Names of Genes

Gene Chromosome Location Syndrome Category
G6PC17q21.31Glycogen storage disease type IHyperlipidemia
G6PD23q28Glucose-6-phosphate dehydrogenase deficiencyTachycardia (>100 beats/minute)
GABRA15q34Juvenile myoclonic epilepsyEpilepsy and seizures
GABRA515q12GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5Autism spectrum
GABRB315q12Epilepsy childhood absence 5 (ECA5)Autism spectrum
GABRD1p36.33Genetic epilepsy with febrile seizures plusAtaxia spectrum
GABRD1p36.33Genetic epilepsy with febrile seizures plusEpilepsy and seizures
GABRG25q34Genetic epilepsy with febrile seizures plusAtaxia spectrum
GABRG25q34Genetic epilepsy with febrile seizures plusEpilepsy and seizures
GABRG315q12GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3Autism spectrum
GAD12q31Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorderCerebral palsy
GADEVS14q32.2GABRIELE-DE VRIES SYNDROMEAutism spectrum
GALE1p36.11Galactosemia (type III)Galactosemia
GALK117q25.1Galactosemia (type II)Galactosemia
GALT9p13.3Galactosemia (type I)Galactosemia
GAMT19p13.3Guanidinoacetate methyltransferase deficiencyAutism spectrum
GAN16q23.2Giant axonal neuropathyAtaxia spectrum
GATA310p14Rheumatoid arthritisArthritis
GATA48p23.1heterotaxy syndromeHeterotaxy
GATM15q21.1Arginine glycine amidinotransferase deficiencyAutism spectrum
GBA1q22Parkinson disease - otherParkinsonism
GBE13p12.3Glycogen storage disease type IV (GSD IV)Arthrogryposis spectrum
GCGR17q25.3Type 2 DiabetesDiabetes
GCK7p13Permanent neonatal diabetes mellitusDiabetes
GCK7p13Gestational diabetesDiabetes
GCK7p13Congenital hyperinsulinismDiabetes
GCKR2p23.3Type 2 DiabetesDiabetes
GCKR2p23.3Non-alcoholic fatty liver diseaseDiabetes
GCSH16q23.2GLYCINE ENCEPHALOPATHYAutism spectrum
GDF119p13.11heterotaxy syndromeHeterotaxy
GDF312p13.31Microphthalmia isolated with coloboma 3 (MCOPCB3)Microphthalmia
GDF68q22.1Microphthalmia isolated with coloboma 3 (MCOPCB3)Microphthalmia
GDNF5p13.2GILLES DE LA TOURETTE SYNDROMEAutism spectrum
GEFSP916p11.2GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9Autism spectrum
GFAP4q21.31Alexander diseaseAtaxia spectrum
GGT111q11.23gamma-Glutamyltransferase deficiencyPolymorphous light eruption
GGT8P2p11.1-2Autism 18 (AUTS18)Autism spectrum
GHR5p13.1Type 2 DiabetesDiabetes
GIF11q12.1Hereditary intrinsic factor deficiencyVitamin B12 metabolism spectrum
GIGYF17q22.1Autism 18 (AUTS18)Autism spectrum
GIGYF22q37.1Parkinson Disease type 11Parkinsonism
GJA16q22.31Oculodentodigital dysplasiaMicrocephaly
GJA16q22.31heterotaxy syndromeHeterotaxy
GJA313q12.11Zonular pulverulent cataract type 3 (CZP3)Cataracts
GJA51q21.11q21.1 bradycardiaBradycardia (<60 beats/minute)
GJA81q21.1Cataract 01 multiple types (CTRCT1)Cataracts
GJB213q12.11Keratitis-ichthyosis-deafness syndromePhotophobia - sensitivity to light
GJB613q12.11Clouston syndromeAlopecia
GJC21q42.13Pelizaeus-Merzbacher-like disease type 01Ataxia spectrum
GLDC9p24.1GLYCINE ENCEPHALOPATHYAutism spectrum
GLE19q34.11Lethal arthrogryposis with anterior horn cell diseaseArthrogryposis spectrum
GLI22q14.2Microcephaly - otherMicrocephaly
GLIS39p24.2Diabetes mellitus neonatal with congenital hypothyroidismDiabetes
GLIS39p24.2Congenital hypothyroidismHypothyroidism
GLO16p21.2 GLYOXALASE IAutism spectrum
GLOW14q32.13GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMORAutism spectrum
GLRA15q33.1hereditary hyperekplexiaEpilepsy and seizures
GLRB4q32.1hereditary hyperekplexiaEpilepsy and seizures
GLUD110q23.2Congenital hyperinsulinismDiabetes
GLUD223q24Parkinson disease susceptabilityParkinsonism
GLYCTK3p21.2D-GLYCERIC ACIDURIAAutism spectrum
GNAI31p13Auriculo-condylar syndromeCleft lip / cleft palate
GNAS20q13.32McCune-Albright syndrome (overactive thyroid)Hyperthyroidism
GNAS20q13.3McCune-Albright syndromeTachycardia (>100 beats/minute)
GNAT21p13.3AchromatopsiaPhotophobia - sensitivity to light
GNPAT1q42.2Rhizomelic chondrodysplasia punctata type 2Rhizomelic chondrodysplasia punctata
GPC12q35-37Alzheimer - late onsetAlzheimer Syndrome
GPHN14q22.3Molybdenum cofactor deficiencyMicrocephaly
GPHN14q23.3hereditary hyperekplexiaEpilepsy and seizures
GPI19q13.1Glucose phosphate isomerase deficiencyTachycardia (>100 beats/minute)
GPIBD1117q12GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11Autism spectrum
GPIBD1714q24.1GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17Autism spectrum
GPR14323p22.2Ocular albinism type 1Photophobia - sensitivity to light
GPX13p21.31Glutathione peroxidase deficiencyPervasive Developmental Delay
GRIA323q25Mental retardation X-linked 94 (MRX94)Autism spectrum
GRID24q22.1-2Spinocerebellar ataxia autosomal recessive type 18Ataxia spectrum
GRIN19q34.3GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1Autism spectrum
GRIN2A16p13EPILEPSY FOCAL WITH SPEECH DISORDERAutism spectrum
GRIN2B12p13.1Mental retardation autosomal dominant 06 (MRD6)Autism spectrum
GRIP112q14.3Fraser syndromeCleft lip / cleft palate
GRM511q14.2-q14.GLUTAMATE RECEPTOR METABOTROPIC 5Autism spectrum
GRPR23p22.2GASTRIN-RELEASING PEPTIDE RECEPTORAutism spectrum
GSN9q33Lattice corneal dystrophy type IICerebral palsy
GSR8p12gamma-Glutamyltransferase deficiencyPolymorphous light eruption
GSTTP222q11.23Autism 18 (AUTS18)Autism spectrum
GTF2I7q11.237q11.23 duplication syndromePanic phobia anxiety
GTF2IRD17q11.23Williams syndromePanic phobia anxiety
GUCY2D17p13.1Leber congenital amaurosisPhotophobia - sensitivity to light


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