Source: CLINVAR

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: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.700 None 0.975 1 7 1988 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.500 None 0.977 1 2 1997 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.500 None 0.967 1 5 2005 2019
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.500 None 0.955 1 1 2012 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.400 None 0.976 1 48 1990 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 1.000 1 3 2004 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 0.944 1 29 2000 2020
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 1.000 1 1 1988 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 0.975 1 2 2008 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 0.882 1 2 1994 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.200 None 1.000 0 1 2000 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.190 None 1.000 0 1 2003 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.140 None 0.800 1 1 2004 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.140 None 1.000 1 2 1996 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.140 None 1.000 0 1 2007 2017
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.465 0.808 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.130 None 1.000 1 3 2005 2018
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.130 None 1.000 1 1 2016 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.130 None 1.000 1 2 1987 2016
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.120 None 1.000 0 1 2008 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS
MYCN opposite strand 0.700 0.462
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.100 None 0 1