SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 GeneticVariation disease BEFREE A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. 20371530 2010
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 GeneticVariation disease BEFREE Nonclassifiable radiological patterns with cystic changes and histopathological patterns of usual interstitial pneumonia are characteristics of adult SFTPC mutation carriers. 20656946 2010
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 Biomarker disease BEFREE The gene for SFTPC was sequenced in 89 patients diagnosed with UIP, 46 patients with NSIP, and 104 normal controls. 15516475 2004
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 GeneticVariation disease BEFREE DNA sequence analyses of the surfactant protein C gene in children with nonspecific interstitial pneumonia and adults with usual interstitial pneumonia exhibit a common heterozygous mutation located in exon 5. 15133475 2004
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 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
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
0.350 Biomarker disease CTD_human