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: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.200 None 0.909 1 6 2003 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.200 None 0.923 1 33 1993 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.200 None 1.000 1 2 2009 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.130 None 1.000 4 6 1988 2016
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN 		kinetochore localized astrin (SPAG5) binding protein 0.729 0.500 2.1E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.120 None 1.000 1 1 2014 2019
Entrez Id: 51340
Gene Symbol: CRNKL1
CRNKL1 		crooked neck pre-mRNA splicing factor 1 0.711 0.385 2.7E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3661
Gene Symbol: IRF3
IRF3 		interferon regulatory factor 3 0.517 0.808 1.2E-04
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 83596
Gene Symbol: BCL2L12
BCL2L12 		BCL2 like 12 0.606 0.654 3.8E-09
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8859
Gene Symbol: STK19
STK19 		serine/threonine kinase 19 0.691 0.500 6.7E-09
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 2 2016 2016