Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.450 None 1.000 0 1 2003 2008
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1 		Rho associated coiled-coil containing protein kinase 1 0.513 0.731 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.120 None 1.000 1 1 2005 2010
Entrez Id: 5426
Gene Symbol: POLE
POLE 		DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.110 None 1.000 1 2 2009 2016
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 2 3 2006 2013
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.450 None 1.000 0 1 2004 2008
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 0 2
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2 		splicing factor 3b subunit 2 0.780 0.308 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 2 2016 2016