Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
GAAAcid alpha-glucosidase preproprotein     | 17q25.2-q25.3 | * Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.61, 9.1, 10.98)
* Glycogen storage disease II - GSDII (1.61, 9.1, 10.98)
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| 16q23.2 | * Giant axonal neuropathy-1 - GAN1 (14.126)
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GARS1Glycyl-tRNA synthetase     | 7p15 | * Neuropathy, distal hereditary motor type V - HMN V (12.23, 14.51)
* Spinal muscular atrophy, distal, type V - DSMAV (12.23, 14.51)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.23, 14.51)
|
GATAD1GATA zinc finger domain containing 1     | 7q21-q22 | * Cardiomyopathy, dilated, 2B - CMD2B (10.81) * Dilated cardiomyopathy realted to GATAD1 - (10.81)
|
GBA2Glucosidase, beta (bile acid) 2     | 9p13.3 | * Spastic paraplegia 46, autosomal recessive - SPG46 (15.45)
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GBE1Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)     | 3p12 | * Glycogen branching enzyme deficiency - GSD IV (9.3)
|
GBF1Golgi-specific brefeldin-A resistance factor 1     | 10q24.32 | * Distal hereditary motor neuropathies - (12.41, 14.14)
* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.41, 14.14)
|
GDAP1Ganglioside-induced differentiation-associated protein 1     | 8q13-q21 | * Charcot-Marie-Tooth disease, type 4A - CMT4A (14.22, 14.57, 14.84)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.22, 14.57, 14.84)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.22, 14.57, 14.84)
* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.22, 14.57, 14.84)
|
GDAP2Ganglioside induced differentiation associated protein 2     | 1p12 | * Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.83)
|
GFERGrowth Factor ERV1-Like     | 16p13.3 | * Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.85)
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GFPT1Glutamine-fructose-6-phosphate transaminase 1     | 2p12-p15 | * Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)
* Myasthenia, congenital, 12, with tubular aggregates - CMS12 (11.20)
|
GGPS1Geranylgeranyl Diphosphate Synthase 1     | 1q42.3 | * Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.16)
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GIPC1GIPC PDZ Domain-containing family, member 1     | 19p13.12 | * Oculopharyngodistal myopathy 2 - OPDM2 (5.22)
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| 1q21.1 | * atrial fibrillation, familial, 1 - ATFB1 (10.164, 10.172)
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GJB1Gap junction protein, beta 1, 32kDa (connexin 32)     | Xq13.1 | * Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.37, 14.45)
|
GJB3Gap junction protein, beta 3, 31kDa (=connexin 31)     | 1p34.3 | * Peripheral neuropathy and deafness, autosomal dominant - (14.124)
|
GJC2gap junction protein, gamma 2, 47kDa     | 1q42.13 | * Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)
|
| 15q21.2 | * Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.91)
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GLE1GLE1 RNA export mediator homolog (yeast)     | 9q34.11 | * Lethal congenital contracture syndrome 1 - LCCS1 (12.81)
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GMPPBGDP-mannose pyrophosphorylase B     | 3p21.31 | * Muscle-eye-brain disease - MDDGA14 (1.49, 2.30, 2.42, 11.37)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.49, 2.30, 2.42, 11.37) * Congenital Myasthenic syndrome related to GMPPB - (1.49, 2.30, 2.42, 11.37)
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GNB4Guanine nucleotidebinding protein, beta-4     | 3q28-q29 | * Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.19)
|
GNEUDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase     | 9p13.3 | * Nonaka myopathy - NM (4.5)
* Inclusion body myopathy, autosomal recessive - IBM2 (4.5)
|
| 9q34.113 | * GOLGA2-related congenital muscle dystrophy with brain involvement - (2.49)
|
GOSR2Golgi SNAP receptor complex member 2     | 17q21.32 | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (1.14, 2.44) * Muscular dystrophy - (1.14, 2.44)
* Muscular dystrophy related to GOSR2 - GOSR2 (1.14, 2.44)
|
GPD1LGlycerol-3-phosphate dehydrogenase 1-like     | 3p22.3 | * brugada syndrome 2 - (10.174)
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GRID2Glutamate receptor, ionotropic, delta 2     | 4q22.1 | * Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.74)
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GRM1Glutamate receptor metabotropic, 1     | 6q24.3 | * Spinocerebellar ataxia 44 - SCA44 (13.40, 13.69)
* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.69)
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| 3q24 | * Glycogen storage disease XV - GSD15 (9.8, 9.12)
* Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
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GYS1Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)      | 19q13.3 | * glycogen storage disease type 0 - GSD0b (9.9)
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