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: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.569 0.552 7.3E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.800 definitive 0.964 9 0 2006 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.494 0.621 1.2E-23
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.700 definitive 0.947 9 0 2000 2018
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.624 0.379 2.2E-24
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.650 definitive 0.800 11 0 2001 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.586 0.552 4.8E-17
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.650 limited 1.000 6 0 2001 2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.502 0.759 2.6E-16
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.630 limited 0.667 4 0 2000 2015
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.609 0.586 4.2E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.620 limited 1.000 4 0 1999 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.520 disputed 1.000 6 0 2001 2017
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
RAD51 paralog D 0.707 0.310 1.0E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.510 limited < 0.001 8 0 2000 2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.495 0.586 2.2E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.510 disputed 1.000 4 0 2002 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.510 disputed 1.000 2 0 2003 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.551 0.621 2.7E-17
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.510 1.000 0 0 2010 2010
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 definitive 0.923 5 0 1998 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.526 0.586 1.2E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 disputed 4 0 1995 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 0 0 2006 2006
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.499 0.690 9.7E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 0 0
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
SLX4 structure-specific endonuclease subunit 0.672 0.517 2.3E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.330 limited 1.000 8 0 2011 2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
RAD50 double strand break repair protein 0.600 0.690 1.8E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.330 limited 0.333 4 0 2004 2012
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.614 0.517 1.1E-13
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 disputed 0.500 6 0 1988 2015
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.584 0.621 1.7E-29
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 limited 1.000 7 0 2005 2016
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
RecQ like helicase 0.659 0.552 8.7E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 moderate 1.000 5 0 2005 2016
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.554 0.724
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 disputed 1.000 5 0 1998 2017
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
checkpoint kinase 1 0.530 0.724 1.6E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 1.000 0 0 2004 2004
Entrez Id: 348654
Gene Symbol: GEN1
GEN1
GEN1, Holliday junction 5' flap endonuclease 0.773 0.207 4.6E-15
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 disputed 6 0 2011 2016
Entrez Id: 60561
Gene Symbol: RINT1
RINT1
RAD50 interactor 1 0.785 0.241 1.3E-11
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 disputed 5 0 2001 2016