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: 6037
Gene Symbol: RNASE3
RNASE3
ribonuclease A family member 3 0.490 0.808
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.020 None 1.000 2 0 1991 1995
Entrez Id: 693190
Gene Symbol: MIR605
MIR605
microRNA 605 0.644 0.423
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.020 None 1.000 2 1 2015 2020
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1243
Gene Symbol: CMM
CMM
cutaneous malignant melanoma/dysplastic nevus 0.670 0.385
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
interferon alpha 1 0.371 0.923
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
interferon alpha 13 0.374 0.923
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.090 None 0.889 9 0 1999 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.100 None 1.000 10 0 1999 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.700 None 0.963 27 5 1999 2017
Entrez Id: 22852
Gene Symbol: ANKRD26
ANKRD26
ankyrin repeat domain 26 0.711 0.308 3.6E-24
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1763
Gene Symbol: DNA2
DNA2
DNA replication helicase/nuclease 2 0.626 0.731 1.3E-18
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3665
Gene Symbol: IRF7
IRF7
interferon regulatory factor 7 0.547 0.846 4.5E-15
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.020 None 1.000 2 2 2009 2018
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 51428
Gene Symbol: DDX41
DDX41
DEAD-box helicase 41 0.636 0.538 5.6E-08
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.020 None 1.000 2 0 2016 2019
Entrez Id: 960
Gene Symbol: CD44
CD44
CD44 molecule (Indian blood group) 0.363 0.962 2.4E-07
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
occludin 0.507 0.846 8.6E-07
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1633
Gene Symbol: DCK
DCK
deoxycytidine kinase 0.561 0.692 1.5E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.020 None 1.000 2 0 2016 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None < 0.001 1 0 2004 2004
Entrez Id: 130872
Gene Symbol: AHSA2P
AHSA2P
activator of HSP90 ATPase homolog 2, pseudogene 0.805 0.346 1.8E-04
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2016 2016