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 Appendectomy, tonsillectomy, and neoplasia. 1097835 1975
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
0.010 GeneticVariation disease BEFREE DPB1 subtyping showed the DPB1*0301 allele more frequently (p less than 0.005) in CD patients but this difference was no longer significant when patients and controls, both heterozygous for the DR3-DQw2 haplotype, were compared. 1349446 1992
Entrez Id: 1950
Gene Symbol: EGF
EGF
0.010 AlteredExpression disease BEFREE Additionally, we measured epidermal growth factor (EGF) in body fluids from CD patients and controls to determine if elevated EGF levels might be responsible for the widespread epithelial proliferation in CD. 3487976 1986
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.040 Biomarker disease BEFREE The gene for Cowden syndrome has recently been located and it will now be possible to assess whether it is responsible for the set of families not accounted for by BRCA1 and BRCA2. 8875258 1996
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.030 Biomarker disease BEFREE The gene for Cowden syndrome has recently been located and it will now be possible to assess whether it is responsible for the set of families not accounted for by BRCA1 and BRCA2. 8875258 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.300 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.040 GeneticVariation disease BEFREE Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions. 9018120 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease UNIPROT Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease GENOMICS_ENGLAND Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease BEFREE Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease CTD_human Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease UNIPROT Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 Biomarker disease CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.020 AlteredExpression disease BEFREE Compared to controls, IL-1 beta mRNA levels were increased in involved tissue from Crohn's disease (CD) patients, but not in histologically uninvolved CD or in ulcerative colitis (UC) mucosa. 9246063 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 CausalMutation disease CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
1.000 GeneticVariation disease CLINVAR We confirmed that the PTEN/MMAC1 gene is indeed the gene for Cowden disease by a refined localization of the gene to the interval between D10S1761 and D10S541, which contains the PTEN/MMAC1 gene and, by mutation analysis in eight unrelated familial and 11 sporadic patients with Cowden disease. 9259288 1997