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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease UNIPROT
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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group 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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.050 Biomarker disease BEFREE The gene for MADR2 was found to reside on chromosome 18q21, near DPC4, another MADR protein implicated in pancreatic cancer. 8752209 1996
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.040 Biomarker disease BEFREE The gene for MADR2 was found to reside on chromosome 18q21, near DPC4, another MADR protein implicated in pancreatic cancer. 8752209 1996
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling. 8980228 1996
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.070 Biomarker phenotype BEFREE Cells that lack Smad2 may escape from TGF-beta-mediated growth inhibition and promote cancer progression. 9006934 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE This region contains the putative tumor suppressor gene DCC and two Mad (Mothers against dpp)-related genes, DPC4 and MADR2, which are both components in a transforming growth factor-beta-like signaling pathway. 9041179 1997
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.040 Biomarker disease BEFREE MAD-related genes on 18q21.1, Smad2 and Smad4, are altered infrequently in esophageal squamous cell carcinoma. 9197523 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Mutations increasing autoinhibition inactivate tumour suppressors Smad2 and Smad4. 9214507 1997
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Smad5 homologs Smad2 and DPC4 have recently been linked to human cancer. 9264367 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Smad5 homologs Smad2 and DPC4 have recently been linked to human cancer. 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE To confirm if inactivation of the DCC, DPC4, and MADR2/JV18-1 genes is involved in the pathogenesis of neuroblastoma and to clarify the mechanism of inactivation, we analyzed the expression of DCC, DPC4, and MADR2/JV18-1 in neuroblastoma cell lines and primary tumors by reverse transcription-PCR and investigated the mutations in the coding regions of these genes by PCR/reverse transcription-PCR single-strand conformation polymorphism. 9288786 1997
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 Biomarker disease BEFREE To confirm if inactivation of the DCC, DPC4, and MADR2/JV18-1 genes is involved in the pathogenesis of neuroblastoma and to clarify the mechanism of inactivation, we analyzed the expression of DCC, DPC4, and MADR2/JV18-1 in neuroblastoma cell lines and primary tumors by reverse transcription-PCR and investigated the mutations in the coding regions of these genes by PCR/reverse transcription-PCR single-strand conformation polymorphism. 9288786 1997
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 Biomarker disease BEFREE To confirm if inactivation of the DCC, DPC4, and MADR2/JV18-1 genes is involved in the pathogenesis of neuroblastoma and to clarify the mechanism of inactivation, we analyzed the expression of DCC, DPC4, and MADR2/JV18-1 in neuroblastoma cell lines and primary tumors by reverse transcription-PCR and investigated the mutations in the coding regions of these genes by PCR/reverse transcription-PCR single-strand conformation polymorphism. 9288786 1997
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 Biomarker disease BEFREE To confirm if inactivation of the DCC, DPC4, and MADR2/JV18-1 genes is involved in the pathogenesis of neuroblastoma and to clarify the mechanism of inactivation, we analyzed the expression of DCC, DPC4, and MADR2/JV18-1 in neuroblastoma cell lines and primary tumors by reverse transcription-PCR and investigated the mutations in the coding regions of these genes by PCR/reverse transcription-PCR single-strand conformation polymorphism. 9288786 1997
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN TGF-beta receptor-mediated signalling through Smad2, Smad3 and Smad4. 9311995 1997
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.020 Biomarker group BEFREE Thus, in this study we found no evidence that either Smad4 or Smad2 represents the Par2 lung tumor resistance locus or is a lung tumor suppressor gene in the B6CF1 mice. 9328171 1997
CUI: C0023418
Disease: leukemia
leukemia 		0.020 GeneticVariation disease BEFREE A total of 34 leukemia and lymphoma samples (17 clinical samples and 17 cell lines) were analyzed for mutations of the Smad2 gene by reverse transcriptase-polymerase chain reaction single strand conformation polymorphism (RT-PCR-SSCP) analysis. 9436926 1998
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 GeneticVariation disease BEFREE A total of 34 leukemia and lymphoma samples (17 clinical samples and 17 cell lines) were analyzed for mutations of the Smad2 gene by reverse transcriptase-polymerase chain reaction single strand conformation polymorphism (RT-PCR-SSCP) analysis. 9436926 1998
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 GeneticVariation group BEFREE A total of 34 leukemia and lymphoma samples (17 clinical samples and 17 cell lines) were analyzed for mutations of the Smad2 gene by reverse transcriptase-polymerase chain reaction single strand conformation polymorphism (RT-PCR-SSCP) analysis. 9436926 1998
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 GeneticVariation group BEFREE Our results suggest that resistance to cell growth inhibitory effects of TGF-beta in hematological malignancies is not due to alterations of the Smad2 gene. 9436926 1998