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 (13.87)
Ganglioside-induced differentiation-associated protein 1
GDAP1 (8q13-q21)


* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.23, 14.28, 14.64)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.23, 14.28, 14.64)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.23, 14.28, 14.64)
* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.23, 14.28, 14.64)
Gap junction protein, beta 1, 32kDa (connexin 32)
GJB1 (Xq13.1)


* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.43, 14.52)
Gap junction protein, beta 3, 31kDa (=connexin 31)
GJB3 (1p34.3)


* Peripheral neuropathy and deafness, autosomal dominant - (14.130)
gap junction protein, gamma 2, 47kDa
GJC2 (1q42.13)


* Spastic paraplegia 44, autosomal recessive - SPG44 (15.47)
GATA zinc finger domain containing 1
GATAD1 (7q21-q22)


* Dilated cardiomyopathy realted to GATAD1 - (10.83)
* Cardiomyopathy, dilated, 2B - CMD2B (10.83)
GDP-mannose pyrophosphorylase B
GMPPB (3p21.31)


* Congenital Myasthenic syndrome related to GMPPB - (1.55, 2.31, 2.38, 11.37)
* Muscle-eye-brain disease - MDDGA14 (1.55, 2.31, 2.38, 11.37)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.55, 2.31, 2.38, 11.37)
Geranylgeranyl Diphosphate Synthase 1
GGPS1 (1q42.3)


* Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.15)
Gigaxonin
GAN1 (16q23.2)


* Giant axonal neuropathy-1 - GAN1 (14.132)
GIPC PDZ Domain-containing family, member 1
GIPC1 (19p13.12)


* Oculopharyngodistal myopathy 2 - OPDM2 (5.23)
GLE1 RNA export mediator homolog (yeast)
GLE1 (9q34.11)


* Lethal congenital contracture syndrome 1 - LCCS1 (12.87)
Gliomedin
GLDN (15q21.2)


* Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.97)
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 (15.49)
Glutamate receptor metabotropic, 1
GRM1 (6q24.3)


* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.41, 13.73)
* Spinocerebellar ataxia 44 - SCA44 (13.41, 13.73)
Glutamate receptor, ionotropic, delta 2
GRID2 (4q22.1)


* Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.78)
Glutamine-fructose-6-phosphate transaminase 1
GFPT1 (2p12-p15)


* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)
* Myasthenia, congenital, 12, with tubular aggregates - CMS12 (11.20)
Glycerol-3-phosphate dehydrogenase 1-like
GPD1L (3p22.3)


* brugada syndrome 2 - BRGDA2 (10.178)
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
GARS1 (7p15)


* Neuropathy, distal hereditary motor type V - HMN V (12.28, 14.58)
* Spinal muscular atrophy, distal, type V - DSMAV (12.28, 14.58)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.28, 14.58)
Golgi SNAP receptor complex member 2
GOSR2 (17q21.32)


* Muscular dystrophy related to GOSR2 - GOSR2 (2.52)
Golgi-specific brefeldin-A resistance factor 1
GBF1 (10q24.32)


* Distal hereditary motor neuropathies - (12.46, 14.15)
* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.46, 14.15)
Golgin A2
GOLGA2 (9q34.113)


* Developmental delay with hypotonia, myopathy and brain abnormalities - DEDHMB (2.46)
Growth Factor ERV1-Like
GFER (16p13.3)


* Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.85)
Guanine nucleotidebinding protein, beta-4
GNB4 (3q28-q29)


* Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.20)
Guided entry of tail-anchored proteins factor 3, ATPase
GET3 (19p13.13)

* Dilated cardiomyopathy, 2H - CMD2H (10.89)