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: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1 		CDKN2B antisense RNA 1 2 0.491 0.769 0.100 None 0 1
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: 5890
Gene Symbol: RAD51B
RAD51B 		O15315 RAD51 paralog B 2 0.556 0.769 2.1E-15 0.100 None 0 1
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: 6605
Gene Symbol: SMARCE1
SMARCE1 		Q969G3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 4 0.572 0.769 1.00 0.100 None 0 1
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: 5965
Gene Symbol: RECQL
RECQL 		P46063 RecQ like helicase Enzyme 1 0.615 0.615 1.5E-20 0.100 None 0 4
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: 4913
Gene Symbol: NTHL1
NTHL1 		P78549 nth like DNA glycosylase 1 Enzyme 6 0.623 0.615 5.7E-10 0.100 None 0 1
Entrez Id: 51023
Gene Symbol: MRPS18C
MRPS18C 		Q9Y3D5 mitochondrial ribosomal protein S18C Nucleic acid binding 2 0.890 0.154 8.8E-05 0.100 None 0 1
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: 6598
Gene Symbol: SMARCB1
SMARCB1 		Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 43 0.434 0.846 1.00 0.100 None 1.000 1 1 2010 2010
Entrez Id: 114034
Gene Symbol: TOE1
TOE1 		Q96GM8 target of EGR1, exonuclease Nucleic acid binding 2 0.682 0.462 6.0E-16 0.100 None 1.000 2 2 2006 2007
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 9 0.450 0.885 1.00 0.100 None 1.000 2 4 2011 2014
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		O43543 X-ray repair cross complementing 2 2 0.512 0.731 4.0E-07 0.100 None 1.000 3 2 2012 2017
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127 		O75204 transmembrane protein 127 4 0.638 0.615 1.3E-02 0.100 None 1.000 4 6 2010 2016
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2 		Q9NX18 succinate dehydrogenase complex assembly factor 2 3 0.604 0.692 2.8E-06 0.110 None 1.000 6 3 2009 2017
Entrez Id: 5426
Gene Symbol: POLE
POLE 		Q07864 DNA polymerase epsilon, catalytic subunit 10 0.526 0.731 8.0E-27 0.100 None 1.000 6 2 1996 2015
Entrez Id: 4149
Gene Symbol: MAX
MAX 		P61244 MYC associated factor X Transcription factor 4 0.553 0.769 0.83 0.100 None 1.000 6 9 2003 2017
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		P28340 DNA polymerase delta 1, catalytic subunit 3 0.507 0.769 2.4E-06 0.100 None 1.000 7 2 2006 2017
Entrez Id: 101927761
Gene Symbol: TH2LCRR
TH2LCRR 		T helper type 2 locus control region associated RNA 4 0.751 0.385 0.100 None 1.000 10 22 2000 2017
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: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 1.000 11 44 1997 2014
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: 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