PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: Pulmonary Emphysema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.010 Biomarker disease BEFREE Genetic studies in mouse models have revealed opposing roles for PINK1 and/or mitophagy in the propagation of emphysema and fibrosis, whereas human studies have shown altered regulation of PINK1 in both idiopathic pulmonary fibrosis and COPD. 30759019 2018