Source: CLINVAR

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: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 limited 0.896 17 62 1996 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.967 5 1 1983 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.985 0 2 2001 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 strong 0.956 0 77 1992 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 strong 0.951 0 108 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.973 0 9 1982 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.963 85 139 2001 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.970 84 220 2006 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.951 22 97 2001 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 strong 0.956 0 1 1997 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 limited 1.000 0 3 1991 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.700 None 0.932 0 42 1996 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.700 None 0.947 0 1 2005 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.500 None 0.894 0 1 2002 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.500 None 0.933 0 1 1995 2020
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		homeobox B13 0.573 0.462 3.7E-08
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.500 None 0.933 0 1 2004 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.500 None 0.909 0 1 2000 2019
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1 		ATP binding cassette subfamily C member 1 0.445 0.808 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.500 None 0.972 0 3 1995 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.400 None 0.976 0 1 1993 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.200 None 0.909 0 1 2000 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.200 None 1.000 0 2 2007 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.200 None 0.931 0 1 2000 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.200 None 0.917 0 1 2006 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.160 None 0.833 0 2 2007 2020
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		F-box protein 11 0.604 0.692 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.110 None 1.000 0 1 2016 2016