Source: GENOMICS_ENGLAND

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: 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 0 1993 2020
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 0 0 1990 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 0 1993 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 0 0 1993 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 0 2003 2019
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 0 1989 2020
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.700 strong 0.981 0 0 1996 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 limited 0.984 1 0 2002 2020
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 strong 1.000 0 0 1998 2019
Entrez Id: 5426
Gene Symbol: POLE
POLE 		DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 strong 1.000 0 0 2013 2020
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 strong 0.944 0 0 1995 2020
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 strong 0.974 0 0 1988 2020
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 0 1998 2020
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 0 0 2002 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.400 strong 0.964 0 0 2000 2019
Entrez Id: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.400 None 0.953 0 0 1997 2019
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1 		nth like DNA glycosylase 1 0.623 0.615 5.7E-10
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.390 strong 1.000 0 0 2006 2019
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.340 strong 1.000 0 0 2015 2018