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: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.110 None 0.500 1 3 2001 2016
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: 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: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 2 2016 2016
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: 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: 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: 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: 369
Gene Symbol: ARAF
ARAF
A-Raf proto-oncogene, serine/threonine kinase 0.619 0.654 0.96
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 2 2016 2016
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
Entrez Id: 9125
Gene Symbol: CNOT9
CNOT9
CCR4-NOT transcription complex subunit 9 0.769 0.192 0.99
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.110 None 1.000 1 4 2015 2016