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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 AlteredExpression group LHGDN Homozygous deletion of SMAD4 in breast cancer cell lines and invasive ductal carcinomas. 16627986 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 Biomarker group LHGDN Breast cancer bone metastasis mediated by the Smad tumor suppressor pathway. 16172383 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 Biomarker group BEFREE Smad4-induced apoptosis in ERalpha-positive breast cancer cells may explain the invasive nature of ERalpha-negative breast tumors, thereby providing a potential target for breast cancer intervention. 15886208 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 AlteredExpression group BEFREE Thus, the phenotypes of breast tumors in vivo paralleled that of human breast cancer cell lines in terms of Smad2P and Smad4 expression. 11809701 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.150 GeneticVariation group BEFREE In contrast, a DPC4 splice variant lacking amino acid residues 223-301 and cloned from another TGF-beta and activin resistant breast tumour cell line (MDA-MB-231), does not restore the induction of the 3TPlux reporter by TGF-beta1. 9150356 1997