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: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.551 0.621 2.7E-17
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.460 1.000 24 9 1993 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.500 1.000 8 4 2000 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.500 1.000 3 2 1997 2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.200 1.000 2 1 2005 2018
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.569 0.655 2.6E-13
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.100 2 1 2015 2017
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.140 1.000 2 1 1987 2017
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.648 0.517 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.110 1.000 2 1 2006 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.130 1.000 2 1 2004 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.700 0.968 2 5 2002 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.586 0.552 4.8E-17
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.110 1.000 2 1 2011 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.200 0.961 1 2 1991 2018
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
axin 2 0.570 0.552 0.66
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.140 1.000 1 2 2000 2013
Entrez Id: 8915
Gene Symbol: BCL10
BCL10
B cell CLL/lymphoma 10 0.505 0.655 0.35
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.110 1.000 1 1 1999 2002
Entrez Id: 10395
Gene Symbol: DLC1
DLC1
DLC1 Rho GTPase activating protein 0.573 0.655 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.100 1 1 2000 2000
Entrez Id: 25788
Gene Symbol: RAD54B
RAD54B
RAD54 homolog B 0.701 0.345 4.8E-13
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.420 1.000 1 1 1999 2002
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
mutL homolog 3 0.630 0.345 7.5E-08
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.100 1 1 2001 2001
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ
protein tyrosine phosphatase, receptor type J 0.636 0.379 7.8E-12
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.450 1.000 1 2 2002 2010
Entrez Id: 5782
Gene Symbol: PTPN12
PTPN12
protein tyrosine phosphatase, non-receptor type 12 0.681 0.552 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.420 1.000 1 1 1994 2014
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.388 0.828 0.14
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.500 0.977 1 4 1998 2017
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.500 0.946 1 1 1991 2016
Entrez Id: 581
Gene Symbol: BAX
BAX
BCL2 associated X, apoptosis regulator 0.450 0.862 0.30
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.190 1.000 1 2 1997 2014
Entrez Id: 699
Gene Symbol: BUB1
BUB1
BUB1 mitotic checkpoint serine/threonine kinase 0.586 0.655 3.0E-09
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.120 0.500 1 1 1998 2002
Entrez Id: 1630
Gene Symbol: DCC
DCC
DCC netrin 1 receptor 0.504 0.655 0.99
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.170 0.857 1 1 1992 2017
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.130 0.667 1 2 2000 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease 0.110 1.000 1 2 2002 2010