SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 CausalMutation disease CLINVAR Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. 26199800 2015
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 GermlineCausalMutation disease ORPHANET Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population. 23330012 2013
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 CausalMutation disease CLINVAR Genetic testing in children with surfactant dysfunction. 23625987 2013
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 CausalMutation disease CLINVAR Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B. 21965505 2011
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184 2004
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. 10712351 2000
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 GeneticVariation disease UNIPROT Partial deficiency of surfactant protein B in an infant with chronic lung disease. 7491219 1995
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 CausalMutation disease CLINVAR A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. 8163685 1994
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		0.700 Biomarker disease CTD_human