Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 26 0.588 0.577 0.98 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 10 0.477 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		P48735 isocitrate dehydrogenase (NADP(+)) 2 9 0.434 0.808 0.88 0.100 None 1.000 1 4 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.100 None 1.000 1 2 2016 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 40 0.428 0.808 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 7514
Gene Symbol: XPO1
XPO1 		O14980 exportin 1 Receptor 5 0.504 0.692 1.00 0.100 None 1.000 1 2 2016 2016