Source: ALL

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: 861
Gene Symbol: RUNX1
RUNX1 		RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.010 None 1.000 1 0 2016 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: 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 41 64 1992 2018
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 0 1
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 31 29 1994 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 139 215 1990 2018
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 1.000 172 59 1994 2017
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: 4221
Gene Symbol: MEN1
MEN1 		menin 1 0.444 0.808 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.050 None 1.000 5 106 1999 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 13 90 2009 2016
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: 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 19 23 2011 2019
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: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 191 331 1994 2018
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: 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: 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 1.000 127 71 1995 2018
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5315
Gene Symbol: PKM
PKM 		pyruvate kinase M1/2 0.482 0.808 0.85
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 25859
Gene Symbol: PART1
PART1 		prostate androgen-regulated transcript 1 0.483 0.885
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 113 124 1995 2018
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: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 75 63 1997 2019
Entrez Id: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1 		CDKN2B antisense RNA 1 0.491 0.769
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 0 1
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 22 1 1987 2016