PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: Aortic Valve Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.010 GeneticVariation disease BEFREE Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three genes, PARK2, PARK7 and PINK1, have been found to carry mutations leading to AR disease. 22427796 2012