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: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
0.020 GeneticVariation disease BEFREE The proportion of genetic mutation of SD in chILD is 13.2% in China, of which SP-C deficiency is predominant. 31081264 2019
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
0.020 GeneticVariation disease BEFREE Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. 14656744 2004