Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.110 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.170 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.170 GeneticVariation CLINVAR

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.200 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Epidermal growth factor receptor blockers for the treatment of ovarian cancer. 21975775

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Profound growth inhibition and apoptosis were observed in CI-1040-treated cancer cells with mutations in either KRAS or BRAF in comparison with the ovarian cancer cells containing wild-type sequences. 19018267

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 CausalMutation CLINVAR Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm. 21683865

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483

2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 CausalMutation CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626

2018
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514

2016