SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
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: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		C 0.800 CausalMutation CLINVAR New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
dbSNP: rs121918559
rs121918559
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112 2005
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		C 0.800 CausalMutation CLINVAR Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		C 0.800 CausalMutation CLINVAR Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
dbSNP: rs121918559
rs121918559
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
dbSNP: rs121918559
rs121918559
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
dbSNP: rs121918559
rs121918559
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
dbSNP: rs121917834
rs121917834
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 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
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 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
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 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
dbSNP: rs121918559
rs121918559
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.800 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
dbSNP: rs121917835
rs121917835
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121917836
rs121917836
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C1970470
Disease:
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		A 0.800 CausalMutation CLINVAR