Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.450 CausalMutation CLINVAR

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.450 GeneticVariation CLINVAR

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.450 GermlineCausalMutation ORPHANET

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.320 GermlineCausalMutation ORPHANET

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.110 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 GeneticVariation 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 AlteredExpression 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800

1972
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.040 Biomarker 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.030 Biomarker 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.300 Biomarker CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682

1997
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.040 GeneticVariation 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation UNIPROT Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 Biomarker CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.020 AlteredExpression 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997