rs121917835, BMP1;SFTPC

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
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 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 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 CausalMutation CLINVAR