Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN Smad4 acts as tumor suppressor by antagonizing lymphangiogenesis in colorectal cancer. 25680269

2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes. 15235019

2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN Smad-dependent and Smad-independent pathways in TGF-beta family signalling. 14534577

2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. 9582123

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 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: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519

1998