Source: HPO

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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.934 0 0 1996 2020
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.180 None 1.000 0 0 2006 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.955 0 0 1992 2020
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.824 0 0 2003 2018
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.950 0 0 1994 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.952 0 0 2001 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.860 0 0 1996 2020
Entrez Id: 3161
Gene Symbol: HMMR
HMMR
hyaluronan mediated motility receptor 0.544 0.615 5.5E-21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.490 None 0.889 0 0 2002 2019
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.961 0 0 2007 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.950 0 0 2003 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.891 0 0 2002 2019
Entrez Id: 8438
Gene Symbol: RAD54L
RAD54L
RAD54 like 0.633 0.423 2.4E-15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.420 None 0.500 0 0 2017 2017
Entrez Id: 7373
Gene Symbol: COL14A1
COL14A1
collagen type XIV alpha 1 chain 0.674 0.615 1.4E-14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 1.000 0 0 2017 2017
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.969 0 0 2010 2019
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 1.000 0 0 2008 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.130 None 0.667 0 0 2012 2018
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D 0.513 0.808 2.2E-11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.960 0 0 2002 2020
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
X-ray repair cross complementing 3 0.505 0.769 1.9E-10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.915 0 0 2002 2019
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
nth like DNA glycosylase 1 0.623 0.615 5.7E-10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
RAD51 paralog D 0.674 0.385 1.1E-09
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.923 0 0 2004 2019
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
alpha and gamma adaptin binding protein 0.695 0.538 3.9E-07
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.944 0 0 2005 2019
Entrez Id: 4835
Gene Symbol: NQO2
NQO2
N-ribosyldihydronicotinamide:quinone reductase 2 0.628 0.500 8.8E-07
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.430 None 1.000 0 0 2009 2011