Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. | 15572558 | 2004 |
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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 |
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0.700 | GeneticVariation | UNIPROT | Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. | 15293602 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. | 15039969 | 2004 |
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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 |