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: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.800 GeneticVariation UNIPROT Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918512
rs121918512
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		C 0.800 CausalMutation CLINVAR