SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Esophageal carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.130 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.130 Biomarker disease BEFREE Alternatively, because simultaneous disruption of both the PTEN and TGF-β/SMAD4 pathways is associated with development of esophageal cancer in a mouse model and because SMAD4 mutations cause gastrointestinal hamartomas in juvenile polyposis syndrome, the SMAD7 mutation may represent an additional modifier of these individuals' PTEN-mutant phenotype. 25554686 2015
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.130 GeneticVariation disease BEFREE Interestingly, the mutant TGF-beta RII E526Q can completely inhibit TGF-beta-induction of nuclear translocation of Smad4 protein in oesophageal carcinoma cells. 10789724 2000
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.130 GeneticVariation disease BEFREE Infrequent DPC4 gene mutation in esophageal cancer, gastric cancer and ulcerative colitis-associated neoplasms. 8957088 1996