rs121917835, BMP1;SFTPC

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 CausalMutation CLINVAR
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 GeneticVariation UNIPROT Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 11991887 2002
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
0.010 GeneticVariation BEFREE We evaluated biopsies from 23 IPF patients (including 3 family members with L188Q SFTPC mutations, 10 individuals with familial interstitial pneumonia without SFTPC mutations, and 10 individuals with sporadic IPF) and sections from 10 control lungs. 18390830 2008