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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.900 None 0.971 0 0 1982 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.968 0 0 1981 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.950 0 0 1987 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.987 0 0 2001 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: 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: 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: 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: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.992 0 0 1999 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: 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: 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: 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: 5245
Gene Symbol: PHB
PHB
prohibitin 0.511 0.846 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.944 0 0 1993 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: 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: 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: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.899 0 0 1994 2020
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.943 0 0 1996 2020
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.922 0 0 1993 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.964 0 0 1995 2020
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: 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