Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Smad4 acts as tumor suppressor by antagonizing lymphangiogenesis in colorectal cancer. 25680269

2015

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. 17325551

2007

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN 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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker 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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Smad-dependent and Smad-independent pathways in TGF-beta family signalling. 14534577

2003

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269

2001

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker 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: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519

1998

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410

1998

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker CLINGEN Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123

1998

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.800 Biomarker 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: 2022
Gene Symbol: ENG
ENG
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.500 Biomarker 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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.500 Biomarker 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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
0.500 Biomarker CLINGEN Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957

2005