DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: Pulmonary Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.120 Biomarker disease BEFREE Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. 29742735 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.120 Biomarker disease BEFREE Further investigation into the mechanism by which dyskerin contributes to the development of lung fibrosis is warranted. 24504062 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.120 Biomarker disease HPO