SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1998122
Disease: Chronic respiratory insufficiency
Chronic respiratory insufficiency
0.010 Biomarker disease BEFREE Inherited disorders of surfactant metabolism present as acute, severe respiratory dysfunction in the neonatal period (SFTPB, ABCA3, NKX2.1) or as chronic respiratory insufficiency in later infancy and childhood which is of variable onset, severity, and course (SFTPC, ABCA3, NKX2.1). 21034611 2010