Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker CTD_human Transcriptional profiling endometrial carcinomas microdissected from DES-treated mice identifies changes in gene expression associated with estrogenic tumor promotion. 16804899

2006

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker CTD_human Human endometrial carcinomas, as well as complex atypical hyperplasias (CAH), are estrogen related and frequently have mutations in the PTEN gene. 16402032

2006

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation UNIPROT MSH6 mutation carriers have later age of onset of both colorectal cancer (62 vs. 51 years) and endometrial cancer (58 vs. 48 years) and a larger proportion of endometrial cancer than MLH1 or MSH2 mutation carriers. 14961575

2004

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker CTD_human In the present study, we have used an endometrial cancer cell line known to possess wild-type PTEN (HEC-1-A) and two mutated inactive PTEN protein cell lines (RL-95-2 and Ishikawa) to investigate importance of PI 3-K/PTEN/Akt survival pathway in endometrial cancers. 12888921

2003

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation UNIPROT Among MMR genes, germline MSH6 mutations are often observed in HNPCC-like families with an increased frequency of endometrial cancer. 11153917

2000

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker CTD_human Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker CTD_human PTEN1 is frequently mutated in primary endometrial carcinomas. 9326929

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800

1972

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 CausalMutation CGI

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation UNIPROT

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 CausalMutation CGI

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GenomicAlterations CGI

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker CTD_human Discovery of 3-(2,6-dichloro-3,5-dimethoxy-phenyl)-1-{6-[4-(4-ethyl-piperazin-1-yl)-phenylamino]-pyrimidin-4-yl}-1-methyl-urea (NVP-BGJ398), a potent and selective inhibitor of the fibroblast growth factor receptor family of receptor tyrosine kinase. 21936542

2011

Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker CTD_human Mutations of the E-cadherin gene in human gynecologic cancers. 8075649

1994

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 CausalMutation CGI

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 CausalMutation CGI

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 GenomicAlterations CGI

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 CausalMutation CGI

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 CausalMutation CGI