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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 10481
Gene Symbol: HOXB13
HOXB13
homeobox B13 0.573 0.462 3.7E-08
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 26 1 1996 2017
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: 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: 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: 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