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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.120 None 1.000 1 19 2016 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 8354
Gene Symbol: H3C11
H3C11 		H3 clustered histone 11 0.663 0.308 8.5E-03
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 9 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		H3.3 histone A 0.559 0.692 0.12
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease 0.100 None 1.000 1 3 2016 2016