DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. 24504062 2014