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: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.500 None 0.983 20 12 1990 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.500 None 1.000 8 8 1996 2016
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.500 None 0.976 1 1 2003 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.700 None 0.989 2 67 1991 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.700 None 0.985 1 6 1997 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.900 None 0.982 17 9 1990 2019