Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 CausalMutation disease CLINVAR New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 Biomarker disease GENOMICS_ENGLAND New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
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
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 CausalMutation disease CLINVAR Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 GeneticVariation disease UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 GeneticVariation disease UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 CausalMutation disease CLINVAR Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 GeneticVariation disease UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
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
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the surfactant protein C gene associated with familial interstitial lung disease. 11207353 2001
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.700 Biomarker disease CTD_human