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: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1 		Q6UWZ7 abraxas 1, BRCA1 A complex subunit 3 0.760 0.269 5.1E-07 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.110 None 1.000 159 257 1991 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.100 None 1.000 233 561 1989 2018
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		Q92560 BRCA1 associated protein 1 Enzyme 9 0.454 0.731 0.99 0.180 None 1.000 11 23 2011 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		Q99728 BRCA1 associated RING domain 1 7 0.597 0.538 1.4E-24 0.100 None 1.000 28 105 2003 2017
Entrez Id: 641
Gene Symbol: BLM
BLM 		P54132 BLM RecQ like helicase 2 0.535 0.808 1.5E-15 0.100 None 1.000 26 10 1995 2016
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		P36894 bone morphogenetic protein receptor type 1A Kinase 5 0.522 0.731 0.90 0.110 None 1.000 18 60 1997 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 0.150 None 1.000 744 705 1975 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.130 None 1.000 701 1021 1996 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.100 None 1.000 56 145 2004 2017
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		Q8NCR3 chromosome 11 open reading frame 65 32 0.670 0.462 2.0E-14 0.100 None 1.000 159 220 1996 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		P12830 cadherin 1 10 0.401 0.808 0.15 0.130 None 1.000 66 87 1994 2019
Entrez Id: 1019
Gene Symbol: CDK4
CDK4 		P11802 cyclin dependent kinase 4 Kinase 7 0.412 0.808 6.3E-02 0.100 None 0 1
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.110 None 1.000 135 49 1994 2017
Entrez Id: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1 		CDKN2B antisense RNA 1 2 0.491 0.769 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.100 None 1.000 106 133 1999 2019
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		P35221 catenin alpha 1 Cellular structure 2 0.584 0.538 0.97 0.100 None 0 1
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		Q9UPY3 dicer 1, ribonuclease III Enzyme 5 0.446 0.846 1.00 0.120 None 1.000 12 90 2009 2016
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		Q93063 exostosin glycosyltransferase 2 Enzyme 9 0.576 0.654 1.3E-09 0.100 None 0 1
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		Q00597 FA complementation group C 6 0.507 0.808 2.8E-13 0.100 None 1.000 23 6 1993 2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		Q86XK2 F-box protein 11 Enzyme 18 0.604 0.692 1.00 0.100 None 1.000 187 321 1994 2017
Entrez Id: 2271
Gene Symbol: FH
FH 		P07954 fumarate hydratase Enzyme 7 0.489 0.846 8.8E-02 0.150 None 1.000 70 63 1997 2019
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		Q8NFG4 folliculin 7 0.537 0.885 0.79 0.100 None 1.000 59 58 2000 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE 		Q30201 homeostatic iron regulator 13 0.436 0.846 2.6E-08 0.100 None 0 1
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		Q92826 homeobox B13 6 0.573 0.462 3.7E-08 0.100 None 1.000 26 1 1996 2017