SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Somatic alterations of the DPC4 and Madr2 genes in colorectal cancers and relationship to metastasis. 11172591 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Other members of the SMAD family are excellent candidates for JPS, especially SMAD2 (which, like SMAD4, is mutated somatically in colorectal cancers), SMAD3 (which causes colorectal cancer when "knocked out" in mice), SMAD5, and SMAD1. 10446110 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE These data suggest that the carcinogenetic pathways of protruding and superficial depressed colorectal cancers are different, and that alterations of tumor suppressor gene(s) located on 18q21 other than Smad2, Smad4 and DCC might be associated with most superficial depressed colorectal cancers. 10665650 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE A similar invasive phenotype was obtained in cells expressing another inactivating mutation in Smad2 (Smad2.P445H) found in colorectal cancer. 10438456 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE By the PCR-SSCP method using these primers, we screened genomic DNA sequences of colorectal cancers for mutations of the Smad2 gene. 9635866 1998
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE The SMAD-2 gene may play a role as a candidate tumour-suppressor gene in a small fraction of colorectal cancers. 9820171 1998
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE RT-PCR sequencing analysis of the HL60 Smad5 remaining allele ruled out the functional inactivation of the gene analogous to that occurring in the Smad5 homologs DPC4 and Smad2 in cases of pancreatic and colorectal cancers. 9264367 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE DPC4 and MADR2/JV18-1 are recently demonstrated to be altered in pancreatic and colorectal cancers, respectively. 9288786 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE These findings suggest that MADR2 is a tumor suppressor and that mutations acquired in colorectal carcinomas may function to disrupt TGFbeta signaling. 8752209 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease UNIPROT
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 GeneticVariation disease BEFREE CNC-, but not SHF-specific, deletion of Smad2 preserved aortic wall architecture and reduced aortic dilation in this mouse model of LDS. 30614814 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease BEFREE More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease GENOMICS_ENGLAND More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease BEFREE Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). 29350460 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease GENOMICS_ENGLAND More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.310 Biomarker group GENOMICS_ENGLAND De novo mutations in histone-modifying genes in congenital heart disease. 23665959 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.310 AlteredExpression group BEFREE From our results, we can conclude that maternal diabetes results in transient and localized alterations in CML, VEGF expression, and Smad2 phosphorylation overlapping with those regions of the developing heart that are most sensitive to diabetes-induced congenital heart disease. 19188426 2009
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
0.310 Biomarker disease CTD_human In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia. 18677313 2008
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
0.310 Biomarker disease BEFREE In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia. 18677313 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 PosttranslationalModification disease BEFREE TGF-β1-induced phosphorylation of Smad2 and Akt was enhanced in RIG-I-deficient HCC spheres, knockdown of AKT gene expression abolishing the augmentation of TGF-β1-induced Smad2 phosphorylation. 31088527 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 Biomarker disease BEFREE And we found that LY2109761 could inhibit cell proliferation by down-regulating the phosphorylation of Smad-2 as well as improved the therapeutic effect of TACE in a VX2 hepatocellular carcinoma model. 29416682 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 AlteredExpression disease BEFREE Immunohistochemistry (IHC), quantitative real-time PCR (qRT-PCR) or Western blot analysis was used to detect TRIM52, p21, matrix metalloproteinase 2 (MMP2), protein phosphatase, Mg<sup>2+</sup>/Mn<sup>2+</sup> dependent 1A (PPM1A), p-Smad2/3 and Smad2/3 levels in HCC tissues and cell lines. 29898761 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 AlteredExpression disease BEFREE In clinical HCC samples, GP73 positively correlated with TGF-β1/Smad2, which was upregulated in HCC. 29365054 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 AlteredExpression disease BEFREE Compared with the control, miR-340 was significantly lower in the serum of the HCC patients (p < 0.01). miR-340 was lower in HCC tissues than in adjacent; however, DcR3, TGF-β1 and Smad2 were higher (p < 0.01). 29311025 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 AlteredExpression disease BEFREE In analysis of correlation with tumor stage, both protein and mRNA expression of TGFβ1, Smad1, Smad2 and Smad4 in patients with stage III HCC were significantly lower than those with stage IV HCC (P < 0.001), while the protein and mRNA expression of Smad3 in patients with IV stage HCC was significantly higher in comparison to those with stage IV HCC (P < 0.001). 29799303 2018