Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Gamma sarcoglycan
SGCG (13q12)


* Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.23)
Ganglioside-induced differentiation-associated protein 1
GDAP1 (8q13-q21)


* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.17, 14.51)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.17, 14.51)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.17, 14.51)
Gap junction protein, beta 1, 32kDa (connexin 32)
GJB1 (Xq13.1)


* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.30, 14.38)
Gap junction protein, beta 3, 31kDa (=connexin 31)
GJB3 (1p34.3)


* Peripheral neuropathy and deafness, autosomal dominant - (14.94)
gap junction protein, gamma 2, 47kDa
GJC2 (1q42.13)


* Spastic paraplegia 44, autosomal recessive - SPG44 (15.39)
GATA zinc finger domain containing 1
GATAD1 (7q21-q22)


* Dilated cardiomyopathy realted to GATAD1 - (10.70)
* Cardiomyopathy, dilated, 2B - CMD2B (10.70)
GDP-mannose pyrophosphorylase B
GMPPB (3p21.31)


* Congenital Myasthenic syndrome related to GMPPB - (1.40, 2.31, 2.38, 11.32)
* Muscle-eye-brain disease - MDDGA14 (1.40, 2.31, 2.38, 11.32)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.40, 2.31, 2.38, 11.32)
Gigaxonin
GAN (16q24.1)


* Giant axonal neuropathy-1 - GAN1 (14.96)
GLE1 RNA export mediator homolog (yeast)
GLE1 (9q34.11)


* Lethal congenital contracture syndrome 1 - LCCS1 (12.66)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen dis
GBE1 (3p12)


* Glycogen branching enzyme deficiency - GSD IV (9.3)
glucosidase, beta (bile acid) 2
GBA2 (9p13.3)


* Spastic paraplegia 46, autosomal recessive - SPG46 (15.41)
Glutamine-fructose-6-phosphate transaminase 1
GFPT1 (2p12-p15)


* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.17)
Glycerol-3-phosphate dehydrogenase 1-like
GPD1L (3p22.3)


* brugada syndrome 2 - (10.135)
Glycogen phosphorylase
PYGM (11q12-q13.2)


* McArdle disease - PYGM (9.4)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
GYS1 (19q13.3)


* glycogen storage disease type 0 - GSD0b (9.9)
Glycogenin 1
GYG1 (3q24)


* Glycogen storage disease XV - GSD15 (9.8)
Glycyl-tRNA synthetase
GARS (7p15)


* Neuropathy, distal hereditary motor type V - HMN V (12.14, 14.44)
* Spinal muscular atrophy, distal, type V - DSMAV (12.14, 14.44)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.14, 14.44)
golgin A2
GOLGA2 (9q34.113)


* GOLGA2-related congenital muscle dystrophy with brain involvement - (2.46)
Guanine nucleotidebinding protein, beta-4
GNB4 (3q28-q29)


* Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.16)