNA00105
non-protein coding RNA 105 |
NCRNA00105 database at LOVD
http://www.LOVD.nl/NCRNA00105 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
NCRNA00236
non-protein coding RNA 236 |
CXorf25 database at LOVD
http://www.LOVD.nl/CXorf25 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
NDP
Norrie disease (pseudoglioma) 300658 |
Mutations of the Norrie Disease Gene
http://www.retina-international.org/sci-news/ndgmut.htm |
Retina International |
|
NDRG1
N-myc downstream regulated 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 |
|
NOTCH3
Notch homolog 3 (Drosophila) 600276 |
NOTCH3 - CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical
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/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/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/sci-news/nyxmut.htm |
Retina International |
| Go Back To Main Index! | ||
|
OCA2
oculocutaneous albinism II 611409 |
Mutations of the P-Gene
http://www.retina-international.org/sci-news/pgenemut.htm |
Retina International |
|
OCA2
oculocutaneous albinism II 611409 |
Albinism Database
http://albinismdb.med.umn.edu/ |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
|
OCRL
oculocerebrorenal syndrome of Lowe 300535 |
Database of the OCRL1 Mutations Causing Lowe Syndrome
http://research.nhgri.nih.gov/lowe/ |
Robert L. Nussbaum, Sharon F. Suchy, Ti Lin, Genetic Disease Research Branch, NHGRI/NIH Bethesda, USA |
|
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/sci-news/opa1mut.htm |
Retina International |
|
OPA1
optic atrophy 1 (autosomal dominant) 605290 |
eOPA1
http://lbbma.univ-angers.fr/lbbma.php?id=9 |
Patrizia Bonneau, CHU Angers - Inserm, Departement de Biochimie et Genetique, 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/sci-news/cppmut.htm |
Retina International |
|
OPN1MW
opsin 1 (cone pigments), medium-wave-sensitive 303800 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/sci-news/cppmut.htm |
Retina International |
|
OPN1SW
opsin 1 (cone pigments), short-wave-sensitive 190900 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)
http://www.retina-international.org/sci-news/cppmut.htm |
Retina International |
|
OTC
ornithine carbamoyltransferase 300461 |
Ornithine Transcarbamylase Deficiency Website
http://ureacycle.cnmcresearch.org/otc/ |
Hiroki Morizono, Mendel Tuchman, Children's National Medical Center, Washington DC, USA |
|
OTC
ornithine carbamoyltransferase 300461 |
OTC - Ornithine transcarbamylase deficiency
http://www.LOVD.nl/OTC |
Bert Bakker, LUMC, Leiden, Nederland |
|
OTOF
otoferlin 603681 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
|
OTOF
otoferlin 603681 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD/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 |
|
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/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/LOVD/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/sci-news/pdcmut.htm |
Retina International |
|
PDE6A
phosphodiesterase 6A, cGMP-specific, rod, alpha 180071 |
Mutations of the Phosphodiesterase type 6
http://www.retina-international.org/sci-news/pdemut.htm |
Retina International |
|
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 |
|
PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 601865 |
Osteogenesis Imperfecta Variant Database
http://oi.gene.le.ac.uk/home.php?select_db=PLOD2 |
Raymond Dalgleish |
|
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://www.china-hvp.org/LOVD/?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://www.china-hvp.org/LOVD/?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/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/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/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/sci-news/prp31mut.htm |
Retina International |
|
PRPF8
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 607300 |
Mutations of the Precursor mRNA Processing Protein 8
http://www.retina-international.org/sci-news/prpc8mut.htm |
Retina International |
|
PRPH2
peripherin 2 (retinal degeneration, slow) 179605 |
Mutations of the RDS/Peripherin Gene
http://www.retina-international.org/sci-news/rdsmut.htm |
Retina International |
|
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 |
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|
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 |
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|
RAB27A
RAB27A, member RAS oncogene family 603868 |
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
http://bioinf.uta.fi/RAB27Abase/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
RAB27A
RAB27A, member RAS oncogene family 603868 |
Mutations of the Small Nucleotide-binding Protein 27a Gene
http://www.retina-international.org/sci-news/rab27mut.htm |
Retina International |
|
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 |
|
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/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/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
http://www.retina-international.org/sci-news/rhomut.htm |
Retina International |
|
RIPPLY1
ripply1 homolog (zebrafish) 300575 |
RIPPLY1 database at LOVD
http://www.LOVD.nl/RIPPLY1 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RLIM
ring finger protein, LIM domain interacting 300379 |
RLIM database at LOVD
http://www.LOVD.nl/RLIM |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RNF113A
ring finger protein 113A |
RNF113A database at LOVD
http://www.LOVD.nl/RNF113A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RNF128
ring finger protein 128 300439 |
RNF128 database at LOVD
http://www.LOVD.nl/RNF128 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RNF135
ring finger protein 135 611358 |
RNF135 at LOVD
http://www.LOVD.nl/RNF135 |
Monique Losekoot, LUMC, Leiden, Netherlands |
|
ROM1
retinal outer segment membrane protein 1 180721 |
Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene
http://www.retina-international.org/sci-news/rommut.htm |
Retina International |
|
ROR2
receptor tyrosine kinase-like orphan receptor 2 602337 |
ROR2 database at LOVD
http://www.LOVD.nl/ROR2 |
Jacopo Celli, LUMC, The Netherlands |
|
RP1
retinitis pigmentosa 1 (autosomal dominant) 603937 |
Mutations of the RP1 Gene
http://www.retina-international.org/sci-news/rp1mut.htm |
Retina International |
|
RP2
retinitis pigmentosa 2 (X-linked recessive) 312600 |
Mutations of the RP2 Gene
http://www.retina-international.org/sci-news/rp2mut.htm |
Retina International |
|
RP2
retinitis pigmentosa 2 (X-linked recessive) 300757 |
RP2 database at LOVD
http://www.LOVD.nl/RP2 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPA4
replication protein A4, 30kDa 300767 |
RPA4 database at LOVD
http://www.LOVD.nl/RPA4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPE65
retinal pigment epithelium-specific protein 65kDa 180069 |
Mutations of the RPE65 Gene
http://www.retina-international.org/sci-news/rpe65mut.htm |
Retina International |
|
RPGR
retinitis pigmentosa GTPase regulator 312610 |
Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene
http://www.retina-international.org/sci-news/rpgrmut.htm |
Retina International |
|
RPGR
retinitis pigmentosa GTPase regulator 312610 |
RPGR @ The Human Genetics Unit Edinburgh U.K.
http://rpgr.hgu.mrc.ac.uk/ |
Xinhua Shu and Alan Wright |
|
RPGR
retinitis pigmentosa GTPase regulator 312610 |
RPGR database at LOVD
http://www.LOVD.nl/RPGR |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPGRIP1
retinitis pigmentosa GTPase regulator interacting protein 1 605446 |
Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene
http://www.retina-international.org/sci-news/rpgripmu.htm |
Retina International |
|
RPL10
ribosomal protein L10 312173 |
RPL10 database at LOVD
http://www.LOVD.nl/RPL10 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPL11
ribosomal protein L11 604175 |
Diamond-Blackfan Anemia, ribosomal protein L11 (RPL11)
http://www.dbagenes.unito.it/home.php?select_db=RPL11 |
Illenia Boria and Ugo Ramenghi |
|
RPL35A
ribosomal protein L35a 180468 |
Diamond-Blackfan Anemia, ribosomal protein L35a (RPL35A)
http://www.dbagenes.unito.it/home.php?select_db=RPL35A |
Illenia Boria and Ugo Ramenghi |
|
RPL36A
ribosomal protein L36a |
RPL36A database at LOVD
http://www.LOVD.nl/RPL36A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPL39
ribosomal protein L39 601904 |
RPL39 database at LOVD
http://www.LOVD.nl/RPL39 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPL5
ribosomal protein L5 603634 |
Diamond-Blackfan Anemia, ribosomal protein L5 (RPL5)
http://www.dbagenes.unito.it/home.php?select_db=RPL5 |
Illenia Boria and Ugo Ramenghi |
|
RPL9P7
ribosomal protein L9 pseudogene 7 |
RPL9P7 database at LOVD
http://www.LOVD.nl/RPL9P7 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPS17
ribosomal protein S17 180472 |
Diamond-Blackfan Anemia
ribosomal protein S17 (RPS17)
http://www.dbagenes.unito.it/home.php?select_db=RPS17 |
Illenia Boria and Ugo Ramenghi |
|
RPS19
ribosomal protein S19 603474 |
Diamond-Blackfan Anemia ribosomal protein S19 (RPS19)
http://www.dbagenes.unito.it/home.php?select_db=RPS19 |
Illenia Boria and Ugo Ramenghi |
|
RPS24
ribosomal protein S24 602412 |
Diamond-Blackfan Anemia
ribosomal protein S24 (RPS24)
http://www.dbagenes.unito.it/home.php?select_db=RPS24 |
Illenia Boria and Ugo Ramenghi |
|
RPS26P11
ribosomal protein S26 pseudogene 11 |
RPS26P11 database at LOVD
http://www.LOVD.nl/RPS26P11 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPS4X
ribosomal protein S4, X-linked 312760 |
RPS4X database at LOVD
http://www.LOVD.nl/RPS4X |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPS6KA3
ribosomal protein S6 kinase, 90kDa, polypeptide 3 300075 |
Coffin-Lowry Syndrome
http://alsace.u-strasbg.fr/chimbio/diag/coffin/index.html |
University of Strasbourg, France |
|
RPS6KA3
ribosomal protein S6 kinase, 90kDa, polypeptide 3 300075 |
RPS6KA3 database at LOVD
http://www.LOVD.nl/RPS6KA3 |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPS6KA6
ribosomal protein S6 kinase, 90kDa, polypeptide 6 300303 |
RPS6KA6 database at LOVD
http://www.LOVD.nl/RPS6KA6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
RPS7
ribosomal protein S7 603658 |
Diamond-Blackfan Anemia
ribosomal protein S7 (RPS7)
http://www.dbagenes.unito.it/home.php?select_db=RPS7 |
Illenia Boria and Ugo Ramenghi |
|
RS1
retinoschisin 1 312700 |
X-Linked Juvenile Retinoschisis
http://www.LOVD.nl/RS1 |
Markus Preising & Johan den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
|
RS1
retinoschisin 1 312700 |
Mutations of the X-linked Retinoschisis Gene
http://www.retina-international.org/sci-news/xlrsmut.htm |
Retina International |
|
RYR1
ryanodine receptor 1 (skeletal) 180901 |
Leiden Muscular Dystrophy pages
http://www.LOVD.nl/RYR1 |
Johan T. den Dunnen Leiden Univ. Med Centre |
|
RYR2
ryanodine receptor 2 (cardiac) 180902 |
Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia
http://www.fsm.it/cardmoc/ |
C. Napolitano, Luciana deGiuli and Andrea Zuanetti, Pavia, Italy |
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|
SACS
spastic ataxia of Charlevoix-Saguenay (sacsin) 604490 |
SACSIN- Related autosomal recessive ataxia
http://www.medgen.mcgill.ca/SACSIN/ |
Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada |
|
SAG
S-antigen; retina and pineal gland (arrestin) 181031 |
Mutations of the Arrestin Gene
http://www.retina-international.org/sci-news/sagmut.htm |
Retina International |
|
SAGE1
sarcoma antigen 1 300359 |
SAGE1 database at LOVD
http://www.LOVD.nl/SAGE1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SASH3
SAM and SH3 domain containing 3 300441 |
SASH3 database at LOVD
http://www.LOVD.nl/SASH3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SATL1
spermidine/spermine N1-acetyl transferase-like 1 |
SATL1 database at LOVD
http://www.LOVD.nl/SATL1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SBDS
Shwachman-Bodian-Diamond syndrome 607444 |
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
http://bioinf.uta.fi/SBDSbase/ |
László Maródi and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
|
SBF2
SET binding factor 2 607697 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
|
SCML2
sex comb on midleg-like 2 (Drosophila) 300208 |
SCML2 database at LOVD
http://www.LOVD.nl/SCML2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SCN4A
sodium channel, voltage-gated, type IV, alpha subunit 603967 |
SCN4A at LOVD
http://www.LOVD.nl/SCN4A |
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
|
SCN4B
sodium channel, voltage-gated, type IV, beta 608256 |
Zhejiang University-Adinovo Center SCN4B Database
http://china-hvp.org/LOVD/?select_db=SCN4B |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
|
SCN5A
sodium channel, voltage-gated, type V, alpha subunit 600163 |
Long QT Syndrome mutation database
http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
|
SCN5A
sodium channel, voltage-gated, type V, alpha subunit 600163 |
Gene Connection for the Heart
http://www.fsm.it/cardmoc/ |
P. Brugada, Alalst, Belgium; J. Brugada, Banyoles, Spain; R. Brugada, Houston, Texas, U.S.A.; A.A.M. Wilde Amsterdam, The Netherlands |
|
SCN5A
sodium channel, voltage-gated, type V, alpha subunit 600163 |
Zhejiang University-Adinovo Center SCN5A Database
http://china-hvp.org/LOVD/?select_db=SCN5A |
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
|
SCNN1A
sodium channel, nonvoltage-gated 1 alpha 600228 |
SCNN1A Database at LOVD
http://www.LOVD.nl/SCNN1A |
Azad AK Ontario Cancer Institute, Toronto, Canada |
|
SCNN1B
sodium channel, nonvoltage-gated 1, beta 600760 |
SCNN1B Database at LOVD
http://www.LOVD.nl/SCNN1B |
Azad AK Ontario Cancer Institute, Toronto, Canada |
|
SCNN1G
sodium channel, nonvoltage-gated 1, gamma 600761 |
SCNN1G Database at LOVD
http://www.LOVD.nl/SCNN1G |
Azad AK Ontario Cancer Institute, Toronto, Canada |
|
SDHA
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 600857 |
SDHA at LOVD
http://www.LOVD.nl/SDHA |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SDHB
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 185470 |
SDHB at LOVD
http://www.LOVD.nl/SDHB |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SDHC
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 602413 |
SDHC at LOVD
http://www.LOVD.nl/SDHC |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SDHD
succinate dehydrogenase complex, subunit D, integral membrane protein 602690 |
SDHD at LOVD
http://www.LOVD.nl/SDHD |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
|
SEPN1
selenoprotein N, 1 606210 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SEPN1 |
Johan den Dunnen, Tom Winder |
|
SEPT6
septin 6 300683 |
SEPT6 database at LOVD
http://www.LOVD.nl/SEPT6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SEPT9
septin 9 604061 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB,) University of Antwerp (UA), Belgium |
|
SERPINA1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 107400 |
A1ATVar: A1-antitrypsin database
http://www.goldenhelix.org/a1atvar/ |
G.P. Patrinos and S. Zaimidou |
|
SERPINA1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 107400 |
CCHMC - Human Genetics Mutation Database
http://www.LOVD.nl/SERPINA1 |
Ammar Husami and Theru A. Sivakumaran |
|
SERPINA7
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 314200 |
SERPINA7 database at LOVD
http://www.LOVD.nl/SERPINA7 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SERPINC1
serpin peptidase inhibitor, clade C (antithrombin), member 1 107300 |
Antithrombin III mutation database
http://www1.imperial.ac.uk/medicine/about/divisions/departmentofmedicine/experimentalmedicine/haematology/coag/antithrombin/ |
David A. Lane, Imperial college, Sch. of Med., London, U.K. |
|
SERPINF1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 172860 |
Osteogenesis Imperfecta Variation Database
http://www.le.ac.uk/genetics/collagen |
Raymond Dalgleish |
|
SERPING1
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 606860 |
SERPING1base: Mutation registry for Hereditary angioedema
http://bioinf.uta.fi/SERPING1base/ |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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SERPINH1
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 600943 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants
http://www.le.ac.uk/genetics/collagen/ |
Raymond Dalgleish, Leicester, U.K. |
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SETX
senataxin 608465 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
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SETX
senataxin 608465 |
UCLA Neurogenetics SETX Database
http://149.142.212.78/LOVD/ |
Abhishek Goel, Giovanni Coppola, and Brent Fogel |
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SFRS17A
splicing factor, arginine/serine-rich 17A 465000 |
SFRS17A database at LOVD
http://www.LOVD.nl/SFRS17A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SGCA
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 600119 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCA |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
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SGCB
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 600900 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCB |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
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SGCD
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 601411 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCD |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
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SGCE
sarcoglycan, epsilon 604149 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCE |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
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SGCG
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 608896 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCG |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
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SGCZ
sarcoglycan, zeta 608113 |
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCZ |
Johan den Dunnen, LUMC, Leiden, Netherlands |
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SH2D1A
SH2 domain containing 1A 300490 |
SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
http://bioinf.uta.fi/SH2D1Abase/ |
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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SH2D1A
SH2 domain containing 1A 300490 |
CCHMC - Human Genetics Mutation Database
http://www.LOVD.nl/SH2D1A |
Ammar Husami and Theru A. Sivakumaran |
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SH3KBP1
SH3-domain kinase binding protein 1 300374 |
SH3KBP1 database at LOVD
http://www.LOVD.nl/SH3KBP1 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SH3TC2
SH3 domain and tetratricopeptide repeats 2 608206 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
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SHOX
short stature homeobox 312865 |
SHOX database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=SHOX |
Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold |
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SHROOM2
shroom family member 2 300103 |
SHROOM2 database at LOVD
http://www.LOVD.nl/SHROOM2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SHROOM4
shroom family member 4 300579 |
SHROOM4 database at LOVD
http://www.LOVD.nl/SHROOM4 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SIAH1L
seven in absentia homolog 1-like (Drosophila) |
SIAH1L database at LOVD
http://www.LOVD.nl/SIAH1L |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC10A3
solute carrier family 10 (sodium/bile acid cotransporter family), member 3 312090 |
SLC10A3 database at LOVD
http://www.LOVD.nl/SLC10A3 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC12A6
solute carrier family 12 (potassium/chloride transporters), member 6 604878 |
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/ |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
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SLC14A1
solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 111000 |
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
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SLC16A2
solute carrier family 16, member 2 (monocarboxylic acid transporter 8) 300095 |
SLC16A2 database at LOVD
http://www.LOVD.nl/SLC16A2 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC22A5
solute carrier family 22 (organic cation/carnitine transporter), member 5 603377 |
Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database
http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php |
Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
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SLC25A13
solute carrier family 25, member 13 (citrin) 603859 |
SLC25A13
http://www.LOVD.nl/SLC25A13 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SLC25A14
solute carrier family 25 (mitochondrial carrier, brain), member 14 300242 |
SLC25A14 database at LOVD
http://www.LOVD.nl/SLC25A14 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
|
SLC25A15
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 603861 |
SLC25A15 database at LOVD
http://www.LOVD.nl/SLC25A15 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC25A43
solute carrier family 25, member 43 300641 |
SLC25A43 database at LOVD
http://www.LOVD.nl/SLC25A43 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC25A5
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 300150 |
SLC25A5 database at LOVD
http://www.LOVD.nl/SLC25A5 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC25A6
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 403000 |
SLC25A6 database at LOVD
http://www.LOVD.nl/SLC25A6 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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SLC26A4
solute carrier family 26, member 4 605646 |
Hereditary Hearing Loss Homepage
http://webh01.ua.ac.be/hhh/ |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
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SLC26A4
solute carrier family 26, member 4 605646 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD/home.php?select_db=SLC26A4 |
Ammar Husami and Theru A. Sivakumaran |
|
SLC29A3
solute carrier family 29 (nucleoside transporters), member 3 612373 |
SLC29A3 database at LOVD
http://www.LOVD.nl/SLC29A3 |
Dr Neil Morgan and Dr. Derek Lim |
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SLC35C1
solute carrier family 35, member C1 605881 |
Congenital Disorder of Glycosylation pages
http://www.euroglycanet.org/ |
Gert Matthijs Center for Human Genetics Leuven, Belgium |
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