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: C0476273
Disease: Respiratory distress
Respiratory distress
0.120 GeneticVariation phenotype BEFREE In general, mutations in the SP-B gene SFTPB are associated with fatal respiratory distress in the neonatal period, and mutations in the SP-C gene SFTPC are more commonly associated with interstitial lung disease in older infants, children, and adults. 19220077 2009
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.120 Biomarker phenotype BEFREE However, unlike previous infants with hereditary SP-B deficiency, proSP-C was processed to the active SP-C peptide, suggesting that the defect in SP-B, rather than SP-C, caused the respiratory distress in this infant. 10571948 1999
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.120 GeneticVariation phenotype CLINVAR
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.120 Biomarker phenotype HPO