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: 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: 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: 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: 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: 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: 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: 56154
Gene Symbol: TEX15
TEX15
testis expressed 15, meiosis and synapsis associated 0.769 0.115 5.0E-25
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5793
Gene Symbol: PTPRG
PTPRG
protein tyrosine phosphatase receptor type G 0.619 0.731 5.1E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 1 2005 2005
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
nuclear factor kappa B subunit 1 0.396 0.923 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5187
Gene Symbol: PER1
PER1
period circadian regulator 1 0.556 0.731 2.9E-04
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5429
Gene Symbol: POLH
POLH
DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57630
Gene Symbol: SH3RF1
SH3RF1
SH3 domain containing ring finger 1 0.780 0.231 1.1E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 574501
Gene Symbol: MIR499A
MIR499A
microRNA 499a 0.519 0.846
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 54967
Gene Symbol: CT55
CT55
cancer/testis antigen 55 0.736 0.308 0.49
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.551 0.731 5.9E-23
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4481
Gene Symbol: MSR1
MSR1
macrophage scavenger receptor 1 0.553 0.654 2.2E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4437
Gene Symbol: MSH3
MSH3
mutS homolog 3 0.474 0.769 7.4E-31
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None < 0.001 1 1 2012 2012
Entrez Id: 4047
Gene Symbol: LSS
LSS
lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.010 None 1.000 1 0 2000 2000