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: 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: 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: 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: 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: 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
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.080 None 0.875 8 3 2000 2015
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.070 None 0.857 7 1 1995 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.060 None 0.833 6 0 2002 2019
Entrez Id: 60500
Gene Symbol: BRCA3
BRCA3 		breast cancer 3 0.705 0.269
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.060 None 1.000 6 0 2007 2017
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.050 None 1.000 5 1 2009 2019
Entrez Id: 142
Gene Symbol: PARP1
PARP1 		poly(ADP-ribose) polymerase 1 0.389 0.923 3.3E-04
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.050 None 1.000 5 0 2012 2015
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: 7515
Gene Symbol: XRCC1
XRCC1 		X-ray repair cross complementing 1 0.421 0.923 6.3E-09
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.040 None 0.750 4 2 2006 2016
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: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.040 None 1.000 4 0 2012 2015
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: 115761
Gene Symbol: ARL11
ARL11 		ADP ribosylation factor like GTPase 11 0.670 0.423 5.3E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.040 None 1.000 4 4 2006 2011
Entrez Id: 7251
Gene Symbol: TSG101
TSG101 		tumor susceptibility 101 0.588 0.615 0.34
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 1.000 3 0 1998 2002
Entrez Id: 4193
Gene Symbol: MDM2
MDM2 		MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 0.667 3 0 2006 2011
Entrez Id: 3294
Gene Symbol: HSD17B2
HSD17B2 		hydroxysteroid 17-beta dehydrogenase 2 0.656 0.385 1.8E-10
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 1.000 3 0 1994 2007
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: 5245
Gene Symbol: PHB
PHB 		prohibitin 0.511 0.846 0.76
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 1.000 3 0 1992 2008