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: 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: 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: 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: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
activator of HSP90 ATPase activity 1 0.396 0.923 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2016 2016
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: 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: 1026
Gene Symbol: CDKN1A
CDKN1A
cyclin dependent kinase inhibitor 1A 0.403 0.769 1.9E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2010 2010
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: 3320
Gene Symbol: HSP90AA1
HSP90AA1
heat shock protein 90 alpha family class A member 1 0.411 0.923 0.86
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2016 2016