rs121917836, SFTPC

N. diseases: 4
Disease: Nonspecific interstitial pneumonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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