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 GeneticVariation disease BEFREE Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS. 18178612 2008
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472 2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Nine affected SMAD4 mutation-positive family members were screened and treated for manifestations of JPS. 22617360 2012
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Microdeletions of one of the two predisposing genes to JP, BMPR1A, have been associated with a severe form of JP called juvenile polyposis of infancy. 21834858 2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
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: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		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 From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. 14526373 2003
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis. 12630959 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: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome. 25129392 2014
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