PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
Disease: Isolated polycystic liver disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease 		0.020 GeneticVariation disease BEFREE Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63. 24506938 2014
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease 		0.020 GeneticVariation disease BEFREE We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients. 20408955 2011