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: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.401 0.808 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 1.000 0 0 1991 2019
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: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.120 None 1.000 0 0 2008 2015
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: 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: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.944 0 0 1997 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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.966 0 0 1997 2020
Entrez Id: 54894
Gene Symbol: RNF43
RNF43
ring finger protein 43 0.584 0.577 0.73
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 0
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: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.170 None 0.857 0 0 1998 2018
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: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.906 0 0 1998 2019
Entrez Id: 9821
Gene Symbol: RB1CC1
RB1CC1
RB1 inducible coiled-coil 1 0.653 0.538 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.470 None 1.000 0 0 2002 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: 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: 841
Gene Symbol: CASP8
CASP8
caspase 8 0.404 0.923 3.7E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.980 0 0 2004 2019
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: 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: 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: 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: 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: 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