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: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.110 None 1.000 1 3 2016 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.130 None 1.000 1 1 2002 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		ras homolog family member A 0.502 0.808 0.60
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.110 None 1.000 1 2 2008 2016
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: 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