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: 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: 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: 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: 2132
Gene Symbol: EXT2
EXT2
exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1
catenin alpha 1 0.584 0.538 0.97
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
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: 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: 51023
Gene Symbol: MRPS18C
MRPS18C
mitochondrial ribosomal protein S18C 0.890 0.154 8.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
nth like DNA glycosylase 1 0.623 0.615 5.7E-10
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.412 0.808 6.3E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
abraxas 1, BRCA1 A complex subunit 0.760 0.269 5.1E-07
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 0 1
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: 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: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 11 44 1997 2014
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: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 6 2 1996 2015
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: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 26 10 1995 2016
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
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: 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: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 187 321 1994 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: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 159 257 1991 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 None 1.000 135 49 1994 2017