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: 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: 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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 None 0.984 3 84 1982 2020
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
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.978 3 5 1988 2020
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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.950 1 4 1991 2016
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.987 2 49 1995 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.974 0 2 1996 2018
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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 5 6 1998 2019
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.448 0.808 1.7E-15
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 1 3 1999 2018
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: 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: 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: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 1 5 2003 2019
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: 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: 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: 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: 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: 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: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 0 5 2006 2020
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: 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