Source: ALL

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: 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 2682 104 1992 2020
Entrez Id: 5890
Gene Symbol: RAD51B
RAD51B
RAD51 paralog B 0.556 0.769 2.1E-15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.913 23 64 2009 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 1468 54 1994 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 2998 43 1981 2020
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 1183 43 1982 2020
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 0.934 229 30 1996 2020
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.600 None 0.972 4122 24 1987 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 0.952 165 23 2001 2019
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 0.961 152 21 2007 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 0.943 141 21 1996 2020
Entrez Id: 5241
Gene Symbol: PGR
PGR
progesterone receptor 0.426 0.885 5.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.936 581 18 1985 2020
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.978 650 16 1993 2020
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1
cytochrome P450 family 24 subfamily A member 1 0.518 0.692 3.2E-23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.857 21 14 2001 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.974 570 13 1987 2020
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.952 42 13 2000 2019
Entrez Id: 6934
Gene Symbol: TCF7L2
TCF7L2
transcription factor 7 like 2 0.485 0.846 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 1.000 19 13 2008 2019
Entrez Id: 101054525
Gene Symbol: PGR-AS1
PGR-AS1
PGR antisense RNA 1 0.514 0.808
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.040 None 0.750 4 13 2002 2015
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0.846 13 12 2003 2018
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.010 None 1.000 1 12 2019 2019
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 46 11 2002 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0.897 39 11 1995 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.200 None 0.943 35 11 2000 2020
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.100 None 0 11
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.890 100 10 2002 2020
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.400 None 0.825 80 10 1997 2019