rs34957318, SFTPC;BMP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
0.700 GeneticVariation UNIPROT Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 11991887 2002
Bronchopulmonary Dysplasia
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
0.010 GeneticVariation BEFREE We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. 23775869 2014