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: 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: 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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 None 1.000 744 705 1975 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: 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 1.000 112 124 1995 2018
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: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.130 None 1.000 701 1021 1996 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 159 220 1996 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: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 23 6 1993 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: 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: 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: 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