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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 1.000 1 5 1999 2016
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.325 0.862 0.50
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 0.923 1 1 2002 2017
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.616 0.345 1.8E-25
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.400 1 3 2013 2016
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.352 0.862 1.8E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 1.000 1 7 2002 2016
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
EPH receptor B2 0.425 0.759 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 1.000 1 1 2001 2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.321 0.828 0.38
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 1.000 1 2 2004 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.462 0.793 0.89
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.160 1.000 1 1 2002 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.511 0.759 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.130 1.000 1 7 2004 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.459 0.759 0.91
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.120 1 4 2005 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.443 0.793 0.71
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.120 1.000 1 2 2014 2016
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.499 0.759 0.48
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 1 3 2007 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.565 0.586 0.86
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 1 2 2008 2016
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.473 0.690 6.7E-15
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 1.000 1 1 2011 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 1 3 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: 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: 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: 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: 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: 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
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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 0.936 2 65 1991 2016
Entrez Id: 208
Gene Symbol: AKT2
AKT2
AKT serine/threonine kinase 2 0.512 0.655 0.61
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 2 1 2005 2015
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 1.000 4 8 1985 2016
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.450 1.000 6 1 2004 2016