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 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: 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 CausalMutation disease CLINVAR Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. 9389648 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: 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 Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. 9506519 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 GeneticVariation disease BEFREE Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123 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 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 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 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 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 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: 6794
Gene Symbol: STK11
STK11 		0.030 Biomarker disease BEFREE Given the rare involvement of LKB1 in sporadic cancers, these data also suggest that the indirect effect on cancer risk (or 'bystander effect') proposed for hamartomas in juvenile polyposis does not apply to carcinomas in PJS. 10398133 1999
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: 4090
Gene Symbol: SMAD5
SMAD5 		0.010 GeneticVariation disease BEFREE Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. 10446110 1999