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 BEFREE SMAD4 immunohistochemstry is a helpful ancillary diagnostic test in cases of suspected juvenile polyposis syndrome involving the stomach. 28340255 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Retinal involvement in two unrelated patients with Myhre syndrome. 22683461 2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112 2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
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 CausalMutation disease CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648 2005
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination. 19135894 2009
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. 14526373 2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease GENOMICS_ENGLAND Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). 15754356 2005
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 CausalMutation disease CLINVAR Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 27302097 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Patients with juvenile polyposis syndrome and germline SMAD4 or BMPR1A mutations were identified from a prospectively maintained institutional registry. 25389115 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation. 22810475 2012
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 GeneticVariation disease CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937 2016
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 Biomarker disease BEFREE Although SMAD4 is among several genes in the TGFβ network, and although prior single case reports have described large vessel aneurysms in HHT, this is the first description of aortic and mitral disease presenting with JPS. 21465659 2011
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957 2005
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
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 GeneticVariation disease BEFREE In addition, mutations in mothers against decapentaplegic homolog 4 (SMAD4) are also seen in patients with the combined syndrome of juvenile polyposis and HHT. 19270816 2009
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697 2010