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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.956 12 34 2005 2018
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 1.000 11 1 2002 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.352 0.862 1.8E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.958 7 14 1987 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.971 6 82 1983 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 1.000 5 5 1999 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.937 4 45 1987 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.940 4 37 1995 2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.355 0.897 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 0.965 3 5 1988 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.110 1.000 3 1 2002 2015
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.494 0.621 1.2E-23
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 0.750 2 2 2002 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 0.875 2 7 1989 2016
Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1
Rho associated coiled-coil containing protein kinase 1 0.579 0.517 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.120 1 1 2005 2010
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.590 0.517 0.99
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
exportin 1 0.586 0.655 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.600 0.552 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 3 2013 2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.526 0.552 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 1 2016 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.511 0.759 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.420 < 0.001 1 4 2008 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
splicing factor 3b subunit 2 0.799 0.276 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.420 1.000 1 1 2015 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.616 0.345 1.8E-25
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.110 1 2 2009 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.150 1.000 1 2 1997 2016
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.448 0.724 3.5E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 1 2016 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.565 0.586 0.86
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.140 1 3 2004 2016
Entrez Id: 695
Gene Symbol: BTK
BTK
Bruton tyrosine kinase 0.524 0.690 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 1 2 2014 2014
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.473 0.690 6.7E-15
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 1.000 1 3 1990 2017