Gene product table



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


* Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.29)
Ganglioside induced differentiation associated protein 2
GDAP2 (1p12)


* Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.80)
Ganglioside-induced differentiation-associated protein 1
GDAP1 (8q13-q21)


* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.21, 14.56, 14.81)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.21, 14.56, 14.81)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.21, 14.56, 14.81)
* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.21, 14.56, 14.81)
Gap junction protein, beta 1, 32kDa (connexin 32)
GJB1 (Xq13.1)


* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.36, 14.44)
Gap junction protein, beta 3, 31kDa (=connexin 31)
GJB3 (1p34.3)


* Peripheral neuropathy and deafness, autosomal dominant - (14.117)
gap junction protein, gamma 2, 47kDa
GJC2 (1q42.13)


* Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)
GATA zinc finger domain containing 1
GATAD1 (7q21-q22)


* Dilated cardiomyopathy realted to GATAD1 - (10.79)
* Cardiomyopathy, dilated, 2B - CMD2B (10.79)
GDP-mannose pyrophosphorylase B
GMPPB (3p21.31)


* Congenital Myasthenic syndrome related to GMPPB - (1.43, 2.30, 2.42, 11.35)
* Muscle-eye-brain disease - MDDGA14 (1.43, 2.30, 2.42, 11.35)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.43, 2.30, 2.42, 11.35)
Gigaxonin
GAN1 (16q23.2)


* Giant axonal neuropathy-1 - GAN1 (14.119)
GIPC PDZ Domain-containing family, member 1
GIPC1 (19p13.12)


* Oculopharyngodistal myopathy 2 - OPDM2 (5.20)
GLE1 RNA export mediator homolog (yeast)
GLE1 (9q34.11)


* Lethal congenital contracture syndrome 1 - LCCS1 (12.76)
Gliomedin
GLDN (15q21.2)


* Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.86)
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 (15.45)
Glutamate receptor metabotropic, 1
GRM1 (6q24.3)


* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.66)
* Spinocerebellar ataxia 44 - SCA44 (13.40, 13.66)
Glutamate receptor, ionotropic, delta 2
GRID2 (4q22.1)


* Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.71)
Glutamine-fructose-6-phosphate transaminase 1
GFPT1 (2p12-p15)


* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.18)
Glycerol-3-phosphate dehydrogenase 1-like
GPD1L (3p22.3)


* brugada syndrome 2 - (10.164)
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, 9.12)
* Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
Glycyl-tRNA synthetase
GARS (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)
Golgi SNAP receptor complex member 2
GOSR2 (17q21.32)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (2.44)
Golgi-specific brefeldin-A resistance factor 1
GBF1 (10q24.32)


* Distal hereditary motor neuropathies - (12.39)
Golgin A2
GOLGA2 (9q34.113)


* GOLGA2-related congenital muscle dystrophy with brain involvement - (2.49)
Guanine nucleotidebinding protein, beta-4
GNB4 (3q28-q29)


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