Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.040 GeneticVariation BEFREE I73T was a common SFTPC mutation in Chinese ILD children associated with surfactant protein C mutations. 31462320 2019
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.040 GeneticVariation BEFREE We conclude that hSP-C(I73T) induces an acquired block in macroautophagy-dependent proteostasis and mitophagy, which could contribute to the increased vulnerability of the lung epithelia to second-hit injury as seen in ILD. 25344067 2015
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.040 GeneticVariation BEFREE The I73T mutation was found on 7 of 232 SP-C alleles from 7 unrelated children with ILD but was not found on 332 control SP-C alleles ( P < .01, Fisher exact test). 15756222 2005
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.040 GeneticVariation BEFREE The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease. 15039969 2004