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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 None 0.983 56 31 1986 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0025202
Disease: melanoma
melanoma
disease 0.800 strong 0.950 2 4 1994 2020
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0025202
Disease: melanoma
melanoma
disease 0.800 None 1.000 1 1 1984 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0025202
Disease: melanoma
melanoma
disease 0.800 strong 0.950 0 3 1997 2020
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 0.969 21 10 1987 2020
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 1.000 11 14 2003 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 0.967 9 1 1989 2019
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
G protein subunit alpha 11 0.563 0.731 0.89
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 1.000 5 1 1989 2019
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.412 0.808 6.3E-02
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 strong 0.961 1 1 1994 2020
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
erb-b2 receptor tyrosine kinase 4 0.455 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 0.917 1 6 2009 2018
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 None 1.000 1 4 1999 2018
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0025202
Disease: melanoma
melanoma
disease 0.700 strong 0.950 0 1 2010 2019
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0025202
Disease: melanoma
melanoma
disease 0.670 None 1.000 2 5 2011 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.967 35 20 1992 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.986 9 12 1996 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.965 2 1 2005 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.976 1 1 2002 2020
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 1.000 1 2 2002 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.870 0 2 1996 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 1.000 0 1 2007 2019
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.490 None 1.000 1 5 2007 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0025202
Disease: melanoma
melanoma
disease 0.150 None 0.600 0 1 2011 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0025202
Disease: melanoma
melanoma
disease 0.150 None 0.800 0 1 2004 2013
Entrez Id: 10302
Gene Symbol: SNAPC5
SNAPC5
small nuclear RNA activating complex polypeptide 5 1.000 0.038 2.0E-04
CUI: C0025202
Disease: melanoma
melanoma
disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.100 None 0 1