PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Spinocerebellar ataxia 14 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918514
rs121918514
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE We therefore confirmed that the Gly118Asp mutation is a SCA14 founder mutation in the Dutch ADCA population. 15841389 2005
dbSNP: rs121918514
rs121918514
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		A 0.710 CausalMutation CLINVAR