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: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.401 0.808 0.15
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 definitive 1.000 12 0 1991 2018
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.350 definitive 0.938 11 0 2001 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.400 definitive 0.939 9 0 2000 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.700 definitive 0.944 9 0 2006 2019
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.330 limited 1.000 8 0 2011 2017
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
RAD51 paralog D 0.674 0.385 1.1E-09
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.510 limited 1.000 8 0 2000 2019
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.540 0.846 7.8E-30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 limited 1.000 7 0 2005 2016
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 disputed 1.000 7 0 2010 2019
Entrez Id: 348654
Gene Symbol: GEN1
GEN1
GEN1 Holliday junction 5' flap endonuclease 0.682 0.500 3.7E-15
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 disputed 1.000 6 0 2011 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 disputed 1.000 6 0 2000 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.400 definitive 1.000 5 0 1998 2019
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
RecQ like helicase 0.615 0.615 1.5E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 moderate 1.000 5 0 2005 2019
Entrez Id: 60561
Gene Symbol: RINT1
RINT1
RAD50 interactor 1 0.743 0.231 5.3E-13
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 disputed 1.000 5 0 2001 2016
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 disputed 1.000 5 0 1998 2017
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.530 limited 1.000 4 0 1999 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 disputed 1.000 4 0 1995 2018
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.340 limited 0.714 4 0 2003 2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.340 limited 0.750 4 0 2000 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 disputed 1.000 4 0 2002 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.310 disputed 1.000 2 0 2003 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 0.500 0 0 2009 2017
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.451 0.885 1.3E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 0 0
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.320 1.000 0 0 2003 2010
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 0 0