SFTPC, surfactant protein C, 6440

N. diseases: 89; N. variants: 11
Disease: Respiratory Failure ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1145670
Disease:
Respiratory Failure 		0.020 GeneticVariation BEFREE We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome. 26925580 2016
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1145670
Disease:
Respiratory Failure 		0.020 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