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 (1.59, 9.1, 10.90)
* Glycogen storage disease II - GSDII (1.59, 9.1, 10.90)

GAN1
Gigaxonin



16q23.2
* Giant axonal neuropathy-1 - GAN1 (14.123)

GARS
Glycyl-tRNA synthetase



7p15
* Neuropathy, distal hereditary motor type V - HMN V (12.21, 14.50)
* Spinal muscular atrophy, distal, type V - DSMAV (12.21, 14.50)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.21, 14.50)

GATAD1
GATA zinc finger domain containing 1



7q21-q22
* Cardiomyopathy, dilated, 2B - CMD2B (10.79)
* Dilated cardiomyopathy realted to GATAD1 - (10.79)

GBA2
Glucosidase, beta (bile acid) 2



9p13.3
* Spastic paraplegia 46, autosomal recessive - SPG46 (15.45)

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 - (12.39, 14.13)
* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.39, 14.13)

GDAP1
Ganglioside-induced differentiation-associated protein 1



8q13-q21
* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.21, 14.56, 14.82)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.21, 14.56, 14.82)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.21, 14.56, 14.82)
* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.21, 14.56, 14.82)

GDAP2
Ganglioside induced differentiation associated protein 2



1p12
* Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.82)

GFER
Growth Factor ERV1-Like



16p13.3
* Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.84)

GFPT1
Glutamine-fructose-6-phosphate transaminase 1



2p12-p15
* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)

GGPS1
Geranylgeranyl Diphosphate Synthase 1



1q42.3
* Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.17)

GIPC1
GIPC PDZ Domain-containing family, member 1



19p13.12
* Oculopharyngodistal myopathy 2 - OPDM2 (5.20)

GJA5
Connexin 40



1q21.1
* atrial fibrillation, familial, 1 - ATFB1 (10.155, 10.156)

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



Xq13.1
* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.36, 14.44)

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



1p34.3
* Peripheral neuropathy and deafness, autosomal dominant - (14.121)

GJC2
gap junction protein, gamma 2, 47kDa



1q42.13
* Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)

GLDN
Gliomedin



15q21.2
* Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.88)

GLE1
GLE1 RNA export mediator homolog (yeast)



9q34.11
* Lethal congenital contracture syndrome 1 - LCCS1 (12.78)

GMPPB
GDP-mannose pyrophosphorylase B



3p21.31
* Muscle-eye-brain disease - MDDGA14 (1.48, 2.30, 2.42, 11.37)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.48, 2.30, 2.42, 11.37)
* Congenital Myasthenic syndrome related to GMPPB - (1.48, 2.30, 2.42, 11.37)

GNB4
Guanine nucleotidebinding protein, beta-4



3q28-q29
* Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.18)

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



9p13.3
* Nonaka myopathy - NM (4.3)
* Inclusion body myopathy, autosomal recessive - IBM2 (4.3)

GOLGA2
Golgin A2



9q34.113
* GOLGA2-related congenital muscle dystrophy with brain involvement - (2.49)

GOSR2
Golgi SNAP receptor complex member 2



17q21.32
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (1.15, 2.44)
* Muscular dystrophy - (1.15, 2.44)

GPD1L
Glycerol-3-phosphate dehydrogenase 1-like



3p22.3
* brugada syndrome 2 - (10.165)

GRID2
Glutamate receptor, ionotropic, delta 2



4q22.1
* Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.73)

GRM1
Glutamate receptor metabotropic, 1



6q24.3
* Spinocerebellar ataxia 44 - SCA44 (13.40, 13.68)
* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.68)

GYG1
Glycogenin 1



3q24
* Glycogen storage disease XV - GSD15 (9.8, 9.12)
* Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)

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



19q13.3
* glycogen storage disease type 0 - GSD0b (9.9)