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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.700 None 0.989 2 67 1991 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.490 None 1.000 16 32 2004 2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 None 0.976 1 1 2003 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 None 1.000 1 2 2003 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.700 None 0.985 1 6 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.160 None 1.000 11 5 2004 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 None 0.978 33 10 2002 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 None 0.983 20 12 1990 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 None 1.000 1 7 2002 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 None 1.000 1 2 2010 2016
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.900 None 0.982 17 9 1990 2019
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
EPH receptor B2 0.374 0.846 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.190 None 1.000 1 1 2001 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.200 None 1.000 3 8 1985 2016
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: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.410 None 1.000 9 6 2006 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.500 None 1.000 8 8 1996 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.130 None 1.000 1 1 2002 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.130 None 1.000 1 2 2014 2019
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: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
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: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.120 None 1.000 1 4 2005 2016
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.447 0.846 0.56
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 None 1.000 1 3 2007 2016
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.448 0.808 1.7E-15
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.110 None 1.000 1 1 2011 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.465 0.808 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.120 None 1.000 1 7 2004 2016