Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease CTD_human
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease MGD
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CTD_human
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.630 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. 8397373 1993
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. 9389648 1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation disease BEFREE Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. 9371495 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation disease BEFREE Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997
Entrez Id: 324
Gene Symbol: APC
APC 		0.010 GeneticVariation disease BEFREE The APC gene mutation of familial juvenile polyposis in this case suggests a genetic relationship with familial adenomatous polyposis. 9382065 1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease BEFREE Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease 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 		1.000 GeneticVariation disease UNIPROT We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 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 		1.000 Biomarker disease CLINGEN A gene for familial juvenile polyposis maps to chromosome 18q21.1. 9545410 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease CLINGEN Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 GeneticVariation disease CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 CausalMutation disease CLINVAR 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: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation disease BEFREE Germ-line mutations in PTEN have also been described in Cowden disease and in a small number of patients with juvenile polyposis syndrome. 9661881 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation disease BEFREE PTEN mutations may also be responsible for some cases of juvenile polyposis. 9708796 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE Our results confirm that SMAD4 is a gene predisposing to JP and suggest the existence of further JP loci other than the SMAD2, SMAD3, or SMAD7 genes. 10441006 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease BEFREE The DPC4/SMAD4 gene, lying in close proximity to the DCC gene at 18q21.1, was recently identified as a candidate tumor suppressor for the genesis of pancreatic cancer as well as a predisposing gene for Juvenile Polyposis Syndrome (JPS). 10479724 1999
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		1.000 Biomarker disease MGD These results are consistent with a recent report that germ-line SMAD4 mutations are found in a subset of familial juvenile polyposis. 10626800 1999