DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Endometrial Neoplasms ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs10457678

ECT2L

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs1057519854

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs1057519901

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

17525745

2007

dbSNP:

rs1057520027

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

17525745

2007

dbSNP:

rs1057520028

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

17525745

2007

dbSNP:

rs1057520029

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

17525745

2007

dbSNP:

rs11085466

LOC101929007

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs11150038

CLEC3A

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs121913396

CTNNB1

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913400

CTNNB1

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913475

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913477

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913477

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Targeting mutant fibroblast growth factor receptors in cancer.

21367659

2011

dbSNP:

rs121913478

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913478

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Targeting mutant fibroblast growth factor receptors in cancer.

21367659

2011

dbSNP:

rs12970291

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs1512436

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs17035310

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs17503919

RNGTT

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs2052678

TMTC1

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs28931588

CTNNB1

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs3181245

TDP2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs3184504

ATXN2 ; SH2B3

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs387906678

FGFR2

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs4378954

LSAMP

CUI:	C0014170
Disease:	Endometrial Neoplasms

Endometrial Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015