Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

GAA
Acid alpha-glucosidase preproprotein



17q25.2-q25.3
* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.54, 9.1, 10.102)
* Glycogen storage disease II - GSDII (1.54, 9.1, 10.102)

GAN1
Gigaxonin



16q23.2
* Giant axonal neuropathy-1 - GAN1 (14.129)

GARS1
Glycyl-tRNA synthetase



7p15
* Neuropathy, distal hereditary motor type V - HMN V (12.27, 14.51)
* Spinal muscular atrophy, distal, type V - DSMAV (12.27, 14.51)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.27, 14.51)

GATAD1
GATA zinc finger domain containing 1



7q21-q22
* Cardiomyopathy, dilated, 2B - CMD2B (10.82)
* Dilated cardiomyopathy realted to GATAD1 - (10.82)

GBA2
Glucosidase, beta (bile acid) 2



9p13.3
* Spastic paraplegia 46, autosomal recessive - SPG46 (15.46)

GBE1
Glucan (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)

GBF1
Golgi-specific brefeldin-A resistance factor 1



10q24.32
* Distal hereditary motor neuropathies - (12.47, 14.14)
* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.47, 14.14)

GDAP1
Ganglioside-induced differentiation-associated protein 1



8q13-q21
* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.22, 14.57, 14.86)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.22, 14.57, 14.86)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.22, 14.57, 14.86)
* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.22, 14.57, 14.86)

GDAP2
Ganglioside induced differentiation associated protein 2



1p12
* Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.87)

GFER
Growth Factor ERV1-Like



16p13.3
* Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.33)

GFPT1
Glutamine-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)

GGPS1
Geranylgeranyl Diphosphate Synthase 1



1q42.3
* Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.15)

GIPC1
GIPC PDZ Domain-containing family, member 1



19p13.12
* Oculopharyngodistal myopathy 2 - OPDM2 (5.24)

GJA5
Connexin 40



1q21.1
* atrial fibrillation, familial, 1 - ATFB1 (10.168, 10.176)

GJB1
Gap junction protein, beta 1, 32kDa (connexin 32)



Xq13.1
* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.37, 14.45)

GJB3
Gap junction protein, beta 3, 31kDa (=connexin 31)



1p34.3
* Peripheral neuropathy and deafness, autosomal dominant - (14.127)

GJC2
gap junction protein, gamma 2, 47kDa



1q42.13
* Spastic paraplegia 44, autosomal recessive - SPG44 (15.44)

GLDN
Gliomedin



15q21.2
* Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.100)

GLE1
GLE1 RNA export mediator homolog (yeast)



9q34.11
* Lethal congenital contracture syndrome 1 - LCCS1 (12.90)

GMPPB
GDP-mannose pyrophosphorylase B



3p21.31
* Muscle-eye-brain disease - MDDGA14 (1.52, 2.32, 2.39, 11.37)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.52, 2.32, 2.39, 11.37)
* Congenital Myasthenic syndrome related to GMPPB - (1.52, 2.32, 2.39, 11.37)

GNB4
Guanine nucleotidebinding protein, beta-4



3q28-q29
* Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.19)

GNE
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



9p13.3
* Nonaka myopathy - NM (4.5)
* Inclusion body myopathy, autosomal recessive - IBM2 (4.5)

GOLGA2
Golgin A2



9q34.113
* Developmental delay with hypotonia, myopathy and brain abnormalities - DEDHMB (2.47)

GOSR2
Golgi SNAP receptor complex member 2



17q21.32
* Muscular dystrophy related to GOSR2 - GOSR2 (2.43)

GPD1L
Glycerol-3-phosphate dehydrogenase 1-like



3p22.3
* brugada syndrome 2 - BRGDA2 (10.178)

GRID2
Glutamate receptor, ionotropic, delta 2



4q22.1
* Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.78)

GRM1
Glutamate receptor metabotropic, 1



6q24.3
* Spinocerebellar ataxia 44 - SCA44 (13.40, 13.73)
* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.73)

GYG1
Glycogenin 1



3q24
* Glycogen storage disease XV - GSD15 (9.7, 9.11)
* Polyglucosan Body Myopathy 2 - PGBM2 (9.7, 9.11)

GYS1
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



19q13.3
* glycogen storage disease type 0 - GSD0b (9.8)