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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.700 None 0.949 1 7 1995 2016
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: 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: 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: 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: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.412 0.808 6.3E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.500 None 1.000 1 2 1999 2016
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: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.440 None 1.000 1 1 2005 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.440 None 1.000 1 2 2000 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: 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: 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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.410 None 1.000 1 11 2006 2016
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.410 None 1.000 1 2 2013 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.400 None 1.000 1 6 2016 2016
Entrez Id: 5537
Gene Symbol: PPP6C
PPP6C
protein phosphatase 6 catalytic subunit 0.729 0.231 0.86
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.400 None 1.000 1 1 2016 2016
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: 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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.120 None 1.000 1 2 2001 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: 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
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.447 0.846 0.56
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 83596
Gene Symbol: BCL2L12
BCL2L12
BCL2 like 12 0.606 0.654 3.8E-09
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
kinetochore localized astrin (SPAG5) binding protein 0.729 0.500 2.1E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 1 2016 2016