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: 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: 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: 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: 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: 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: 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: 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: 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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.110 None 1.000 3 1 2002 2014
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: 7514
Gene Symbol: XPO1
XPO1
exportin 1 0.504 0.692 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.120 None 1.000 1 2 2016 2019
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: 2264
Gene Symbol: FGFR4
FGFR4
fibroblast growth factor receptor 4 0.490 0.769 7.2E-13
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.140 None 1.000 1 1 2003 2010
Entrez Id: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.502 0.808 0.60
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.140 None 1.000 1 3 2004 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.150 None 1.000 1 2 1997 2016
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.400 None 1.000 1 1 2016 2018
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.465 0.808 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.420 None 0.667 1 4 2008 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.430 None 1.000 1 1 2014 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.450 None 1.000 2 7 1988 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: 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: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.976 17 58 1976 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.978 13 34 2004 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.964 11 5 2002 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.975 7 13 1987 2020