Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CLINGEN Smad4 acts as tumor suppressor by antagonizing lymphangiogenesis in colorectal cancer. 25680269 2015
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 GermlineCausalMutation disease ORPHANET The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 GermlineCausalMutation disease ORPHANET The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease CLINGEN Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. 17325551 2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease CLINGEN BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling. 15378062 2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CLINGEN The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CLINGEN Smad-dependent and Smad-independent pathways in TGF-beta family signalling. 14534577 2003
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease CLINGEN Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease CLINGEN Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269 2001
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease MGD Gastric and duodenal polyps in Smad4 (Dpc4) knockout mice. 10626800 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CLINGEN Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 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 		0.800 Biomarker disease CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519 1998
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease MGD
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 Biomarker disease CTD_human
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.800 Biomarker disease CTD_human
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.500 Biomarker disease CLINGEN Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/β-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer. 27127133 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.500 Biomarker disease CLINGEN Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.500 GeneticVariation disease ORPHANET Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612 2008
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.500 GeneticVariation disease ORPHANET ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. 17204053 2007
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.500 Biomarker disease CLINGEN Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957 2005
Entrez Id: 324
Gene Symbol: APC
APC 		0.020 AlteredExpression disease BEFREE We evaluated beta-catenin and full-length APC protein expression in JPs from children with JPs and JPC. 15557107 2005
Entrez Id: 324
Gene Symbol: APC
APC 		0.020 GeneticVariation disease BEFREE Familial juvenile polyposis coli with APC gene mutation. 9382065 1997
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12 		0.010 AlteredExpression disease BEFREE COX-2 expression was also significantly higher in the JPC group compared to SRPs. 27072264 2016