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HGVS LSDBs Listing

Locus Specific Mutation Databases

Last Update 23rd May 2011

IMPORTANT NOTE:

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.

If you wish to find an Approved gene symbol please select HGNC Search.

If your gene is not in these lists, you may like to check the "Disease Centred", "Mitochondrial Mutations" or "Other mutation Databases" database links as it may be in one of those.

If you wish to add an LSDB please go to the LSDB Submission Page   Please note that some LSDBs have a Curator vacancy - if you would like to serve please contact the acting curator via that database.

Please select the first letter of the Gene: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
OR
Specify the HGNC Gene Symbol:
HGNC GENE SYMBOL
OMIM NO.
DATABASE NAME
INTERNET ADDRESS
CURATORS
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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  
Go Back To Main Index!
QDPR
quinoid dihydropteridine reductase
261630
Quinoid Dihydropteridinereductase deficiency- BIOMED database
http://www.bh4.org/  
N. Blau, Univ.Children's Hospital, Zurich J.L. Dhont, Faculté libre de Médicine, Lille, France I.Dianzani, Univ.Torino, Torino, Italy  
Go Back To Main Index!
RAB27A
RAB27A, member RAS oncogene family
603868
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
http://bioinf.uta.fi/RAB27Abase/  
Mauno Vihinen, Univ. of Tampere, Tampere, Finland  
RAB27A
RAB27A, member RAS oncogene family
603868
Mutations of the Small Nucleotide-binding Protein 27a Gene
http://www.retina-international.org/sci-news/rab27mut.htm  
Retina International  
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  
Go Back To Main Index!
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  
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.  
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  
SETX
senataxin
608465
UCLA Neurogenetics SETX Database
http://149.142.212.78/LOVD/  
Abhishek Goel, Giovanni Coppola, and Brent Fogel  
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  
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  
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  
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  
SGCE
sarcoglycan, epsilon
604149
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCE  
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands  
SGCG
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
608896
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCG  
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands  
SGCZ
sarcoglycan, zeta
608113
Leiden Muscular Dystrophy Pages
http://www.LOVD.nl/SGCZ  
Johan den Dunnen, LUMC, Leiden, Netherlands  
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  
SH2D1A
SH2 domain containing 1A
300490
CCHMC - Human Genetics Mutation Database
http://www.LOVD.nl/SH2D1A  
Ammar Husami and Theru A. Sivakumaran  
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  
SH3TC2
SH3 domain and tetratricopeptide repeats 2
608206
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/  
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium  
SHOX
short stature homeobox
312865
SHOX database at Heidelberg University
http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=SHOX  
Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold  
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  
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  
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  
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  
SLC12A6
solute carrier family 12 (potassium/chloride transporters), member 6
604878
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/  
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium  
SLC14A1
solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
111000
Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home  
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A  
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  
SLC22A5
solute carrier family 22 (organic cation/carnitine transporter), member 5
603377
Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database
http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php  
Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA  
SLC25A13
solute carrier family 25, member 13 (citrin)
603859
SLC25A13
http://www.LOVD.nl/SLC25A13  
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy  
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  
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  
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  
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  
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  
SLC26A4
solute carrier family 26, member 4
605646
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database