rs121917834, SFTPC

N. diseases: 10
Disease: Pulmonary Alveolar Proteinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pulmonary Alveolar Proteinosis
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
0.010 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