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: 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: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.100 None 1.000 1 2 2014 2014
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: 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: 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
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