SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Hamman-Rich syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		0.320 GeneticVariation disease BEFREE In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia. 17005585 2007
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		0.320 SusceptibilityMutation disease ORPHANET Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. 15516475 2004
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		0.320 GeneticVariation disease BEFREE Using a candidate gene approach, we found a heterozygous exon 5 + 128 T-->A transversion of SFTPC in a large familial pulmonary fibrosis kindred, including adults with usual interstitial pneumonitis and children with cellular nonspecific interstitial pneumonitis. 11991887 2002