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: 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: 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: 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: 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: 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: 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: 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: 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: 1647
Gene Symbol: GADD45A
GADD45A 		growth arrest and DNA damage inducible alpha 0.526 0.769 4.4E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 0.667 3 0 2004 2018
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 1.000 3 0 2005 2008
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: 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
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: 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: 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: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 1.000 3 0 2000 2015
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2 		NLR family pyrin domain containing 2 0.515 0.731 1.4E-38
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 0.667 3 0 2012 2014
Entrez Id: 11186
Gene Symbol: RASSF1
RASSF1 		Ras association domain family member 1 0.420 0.808 4.9E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.030 None 0.667 3 0 2010 2014
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2008 2017
Entrez Id: 29116
Gene Symbol: MYLIP
MYLIP 		myosin regulatory light chain interacting protein 0.582 0.692 0.18
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2014 2016
Entrez Id: 22877
Gene Symbol: MLXIP
MLXIP 		MLX interacting protein 0.597 0.692 0.99
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2014 2016
Entrez Id: 57509
Gene Symbol: MTUS1
MTUS1 		microtubule associated scaffold protein 1 0.626 0.577 3.6E-11
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2007 2008
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 571
Gene Symbol: BACH1
BACH1 		BTB domain and CNC homolog 1 0.585 0.731 0.57
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 2006 2010
Entrez Id: 5617
Gene Symbol: PRL
PRL 		prolactin 0.406 0.885 2.9E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.020 None 1.000 2 0 1989 2006