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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6423
Gene Symbol: SFRP2
SFRP2
secreted frizzled related protein 2 0.544 0.731 1.7E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2012 2012
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: 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: 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: 8804
Gene Symbol: CREG1
CREG1
cellular repressor of E1A stimulated genes 1 0.663 0.423 1.2E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2011 2011
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: 84991
Gene Symbol: RBM17
RBM17
RNA binding motif protein 17 0.760 0.308 1.00
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 0.010 None 1.000 1 0 2018 2018
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