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: 2767
Gene Symbol: GNA11
GNA11 		G protein subunit alpha 11 0.563 0.731 0.89
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.430 None 1.000 1 1 2014 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3661
Gene Symbol: IRF3
IRF3 		interferon regulatory factor 3 0.517 0.808 1.2E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.420 None 1.000 1 7 2013 2017
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.140 None 1.000 1 3 2015 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.430 None 1.000 1 10 2001 2017
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.440 None 1.000 1 2 2014 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.500 None 0.963 1 38 1994 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.500 None 0.967 1 6 2001 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.500 None 0.979 1 12 2003 2020
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.140 None 1.000 1 3 2013 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.500 None 1.000 1 2 2009 2020