Gene |
Chromosome |
Location |
Syndrome |
Category |
G6PC | 17 | q21.31 | Glycogen storage disease type I | Hyperlipidemia | |
G6PD | 23 | q28 | Glucose-6-phosphate dehydrogenase deficiency | Tachycardia (>100 beats/minute) | |
GABRA1 | 5 | q34 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
GABRA5 | 15 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5 | Autism spectrum | |
GABRB3 | 15 | q12 | Epilepsy childhood absence 5 (ECA5) | Autism spectrum | |
GABRD | 1 | p36.33 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
GABRD | 1 | p36.33 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
GABRG2 | 5 | q34 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
GABRG2 | 5 | q34 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
GABRG3 | 15 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3 | Autism spectrum | |
GAD1 | 2 | q31 | Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorder | Cerebral palsy | |
GADEVS | 14 | q32.2 | GABRIELE-DE VRIES SYNDROME | Autism spectrum | |
GALE | 1 | p36.11 | Galactosemia (type III) | Galactosemia | |
GALK1 | 17 | q25.1 | Galactosemia (type II) | Galactosemia | |
GALT | 9 | p13.3 | Galactosemia (type I) | Galactosemia | |
GAMT | 19 | p13.3 | Guanidinoacetate methyltransferase deficiency | Autism spectrum | |
GAN | 16 | q23.2 | Giant axonal neuropathy | Ataxia spectrum | |
GATA3 | 10 | p14 | Rheumatoid arthritis | Arthritis | |
GATA4 | 8 | p23.1 | heterotaxy syndrome | Heterotaxy | |
GATM | 15 | q21.1 | Arginine glycine amidinotransferase deficiency | Autism spectrum | |
GBA | 1 | q22 | Parkinson disease - other | Parkinsonism | |
GBE1 | 3 | p12.3 | Glycogen storage disease type IV (GSD IV) | Arthrogryposis spectrum | |
GCGR | 17 | q25.3 | Type 2 Diabetes | Diabetes | |
GCK | 7 | p13 | Permanent neonatal diabetes mellitus | Diabetes | |
GCK | 7 | p13 | Gestational diabetes | Diabetes | |
GCK | 7 | p13 | Congenital hyperinsulinism | Diabetes | |
GCKR | 2 | p23.3 | Type 2 Diabetes | Diabetes | |
GCKR | 2 | p23.3 | Non-alcoholic fatty liver disease | Diabetes | |
GCSH | 16 | q23.2 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
GDF1 | 19 | p13.11 | heterotaxy syndrome | Heterotaxy | |
GDF3 | 12 | p13.31 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
GDF6 | 8 | q22.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
GDNF | 5 | p13.2 | GILLES DE LA TOURETTE SYNDROME | Autism spectrum | |
GEFSP9 | 16 | p11.2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 | Autism spectrum | |
GFAP | 4 | q21.31 | Alexander disease | Ataxia spectrum | |
GGT1 | 11 | q11.23 | gamma-Glutamyltransferase deficiency | Polymorphous light eruption | |
GGT8P | 2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
GHR | 5 | p13.1 | Type 2 Diabetes | Diabetes | |
GIF | 11 | q12.1 | Hereditary intrinsic factor deficiency | Vitamin B12 metabolism spectrum | |
GIGYF1 | 7 | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
GIGYF2 | 2 | q37.1 | Parkinson Disease type 11 | Parkinsonism | |
GJA1 | 6 | q22.31 | Oculodentodigital dysplasia | Microcephaly | |
GJA1 | 6 | q22.31 | heterotaxy syndrome | Heterotaxy | |
GJA3 | 13 | q12.11 | Zonular pulverulent cataract type 3 (CZP3) | Cataracts | |
GJA5 | 1 | q21.1 | 1q21.1 bradycardia | Bradycardia (<60 beats/minute) | |
GJA8 | 1 | q21.1 | Cataract 01 multiple types (CTRCT1) | Cataracts | |
GJB2 | 13 | q12.11 | Keratitis-ichthyosis-deafness syndrome | Photophobia - sensitivity to light | |
GJB6 | 13 | q12.11 | Clouston syndrome | Alopecia | |
GJC2 | 1 | q42.13 | Pelizaeus-Merzbacher-like disease type 01 | Ataxia spectrum | |
GLDC | 9 | p24.1 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
GLE1 | 9 | q34.11 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
GLI2 | 2 | q14.2 | Microcephaly - other | Microcephaly | |
GLIS3 | 9 | p24.2 | Diabetes mellitus neonatal with congenital hypothyroidism | Diabetes | |
GLIS3 | 9 | p24.2 | Congenital hypothyroidism | Hypothyroidism | |
GLO1 | 6 | p21.2 | GLYOXALASE I | Autism spectrum | |
GLOW | 14 | q32.13 | GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMOR | Autism spectrum | |
GLRA1 | 5 | q33.1 | hereditary hyperekplexia | Epilepsy and seizures | |
GLRB | 4 | q32.1 | hereditary hyperekplexia | Epilepsy and seizures | |
GLUD1 | 10 | q23.2 | Congenital hyperinsulinism | Diabetes | |
GLUD2 | 23 | q24 | Parkinson disease susceptability | Parkinsonism |
GLYCTK | 3 | p21.2 | D-GLYCERIC ACIDURIA | Autism spectrum | |
GNAI3 | 1 | p13 | Auriculo-condylar syndrome | Cleft lip / cleft palate | |
GNAS | 20 | q13.32 | McCune-Albright syndrome (overactive thyroid) | Hyperthyroidism | |
GNAS | 20 | q13.3 | McCune-Albright syndrome | Tachycardia (>100 beats/minute) | |
GNAT2 | 1 | p13.3 | Achromatopsia | Photophobia - sensitivity to light | |
GNPAT | 1 | q42.2 | Rhizomelic chondrodysplasia punctata type 2 | Rhizomelic chondrodysplasia punctata | |
GPC1 | 2 | q35-37 | Alzheimer - late onset | Alzheimer Syndrome | |
GPHN | 14 | q22.3 | Molybdenum cofactor deficiency | Microcephaly | |
GPHN | 14 | q23.3 | hereditary hyperekplexia | Epilepsy and seizures | |
GPI | 19 | q13.1 | Glucose phosphate isomerase deficiency | Tachycardia (>100 beats/minute) | |
GPIBD11 | 17 | q12 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | Autism spectrum | |
GPIBD17 | 14 | q24.1 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | Autism spectrum | |
GPR143 | 23 | p22.2 | Ocular albinism type 1 | Photophobia - sensitivity to light | |
GPX1 | 3 | p21.31 | Glutathione peroxidase deficiency | Pervasive Developmental Delay | |
GRIA3 | 23 | q25 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
GRID2 | 4 | q22.1-2 | Spinocerebellar ataxia autosomal recessive type 18 | Ataxia spectrum | |
GRIN1 | 9 | q34.3 | GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1 | Autism spectrum | |
GRIN2A | 16 | p13 | EPILEPSY FOCAL WITH SPEECH DISORDER | Autism spectrum | |
GRIN2B | 12 | p13.1 | Mental retardation autosomal dominant 06 (MRD6) | Autism spectrum | |
GRIP1 | 12 | q14.3 | Fraser syndrome | Cleft lip / cleft palate | |
GRM5 | 11 | q14.2-q14. | GLUTAMATE RECEPTOR METABOTROPIC 5 | Autism spectrum | |
GRPR | 23 | p22.2 | GASTRIN-RELEASING PEPTIDE RECEPTOR | Autism spectrum | |
GSN | 9 | q33 | Lattice corneal dystrophy type II | Cerebral palsy | |
GSR | 8 | p12 | gamma-Glutamyltransferase deficiency | Polymorphous light eruption | |
GSTTP2 | 22 | q11.23 | Autism 18 (AUTS18) | Autism spectrum | |
GTF2I | 7 | q11.23 | 7q11.23 duplication syndrome | Panic phobia anxiety | |
GTF2IRD1 | 7 | q11.23 | Williams syndrome | Panic phobia anxiety | |
GUCY2D | 17 | p13.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |