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: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.180 None 1.000 165 59 1994 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 30 29 1994 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.170 None 1.000 365 201 1989 2018
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: 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: 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: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.120 None 1.000 39 64 1992 2018
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 0 1
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: 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: 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
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: 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: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 126 71 1995 2018
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: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 42 28 1995 2018
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.200 None 1.000 92 13 1992 2018
Entrez Id: 5965
Gene Symbol: RECQL
RECQL 		RecQ like helicase 0.615 0.615 1.5E-20
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 0 4
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 71 103 1989 2018
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D 		RAD51 paralog D 0.674 0.385 1.1E-09
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 31 51 1982 2018
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: 5890
Gene Symbol: RAD51B
RAD51B 		RAD51 paralog B 0.556 0.769 2.1E-15
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 0 1
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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.160 None 1.000 148 183 1997 2018