PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 GeneticVariation phenotype BEFREE However, whether ataxia telangiectasis mutated (ATM) which is reported to be linked with PTEN-induced putative kinase 1 (PINK1)/Parkin pathway (a well-characterized mitophagic pathway) participates in the regulation of Pb-induced mitophagy and its exact role remains enigmatic. 29660402 2018