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 0.321 0.828 0.38
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.700 0.909 1 7 1995 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.630 1.000 1 2 2000 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.500 0.842 1 7 2000 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.500 1.000 1 37 1993 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.500 0.915 1 12 2003 2018
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.449 0.724 7.8E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.500 1.000 1 2 2000 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.440 1.000 1 2 2009 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.462 0.793 0.89
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.440 1.000 1 1 2005 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.430 1.000 1 9 2001 2016
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
G protein subunit alpha 11 0.609 0.586 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.420 1.000 1 1 2014 2016
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.470 0.931 0.71
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.420 1.000 1 2 2015 2016
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.559 0.586 0.97
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.410 1.000 1 2 2013 2016
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.410 1.000 1 1 2010 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.410 1.000 1 7 2013 2016
Entrez Id: 5537
Gene Symbol: PPP6C
PPP6C
protein phosphatase 6 catalytic subunit 0.743 0.172 0.85
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.400 1 1 2016 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.400 1 11 2016 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.459 0.759 0.91
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.400 1 6 2016 2016
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.421 0.759 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.120 1.000 1 3 2015 2016
Entrez Id: 9125
Gene Symbol: CNOT9
CNOT9
CCR4-NOT transcription complex subunit 9 0.785 0.172
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.110 1.000 1 4 2015 2016
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.110 1.000 1 2 2009 2016
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.382 0.724 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.110 1.000 1 3 2013 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
splicing factor 3b subunit 2 0.799 0.276 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 1 1 2016 2016
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.526 0.552 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 1 3 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1, cytosolic 0.463 0.690 3.3E-12
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 1 2 2016 2016
Entrez Id: 51340
Gene Symbol: CRNKL1
CRNKL1
crooked neck pre-mRNA splicing factor 1 0.799 0.172 3.2E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 1 1 2016 2016