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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 1.000 definitive 0.977 608 189 1988 2020
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: 4193
Gene Symbol: MDM2
MDM2 		MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.400 None 0.933 15 1 2001 2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.350 None 1.000 7 1 1999 2017
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: 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: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.040 None 1.000 4 3 2013 2018
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.040 None 1.000 4 1 2012 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.030 None 1.000 3 0 1999 2010
Entrez Id: 3014
Gene Symbol: H2AX
H2AX 		H2A.X variant histone 0.484 0.808 0.18
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.020 None 1.000 2 0 2006 2010
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.020 None 1.000 2 0 2002 2019
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: 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: 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: 5315
Gene Symbol: PKM
PKM 		pyruvate kinase M1/2 0.482 0.808 0.85
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.020 None 1.000 2 0 2016 2018
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: 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: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.020 None 1.000 2 0 1991 1995
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1 		RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.020 None 1.000 2 0 2016 2019
Entrez Id: 55558
Gene Symbol: PLXNA3
PLXNA3 		plexin A3 0.670 0.769 5.5E-02
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 57045
Gene Symbol: TWSG1
TWSG1 		twisted gastrulation BMP signaling modulator 1 0.621 0.692 6.1E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9 		zinc finger DHHC-type palmitoyltransferase 9 0.670 0.577 0.74
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1995 1995