SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.320 Biomarker disease CTD_human Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis. 24952744 2014
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.320 Biomarker disease CTD_human Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. 23525077 2013
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.320 PosttranslationalModification disease BEFREE Methylation of smad4 has not been described previously but we found promoter methylation in 70% of primary AC samples. 16368780 2006
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.320 AlteredExpression disease BEFREE To determine whether DPC4 inactivation is involved in esophageal adenocarcinoma, we have analyzed aneuploid populations from biopsies of 35 patients with Barrett's esophagus who had premalignant epithelium, adenocarcinoma, or both. 8813122 1996