Melanoma

Disease Term Disease ID Gene Symbol Classification References Source
CUTANEOUS MELANOMA
EFO_0000389
TMEM163 Unknown
32341527
GWAS catalog
TMEM170B Unknown
32341527
GWAS catalog
TP53 Unknown
32341527 34813871 39024449
GWAS catalog
TPCN2 Unknown
26237428 32341527
GWAS catalog
TTC7B Unknown
30429480
GWAS catalog
TYR Unknown
30429480 32341527 34813871 39024449
GWAS catalog
TYRP1 Unknown
32341527 34813871
GWAS catalog
UGT1A10 Unknown
31605138
GWAS catalog
UGT1A6 Unknown
31605138
GWAS catalog
UGT1A7 Unknown
31605138
GWAS catalog
UGT1A8 Unknown
31605138
GWAS catalog
UGT1A9 Unknown
31605138
GWAS catalog
UPK3A Unknown
32341527
GWAS catalog
WDPCP Unknown
26237428
GWAS catalog
XPO4 Unknown
31605138
GWAS catalog
ZFP36L1 Unknown
32341527 34813871
GWAS catalog
ZNG1A Unknown
32341527
GWAS catalog
FAMILIAL MELANOMA
618
CDK4 Causal
19585149
Orphanet
CDKN2A Causal
19585149
Orphanet
MITF Causal
25431349
Orphanet
ACD Unknown
25431349
Orphanet
BAP1 Unknown
25431349
Orphanet
CDKN2B Unknown — Orphanet
MC1R Unknown
24238329 24258989
Orphanet
MGMT Unknown
24801985
Orphanet
POT1 Unknown
24686846 24686849
Orphanet
TERF2IP Unknown
25431349
Orphanet
TERT Unknown
23348503
Orphanet
MELANOMA
EFO_0000756MESH:D008545
ATM Causal
21983787 28212542 34290314
CTD GWAS catalog
BRAF Causal
18421705 19282848 20973932 21499247 21606968 21639808 21656352 21770473 21802280 22535842 22842228 23237741 23432625 23584600 23587417 24154489 25043973 26192916 26214590 27222248 27689874 29426936 29574239 31580832
CTD
CDKN2A Causal
24495407 29426936 32887889
CTD GWAS catalog
GNAQ Causal
23432625
CTD
HRAS Causal
30619488
CTD
MITF Causal
25043973 34724200 39141363
CTD GWAS catalog
MYO7A Causal
22535842
CTD
NF1 Causal
25119042 26214590
CTD
NRAS Causal
22535842 22842228 23432625 25043973 26214590 29574239
CTD
OCA2 Causal
28212542 32887889 34290314 39141363
GWAS catalog
PTEN Causal
10978354 19282848 22535842
CTD
SPG7 Causal
32887889
GWAS catalog
TP53 Causal
17210701 21691232 22842228 29574239 32887889 39141363
CTD GWAS catalog
ABCB5 Unknown
15899824
CTD
ACER3 Unknown
22535842
CTD
ACSF3 Unknown
32887889
GWAS catalog
ADAMTS20 Unknown
21559390
CTD
ADGRV1 Unknown
32887889
GWAS catalog
AHR Unknown
28212542 32887889 34290314 34813871 39141363
GWAS catalog
AKR1B10 Unknown
21499247
CTD
ALDH1A1 Unknown
31580832
CTD
ALDH1A3 Unknown
31580832
CTD