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: 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: 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: 139818
Gene Symbol: DOCK11
DOCK11 		dedicator of cytokinesis 11 0.606 0.731 1.2E-02
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1994 1994
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
Entrez Id: 4771
Gene Symbol: NF2
NF2 		neurofibromin 2 0.468 0.885 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 5111
Gene Symbol: PCNA
PCNA 		proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None < 0.001 1 0 1996 1996
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1996 1996
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: 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: 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: 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: 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: 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: 8915
Gene Symbol: BCL10
BCL10 		BCL10 immune signaling adaptor 0.491 0.769 0.34
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1017
Gene Symbol: CDK2
CDK2 		cyclin dependent kinase 2 0.456 0.692 0.61
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 1999 1999
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: 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: 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: 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: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.010 None 1.000 1 0 2002 2002
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