Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | A mutation in the surfactant protein C gene associated with familial interstitial lung disease. | 11207353 | 2001 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. | 11991887 | 2002 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. | 15293602 | 2004 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. | 15293602 | 2004 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. | 15039969 | 2004 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | New surfactant protein C gene mutations associated with diffuse lung disease. | 19443464 | 2009 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | New surfactant protein C gene mutations associated with diffuse lung disease. | 19443464 | 2009 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. | 15557112 | 2005 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. | 15572558 | 2004 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. | 15572558 | 2004 |