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: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.800 strong 0.972 5 13 1990 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.800 strong 0.973 3 2 1993 2020
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.800 strong 0.966 0 1 1993 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.800 strong 0.971 0 2 1993 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 0.983 0 3 1997 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 0.985 0 5 2002 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 0.947 0 7 1989 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 0.976 0 5 2002 2020
Entrez Id: 699
Gene Symbol: BUB1
BUB1
BUB1 mitotic checkpoint serine/threonine kinase 0.528 0.731 4.9E-09
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 1.000 0 1 2000 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 limited 0.885 0 1 2003 2019
Entrez Id: 1630
Gene Symbol: DCC
DCC
DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.700 None 0.946 0 1 1990 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.660 None 1.000 0 8 2000 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.640 None 1.000 1 4 1996 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 strong 0.947 22 9 2002 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 strong 0.967 0 1 1998 2020
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
axin 2 0.507 0.692 0.57
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 0.905 0 3 2001 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 0.938 0 4 2000 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 0.975 0 3 1994 2020
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 1.000 0 2 1994 2019
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
mutL homolog 3 0.582 0.538 4.9E-08
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 0.833 0 1 2000 2019
Entrez Id: 4163
Gene Symbol: MCC
MCC
MCC regulator of WNT signaling pathway 0.568 0.731 4.7E-16
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 0.929 0 2 1991 2018
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.490 None 1.000 0 1 2014 2019
Entrez Id: 10395
Gene Symbol: DLC1
DLC1
DLC1 Rho GTPase activating protein 0.529 0.731 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.450 None 1.000 0 1 2013 2019
Entrez Id: 5157
Gene Symbol: PDGFRL
PDGFRL
platelet derived growth factor receptor like 0.769 0.385 1.2E-14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.410 None 1.000 0 1 1995 2010
Entrez Id: 4539
Gene Symbol: ND4L
ND4L
NADH dehydrogenase, subunit 4L (complex I) 0.805 0.308
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.400 None 0 1