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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 None 1.000 1 3 2016 2016
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: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 None 1.000 1 4 2016 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
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