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: 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: 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: 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: 8915
Gene Symbol: BCL10
BCL10
BCL10 immune signaling adaptor 0.491 0.769 0.34
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.160 None 0.833 0 1 1999 2015
Entrez Id: 581
Gene Symbol: BAX
BAX
BCL2 associated X, apoptosis regulator 0.417 0.885 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.200 None 0.969 0 1 1998 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.110 None 1.000 1 1 2012 2016
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.200 None 1.000 1 3 1998 2019
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: 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: 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: 4519
Gene Symbol: CYTB
CYTB
cytochrome b 0.529 0.808
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.400 None 0 1
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: 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: 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: 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: 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: 101927279
Gene Symbol: EP300-AS1
EP300-AS1
EP300 antisense RNA 1 0.839 0.231
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 0 1
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
FA complementation group E 0.553 0.808 1.5E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 100861412
Gene Symbol: FSBP
FSBP
fibrinogen silencer binding protein 0.821 0.231 7.1E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 0 1
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: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.400 None 0 4
Entrez Id: 101928167
Gene Symbol: LINC01917
LINC01917
long intergenic non-protein coding RNA 1917 0.931 0.115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 0 1
Entrez Id: 91749
Gene Symbol: MFSD4B
MFSD4B
major facilitator superfamily domain containing 4B 0.805 0.269 8.3E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.100 None 1.000 1 1 2016 2016