Melanoma

Disease Term Disease ID Gene Symbol Classification References Source
Cutaneous Melanoma C0151779 BRAF Causal Pathogenic evidence from ClinVar 26619011 ClinVar
CDK4 Causal Pathogenic evidence from ClinVar 26619011 ClinVar
CDKN2A Causal Pathogenic evidence from ClinVar 22080950, 26619011 ClinVar
PTEN Causal Pathogenic evidence from ClinVar 26619011 ClinVar
STK11 Causal Pathogenic evidence from ClinVar - ClinVar
AHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26237428, 30429480 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26619011 -
ARNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30429480 -
ATM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30429480 -
B2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26619011 -
BAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25231345, 26719535 -
melanoma C0025202 BRAF Causal Pathogenic evidence from ClinVar 2493360, 2872605, 12068308, 12460918, 12460919, 14679157, 16096377, 18060073, 18421705, 18794803, 19010912, 19238210, 19282848, 19404918, 20141835, 20551065, 20630094, 20818844, 20973932, 21156289, 21483012, 21499247, 21606968, 21639808, 21656352, 21750866, 21770473, 21802280, 22048237, 22351686, 22356324, 22389471, 22535842, 22536370, 22608338, 22649091, 22663011, 22735384, 22743296, 22798288, 22805292, 22842228, 22972589, 22997239, 23020132, 23031422, 23237741, 23248257, 23273605, 23317446, 23432625, 23524406, 23584600, 23587417, 23614898, 23715574, 23833300, 23918947, 24154489, 24388723, 24508103, 24576830, 24583796, 24586605, 24710085, 24918823, 25043973, 25157968, 25370471, 25656898, 26192916, 26214590, 26678033, 27222248, 27689874, 29426936, 29574239, 31580832 ClinVar
CDK4 Causal Pathogenic evidence from ClinVar 25157968 ClinVar
CDKN2A Causal Pathogenic evidence from ClinVar 21609436, 24495407, 25157968, 29426936 ClinVar
PTEN Causal Pathogenic evidence from ClinVar 9140396, 10978354, 12471211, 19282848, 22535842 ClinVar
STK11 Causal Pathogenic evidence from ClinVar 10208439 ClinVar
ABCB5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15899824 -
ABL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACER3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
ACVR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADAMTS20 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21559390 -
AFG3L1P Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19578364, 21706340, 21926416, 28212542 -
AHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28212542 -
AKR1B10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21499247 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24265152 -
AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALDH1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31580832 -
ALDH1A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31580832 -
ALK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21706340 -
APEX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16373707 -
ARL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
ARL5B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
ARNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21983785 -
ASF1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
ASIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18488027, 18641652, 21983785 -
ATM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21983787, 28212542 -
AURKA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
BAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BARD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BATF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22535842 -
NON RARE IN EUROPE: Melanoma 411533 BRAF Causal Pathogenic evidence from ClinVar - ClinVar
Familial melanoma 618 CDK4 Causal Pathogenic evidence from ClinVar - ClinVar
CDKN2A Causal Pathogenic evidence from ClinVar - ClinVar
ACD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Melanoma of soft tissue 97338 ATF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -