rs121917836, SFTPC

N. diseases: 4
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 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 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 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 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
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
0.010 GeneticVariation BEFREE We describe a full-term infant with respiratory insufficiency associated with a spontaneous heterozygous mutation resulting in a substitution of lysine for glutamic acid at position 66 (= E66K) of the proximal hSP-C COOH flanking propeptide. 15557112 2005
Nonspecific interstitial pneumonia
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
0.010 GeneticVariation BEFREE Lung histology and biochemical studies of the index patient (hSP-C(E66K)) revealed nonspecific interstitial pneumonia, increased alveolar total phospholipid lacking phosphatidylglycerol, and increased surfactant protein A. Localization of proSP-C from lung sections prepared from this patient using immunofluorescence and immunogold electron microscopy revealed abnormal proSP-C staining in endosomal-like vesicles of type II cells distinct from SP-B. 15557112 2005
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE The E66K substitution is representative of a new class of SP-C mutation associated with interstitial lung disease that is diverted from the normal biosynthetic pathway. 15557112 2005