Source: BEFREE

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 0.485 0.769 3.0E-19
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.700 definitive 0.944 31 2 2006 2019
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 3 1 1999 2019
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 1 1 2000 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.400 None 0.946 295 12 1993 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.400 None 0.961 203 3 1995 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 25 0 2000 2019
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 17 2 1998 2019
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 5 4 2001 2019
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: 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: 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 3 0 2011 2017
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 2 1 1998 2017
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 2 0 2005 2019
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 2 1 2010 2019
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 2 0 2000 2017
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 2 0 2003 2010
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 2 0 2009 2017
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 1 0 2005 2016
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 1 1 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 1 0 2003 2017
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 1 0 1991 2018
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D 		protein phosphatase, Mg2+/Mn2+ dependent 1D 0.513 0.808 2.2E-11
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.100 None 0.969 32 6 1992 2019
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.100 None 0.909 11 1 1999 2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.080 None 0.875 8 0 2007 2019