PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.110 GeneticVariation phenotype BEFREE We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. 17149711 2007
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.110 Biomarker phenotype HPO