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: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.200 None 0.963 27 7 1995 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.040 None 1.000 4 0 1999 2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.020 None 1.000 2 0 1999 2006
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2622
Gene Symbol: GAS8
GAS8
growth arrest specific 8 0.636 0.654 1.1E-12
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 25913
Gene Symbol: POT1
POT1
protection of telomeres 1 0.560 0.731 0.85
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 1 2017 2017
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
small muscle protein X-linked 0.682 0.500 0.62
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1444
Gene Symbol: CSHL1
CSHL1
chorionic somatomammotropin hormone like 1 0.647 0.577 3.1E-12
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
disease 0.010 None < 0.001 1 0 2001 2001