A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
G6PD glucose-6-phosphate dehydrogenase 305900 G6PD Mutations 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 Mental Retardation database
GAA glucosidase, alpha; acid 606800 GAA - Pompe disease (glycogen storage disease type II) Johan T. den Dunnen, LUMC, The Netherlands, Arnold Reuser & Marian Kroos, EUR, Rotterdam, Nederland
GAA glucosidase, alpha; acid 606800 CCHMC - Human Genetics Mutation Database 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 Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 300093 GABRE database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GABRQ gamma-aminobutyric acid (GABA) receptor, theta 300349 GABRQ database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 610290 Colon cancer gene variant databases Mamata Sivagnanam, John-Paul Plazzer and Johan T. den Dunnen
GALT galactose-1-phosphate uridylyltransferase 606999 Galactosaemia 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 Rong Mao and Fernanda Calderon, Department of Pathology, University of Utah, USA.
GAMT guanidinoacetate N-methyltransferase 601240 Guanidinoacetate N-methyltransferase (GAMT) Variation Database Gajja Salomons
GAN gigaxonin 605379 Inherited Peripheral Neuropathies Mutation Database 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 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 Gajja Salomons
GBA glucosidase, beta, acid 606463 CCHMC - Human Genetics Mutation Database 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 N. Blau, Univ. Children's Hospital,Zurich, J.L. Dhont- Faculté libre de Médicine,Lille
GCK glucokinase (hexokinase 4) 138079 Monogenic Diabetes Monique Losekoot and Vincent Janmaat
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 600429 GCNT2 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
GDAP1 ganglioside-induced differentiation-associated protein 1 606598 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
GDAP1 ganglioside-induced differentiation-associated protein 1 606598 MITOchondrial DYNamics variation pages Julien CASSEREAU
GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 \N GDPD2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GEMIN8 gem (nuclear organelle) associated protein 8 \N GEMIN8 database at LOVD 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 Mauno Vihinen, Univ. of Tampere, Tampere, Finland
GHR growth hormone receptor 600946 LOVD growth LA Metherell and MO Savage
GIGYF2 GRB10 interacting GYF protein 2 612003 PARK11 Parkinson's disease Mutation Database The Parkinson's Institute
GJA1 gap junction protein, alpha 1, 43kDa 121014 Hereditary Hearing Loss Homepage 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 Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
GJA3 gap junction protein, alpha 3, 46kDa 121015 GJA3 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
GJA8 gap junction protein, alpha 8, 50kDa 600897 GJA8 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
GJB1 gap junction protein, beta 1, 32kDa 304040 Inherited Peripheral Neuropathies Mutation Database 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 Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
GJB2 gap junction protein, beta 2, 26kDa 121011 The Connexin-deafness homepage 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 A.-F. Roux and D. Baux
GJB2 gap junction protein, beta 2, 26kDa 121011 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
GJB2 gap junction protein, beta 2, 26kDa 121011 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
GJB3 gap junction protein, beta 3, 31kDa 603324 The Connexin-deafness homepage Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
GJB3 gap junction protein, beta 3, 31kDa 603324 Hereditary Hearing Loss Homepage 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 Hereditary Hearing Loss Homepage 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 Ammar Husami and Theru A. Sivakumaran
GJB6 gap junction protein, beta 6, 30kDa 604418 The Connexin-deafness homepage Ester Ballana, Marina Ventayol, R Rabionet, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
GK glycerol kinase 300474 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
GLA galactosidase, alpha 300644 GLA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLA galactosidase, alpha 300644 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
GLOD5 glyoxalase domain containing 5 \N GLOD5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLRA1 glycine receptor, alpha 1 138491 GLRA1 database at LOVD Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands
GLRA2 glycine receptor, alpha 2 305990 GLRA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLRA4 glycine receptor, alpha 4 \N GLRA4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLUD2 glutamate dehydrogenase 2 300144 GLUD2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GM2A GM2 ganglioside activator 272750 GM2A Locus Database F. Kaplan, Paulo Cordeiro, McGill University, Montreal, Canada
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 139312 LOVD 3.0 shared installation (GNAL) Satya R. Vemula, University of Tennessee
GNAS GNAS complex locus 139320 LOVD - Leiden Open Variation Database Johan T. den Dunnen
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 139340 Mutations of the Transducin Subunits Retina International
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 603824 GNE database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like \N GNL3L database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GP1BB glycoprotein Ib (platelet), beta polypeptide 138720 Bernard-Soulier Syndrome database Dermot Kenny, Royal College of Surgeons in Ireland
GP9 glycoprotein IX (platelet) 173515 Bernard-Soulier Syndrome database Dermot Kenny, Royal College of Surgeons in Ireland
GPC4 glypican 4 300168 GPC4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPKOW G patch domain and KOW motifs \N GPKOW database at LOVD Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
GPM6B glycoprotein M6B 300051 Glycoprotein M6B (GPM6B) database Belinda Giardine and Joseph Borg
GPM6B glycoprotein M6B 300051 GPM6B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR101 G protein-coupled receptor 101 300393 GPR101 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR112 G protein-coupled receptor 112 \N GPR112 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR119 G protein-coupled receptor 119 300513 GPR119 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR143 G protein-coupled receptor 143 300500 Mutations of the OA1 Gene Retina International
GPR143 G protein-coupled receptor 143 300500 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota
GPR173 G protein-coupled receptor 173 300253 GPR173 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR174 G protein-coupled receptor 174 \N GPR174 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR50 G protein-coupled receptor 50 300207 GPR50 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR64 G protein-coupled receptor 64 300572 GPR64 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR82 G protein-coupled receptor 82 300748 GPR82 database at LOVD 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 David Baux, Inserm
GPR98 G protein-coupled receptor 98 602851 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
GPRASP1 G protein-coupled receptor associated sorting protein 1 300417 GPRASP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPRASP2 G protein-coupled receptor associated sorting protein 2 \N GPRASP2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GRIA3 glutamate receptor, ionotrophic, AMPA 3 305915 GRIA3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GRIPAP1 GRIP1 associated protein 1 300408 GRIPAP1 database at LOVD 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 Retina International
GRN granulin 138945 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
GRPR gastrin-releasing peptide receptor 305670 GRPR database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GSPT2 G1 to S phase transition 2 300418 GSPT2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GTPBP6 GTP binding protein 6 (putative) 300124 GTPBP6 database at LOVD 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 Retina International
GUCY2F guanylate cyclase 2F, retinal 300041 GUCY2F database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GYG2 glycogenin 2 300198 GYG2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GYPA glycophorin A (MNS blood group) 111300 Blood Group Antigen Mutation Database 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 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 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 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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