Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		Q99728 BRCA1 associated RING domain 1 7 0.597 0.538 1.4E-24 1.000 limited 0.896 17 62 1996 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		P03372 estrogen receptor 1 Nuclear receptor 4 0.324 0.962 1.00 1.000 None 0.967 5 1 1983 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 1.000 None 0.985 0 2 2001 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 1.000 strong 0.956 0 77 1992 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 1.000 strong 0.951 0 108 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 1.000 None 0.973 0 9 1982 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.800 None 0.963 85 139 2001 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.800 None 0.970 84 220 2006 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.800 None 0.951 22 97 2001 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.800 strong 0.956 0 1 1997 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		P12830 cadherin 1 10 0.401 0.808 0.15 0.800 limited 1.000 0 3 1991 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.700 None 0.932 0 42 1996 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.700 None 0.947 0 1 2005 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN 		O60934 nibrin Nucleic acid binding 15 0.467 0.808 2.2E-16 0.500 None 0.894 0 1 2002 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.500 None 0.933 0 1 1995 2020
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		Q92826 homeobox B13 6 0.573 0.462 3.7E-08 0.500 None 0.933 0 1 2004 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		P52701 mutS homolog 6 Nucleic acid binding 18 0.462 0.731 3.7E-05 0.500 None 0.909 0 1 2000 2019
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1 		P33527 ATP binding cassette subfamily C member 1 Transporter 1 0.445 0.808 1.2E-03 0.500 None 0.972 0 3 1995 2019
Entrez Id: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.400 None 0.976 0 1 1993 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		P40692 mutL homolog 1 Nucleic acid binding 15 0.399 0.808 3.4E-05 0.200 None 0.909 0 1 2000 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		P07949 ret proto-oncogene Kinase 36 0.392 0.885 1.00 0.200 None 1.000 0 2 2007 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 20 0.406 0.808 0.90 0.200 None 0.931 0 1 2000 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		Q9UIF7 mutY DNA glycosylase Enzyme 16 0.521 0.769 1.3E-18 0.200 None 0.917 0 1 2006 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 33 0.484 0.808 4.5E-27 0.160 None 0.833 0 2 2007 2020
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		Q86XK2 F-box protein 11 Enzyme 18 0.604 0.692 1.00 0.110 None 1.000 0 1 2016 2016