PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: Familial Idiopathic Pulmonary Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721952
Disease: Familial Idiopathic Pulmonary Fibrosis
Familial Idiopathic Pulmonary Fibrosis 		0.310 Biomarker disease CTD_human Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
CUI: C4721952
Disease: Familial Idiopathic Pulmonary Fibrosis
Familial Idiopathic Pulmonary Fibrosis 		0.310 Biomarker disease BEFREE Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs telomere maintenance is unclear. 26482878 2015