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 |
The Connexin-deafness homepage |
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
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 |
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 |
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 |
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 |
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 |
The Connexin-deafness homepage |
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 |
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 |
GK |
glycerol kinase |
300474 |
Leiden Muscular Dystrophy pages |
Johan T. den Dunnen Leiden Univ. Med Centre |
GLA |
galactosidase, alpha |
300644 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
GLA |
galactosidase, alpha |
300644 |
GLA database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
GPM6B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
GPM6B |
glycoprotein M6B |
300051 |
Glycoprotein M6B (GPM6B) database |
Belinda Giardine and Joseph Borg |
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 |
Albinism Database |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota |
GPR143 |
G protein-coupled receptor 143 |
300500 |
Mutations of the OA1 Gene |
Retina International |
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 |