SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: JUVENILE POLYPOSIS OF STOMACH ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CLINGEN Smad4 acts as tumor suppressor by antagonizing lymphangiogenesis in colorectal cancer. 25680269 2015
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 GermlineCausalMutation disease ORPHANET The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CLINGEN Smad-dependent and Smad-independent pathways in TGF-beta family signalling. 14534577 2003
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease MGD Gastric and duodenal polyps in Smad4 (Dpc4) knockout mice. 10626800 1999
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410 1998
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CLINGEN Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123 1998
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519 1998
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CTD_human