Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GermlineCausalMutation disease ORPHANET
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.450 CausalMutation disease CLINVAR
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.450 GeneticVariation disease CLINVAR
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.450 GermlineCausalMutation disease ORPHANET
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
0.320 GermlineCausalMutation disease ORPHANET
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.110 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 CausalMutation disease CLINVAR "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""." 22520842 2012
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.030 Biomarker disease BEFREE <b>Background and Aims:</b> Despite the negative results of blocking IL-17 in Crohn's disease (CD) patients, selective modulation of Th17-dependent responses warrants further study. 30405600 2018
Entrez Id: 2597
Gene Symbol: GAPDH
GAPDH
0.010 AlteredExpression disease BEFREE <i>U2AF</i> combined with glyceraldehyde-3-phosphate dehydrogenase (GAPDH) showed stable expression in Cd-treated leaves and cold-treated roots. 28635628 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE 2HP-β-CD significantly increased vascular endothelial growth factor A (VEGF-A) and platelet-derived growth factor BB (PDGF-BB) peptides in human umbilical vein endothelial cells (HUVECs) and also increased basic fibroblast growth factor (bFGF) peptide in human aortic smooth muscle cells (HASMCs). 25944736 2015
Entrez Id: 2247
Gene Symbol: FGF2
FGF2
0.010 Biomarker disease BEFREE 2HP-β-CD significantly increased vascular endothelial growth factor A (VEGF-A) and platelet-derived growth factor BB (PDGF-BB) peptides in human umbilical vein endothelial cells (HUVECs) and also increased basic fibroblast growth factor (bFGF) peptide in human aortic smooth muscle cells (HASMCs). 25944736 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.430 CausalMutation disease CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden's disease is associated with germ-line mutations in the PTEN gene (10q22-23) and an increased risk of breast and thyroid malignancies. 11352305 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden's disease (CD) and Bannayan-Ruvalcaba-Riley syndrome (BRRS) are allelic disorders characterized by multiple hamartomatous overgrowths of the thyroid, breast, skin, and gastrointestinal tract, and an increased risk of developing benign and malignant tumors of the breast and thyroid gland, secondary to germline point mutations in the PTEN gene. 15067177 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden syndrome is a hereditary genetic disease whose incidence is still not precisely defined; it is due to a germline mutation in the PTEN gene. 15177429 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden syndrome (CS) is a rare and complex disease inherited through an autosomal dominant trait associated with germline mutations of the PTEN gene. 16373153 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 AlteredExpression disease BEFREE Cowden syndrome is a non-adenomatous gastrointestinal polyposis syndrome with inactivation of PTEN, a dual-phosphatase tumor suppressor gene. 16964417 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease CTD_human Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 CausalMutation disease CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. 21194675 2011
Entrez Id: 7450
Gene Symbol: VWF
VWF
0.020 Biomarker disease BEFREE CS patients were divided into groups A (increased VWF) and B (normal VWF). 21304226 2011
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.430 GeneticVariation disease BEFREE Cowden disease (CD) is a genetically heterogeneous inherited cancer syndrome that arises predominantly from germline phosphatase and tensin homologue deleted on chromosome 10 (PTEN) mutation and increased phosphoinositide 3-kinase/mammalian target of rapamycin (PI3K/mTOR) signalling. 21361912 2011