SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Chronic lung disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding SP-C (SFTPC) have recently been linked to chronic lung disease in children and adults. 14525980 2003
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.030 GeneticVariation disease BEFREE Dominant mutations of SP-C associate with chronic lung disease, with variable manifestations. 12667827 2003
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.030 Biomarker disease BEFREE In pulse/chase labeling studies with cultured deficient tissue, no immunoprecipitable SP-B was observed and an approximately 6-kD form of SP-C accumulated that was only transiently present in CLD tissue. 10696076 2000