rs121917834, SFTPC

N. diseases: 10
Disease: Lung diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.030 GeneticVariation BEFREE Our results confirm that SFTPC mutations are a frequent cause of diffuse lung disease, and that I73T is the most frequent SFTPC mutation associated with diffuse lung disease. 19443464 2009
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.030 GeneticVariation BEFREE To test the hypothesis that ABCA3 mutations modify the severity of lung disease in individuals with SFTPC mutations, we sequenced ABCA3 from four symptomatic infants with the same SFTPC mutation, a substitution of isoleucine by threonine in codon 73 (I73T). 17597647 2007
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.030 GeneticVariation BEFREE These findings support the hypothesis that the I73T mutation predisposes to or causes lung disease. 15756222 2005