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: 7516
Gene Symbol: XRCC2
XRCC2 		X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 3 2 2012 2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.180 None 1.000 11 23 2011 2019
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 2 4 2011 2014
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127 		transmembrane protein 127 0.638 0.615 1.3E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 4 6 2010 2016
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 1 1 2010 2010
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.120 None 1.000 12 90 2009 2016
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2 		succinate dehydrogenase complex assembly factor 2 0.604 0.692 2.8E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 6 3 2009 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 110 293 2007 2017
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 7 2 2006 2017
Entrez Id: 114034
Gene Symbol: TOE1
TOE1 		target of EGR1, exonuclease 0.682 0.462 6.0E-16
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 2 2 2006 2007
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 56 145 2004 2017
Entrez Id: 6391
Gene Symbol: SDHC
SDHC 		succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 35 16 2003 2018
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 28 105 2003 2017
Entrez Id: 4149
Gene Symbol: MAX
MAX 		MYC associated factor X 0.553 0.769 0.83
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 6 9 2003 2017
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 50 65 2002 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 123 83 2001 2017
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		folliculin 0.537 0.885 0.79
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 59 58 2000 2019
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP 		myosin phosphatase Rho interacting protein 0.556 0.885 0.98
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 37 25 2000 2019
Entrez Id: 101927761
Gene Symbol: TH2LCRR
TH2LCRR 		T helper type 2 locus control region associated RNA 0.751 0.385
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 10 22 2000 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 106 133 1999 2019
Entrez Id: 10111
Gene Symbol: RAD50
RAD50 		RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 31 164 1999 2017
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 21 55 1999 2017
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 72 31 1998 2016
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 36 92 1998 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 35 35 1998 2017