Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.800 strong 0.972 5 13 1990 2020
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 47 0.455 0.846 1.00 0.490 None 1.000 0 1 2014 2019
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2 		Q9Y2T1 axin 2 3 0.507 0.692 0.57 0.500 None 0.905 0 3 2001 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.700 None 0.976 0 5 2002 2020
Entrez Id: 8915
Gene Symbol: BCL10
BCL10 		O95999 BCL10 immune signaling adaptor 9 0.491 0.769 0.34 0.160 None 0.833 0 1 1999 2015
Entrez Id: 581
Gene Symbol: BAX
BAX 		Q07812 BCL2 associated X, apoptosis regulator Signaling 2 0.417 0.885 0.32 0.200 None 0.969 0 1 1998 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.110 None 1.000 1 1 2012 2016
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.200 None 1.000 1 3 1998 2019
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 1 0.528 0.731 4.9E-09 0.700 None 1.000 0 1 2000 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.700 None 0.983 0 3 1997 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.700 limited 0.885 0 1 2003 2019
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		P00156 cytochrome b 8 0.529 0.808 0.400 None 0 1
Entrez Id: 4512
Gene Symbol: COX1
COX1 		P00395 cytochrome c oxidase subunit I Enzyme 11 0.441 0.885 0.500 None 1.000 0 2 1994 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2 		P00403 cytochrome c oxidase subunit II Enzyme 6 0.352 0.962 0.500 None 0.975 0 3 1994 2020
Entrez Id: 1630
Gene Symbol: DCC
DCC 		P43146 DCC netrin 1 receptor 9 0.471 0.808 0.99 0.700 None 0.946 0 1 1990 2019
Entrez Id: 10395
Gene Symbol: DLC1
DLC1 		Q96QB1 DLC1 Rho GTPase activating protein 5 0.529 0.731 1.00 0.450 None 1.000 0 1 2013 2019
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 28 0.459 0.846 1.00 0.640 None 1.000 1 4 1996 2017
Entrez Id: 101927279
Gene Symbol: EP300-AS1
EP300-AS1 		EP300 antisense RNA 1 5 0.839 0.231 0.100 None 0 1
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		Q00597 FA complementation group C 6 0.507 0.808 2.8E-13 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2178
Gene Symbol: FANCE
FANCE 		Q9HB96 FA complementation group E 2 0.553 0.808 1.5E-06 0.100 None 1.000 1 1 2016 2016
Entrez Id: 100861412
Gene Symbol: FSBP
FSBP 		O95073 Q9Y620 fibrinogen silencer binding protein 1 0.821 0.231 7.1E-04 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.660 None 1.000 0 8 2000 2018
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		Q8NFG4 folliculin 7 0.537 0.885 0.79 0.400 None 0 4
Entrez Id: 101928167
Gene Symbol: LINC01917
LINC01917 		long intergenic non-protein coding RNA 1917 3 0.931 0.115 0.100 None 0 1
Entrez Id: 91749
Gene Symbol: MFSD4B
MFSD4B 		Q5TF39 major facilitator superfamily domain containing 4B Transporter 1 0.805 0.269 8.3E-06 0.100 None 1.000 1 1 2016 2016