Gene: SMAD4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CTD_human
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. 9389648 1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508 1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CLINGEN Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. 9582123 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease UNIPROT We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CLINGEN Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells. 9482899 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. 9582123 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE Our results confirm that SMAD4 is a gene predisposing to JP and suggest the existence of further JP loci other than the SMAD2, SMAD3, or SMAD7 genes. 10441006 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE The DPC4/SMAD4 gene, lying in close proximity to the DCC gene at 18q21.1, was recently identified as a candidate tumor suppressor for the genesis of pancreatic cancer as well as a predisposing gene for Juvenile Polyposis Syndrome (JPS). 10479724 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease MGD These results are consistent with a recent report that germ-line SMAD4 mutations are found in a subset of familial juvenile polyposis. 10626800 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. 10455879 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709 2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Thus, mutations in PTEN are associated with JPS in addition to CD and some BRRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that reported for SMAD4, a gene found to be mutated in approximately one-half of the JPS families investigated. 11156385 2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE To examine the contribution of mutations in PTCH, PTEN, and DPC4 (SMAD4) to JPS. 10764709 2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE It has been suggested that the dpc4 (deleted in pancreatic carcinoma, locus 4) gene, which is located on chromosome 18q21.1, might cause juvenile polyposis. 10797267 2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267 2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE SMAD4 mutations give rise to juvenile polyposis syndrome, which is clinically similar to PJS. 11741830 2001
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. 11583957 2001
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. 11536076 2001