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: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.300 None 1.000 2 1 2002 2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		ras homolog family member A 0.502 0.808 0.60
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.110 None 1.000 1 2 2008 2016
Entrez Id: 7514
Gene Symbol: XPO1
XPO1 		exportin 1 0.504 0.692 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE 		DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.400 None 1.000 1 3 2013 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.100 None 1.000 1 2 2016 2016