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: 7514
Gene Symbol: XPO1
XPO1
exportin 1 0.586 0.655 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial 0.469 0.655 0.87
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 4 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.590 0.517 0.99
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.451 0.862 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.515 0.793 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.399 0.793 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 2 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1, cytosolic 0.463 0.690 3.3E-12
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 2 2016 2016