SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 CausalMutation disease CLINVAR New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		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
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 CausalMutation disease CLINVAR Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 GeneticVariation disease UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 CausalMutation disease CLINVAR Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602 2004
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 GeneticVariation disease UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558 2004
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		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
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the surfactant protein C gene associated with familial interstitial lung disease. 11207353 2001
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation). 30955586 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE Transduction of pulmonary fibrosis-associated mutant surfactant protein C (SFPTC<sup>Δexon4</sup>) into AEC2 revealed characteristic transcriptional traits similar to those of patients with idiopathic pulmonary fibrosis. 31178143 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE The missense isoleucine to threonine substitution at position 73 (I73T) in the alveolar type 2 cell-restricted surfactant protein-C (SP-C) gene (<i>SFTPC</i>) has been linked to clinical IPF. 30910861 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 AlteredExpression disease BEFREE These data provide proof of principle that mutant SP-C expression in vivo causes spontaneous lung fibrosis, strengthening the role of AT2 cell dysfunction as a key upstream driver of IPF pathogenesis. 29920187 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE ER stress was first implicated in the pathogenesis of IPF >15 years ago with the discovery of disease-causing mutations in surfactant protein C, which result in a misfolded gene product in type II alveolar epithelial cells (AECs). 29567124 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 AlteredExpression disease BEFREE Likewise, airway cells expressing SP-C and alveolar cells expressing KRT5 were observed in human idiopathic pulmonary fibrosis. 27967234 2017
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 Biomarker disease BEFREE Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. 27630174 2016
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE Initial observations linking ER stress and IPF were made in cases of familial interstitial pneumonia (FIP), the familial form of IPF, in a family with a mutation in surfactant protein C (SFTPC). 22287606 2012
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. 20371530 2010
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE Nonclassifiable radiological patterns with cystic changes and histopathological patterns of usual interstitial pneumonia are characteristics of adult SFTPC mutation carriers. 20656946 2010
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE In individuals with familial interstitial pneumonia without SFTPC mutations and patients with sporadic IPF, we also found UPR activation selectively in AECs lining areas of fibrotic remodeling. 18390830 2008
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia. 17005585 2007
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE Surfactant protein C gene variations have not, however, been associated with sporadic cases, i.e. idiopathic pulmonary fibrosis (IPF). 15863652 2005
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.600 GeneticVariation disease BEFREE DNA sequence analyses of the surfactant protein C gene in children with nonspecific interstitial pneumonia and adults with usual interstitial pneumonia exhibit a common heterozygous mutation located in exon 5. 15133475 2004