Uveal Melanoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A uveal cancer that has_material_basis_in uvea pigment cells. (Human Disease Ontology, DOID_6039)
External Link https://www.disgenet.org/browser/0/1/0/C0220633
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Genes

331 genes associated with the disease Uveal Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABTB1 ankyrin repeat and BTB (POZ) domain containing 1
ACKR3 atypical chemokine receptor 3
ACTB actin, beta
ADA2 adenosine deaminase 2
ADAM10 ADAM metallopeptidase domain 10
ADAM17 ADAM metallopeptidase domain 17
ADPRHL1 ADP-ribosylhydrolase like 1
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AHNAK2 AHNAK nucleoprotein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALCAM activated leukocyte cell adhesion molecule
ALPI alkaline phosphatase, intestinal
ALPP alkaline phosphatase, placental
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
ANKRD36B ankyrin repeat domain 36B
ANXA2R annexin A2 receptor
APC adenomatous polyposis coli
APITD1-CORT APITD1-CORT readthrough
ARF6 ADP-ribosylation factor 6
ARHGAP24 Rho GTPase activating protein 24
ATG12 autophagy related 12
ATG5 autophagy related 5
ATM ATM serine/threonine kinase
ATN1 atrophin 1
B2M beta-2-microglobulin
B3GAT1 beta-1,3-glucuronyltransferase 1
BAD BCL2-associated agonist of cell death
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BMP7 bone morphogenetic protein 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAP BRCA1 associated protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
BRD9 bromodomain containing 9
BRS3 bombesin-like receptor 3
BTNL2 butyrophilin-like 2
BTNL9 butyrophilin-like 9
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCK cholecystokinin
CCL2 chemokine (C-C motif) ligand 2
CCL22 chemokine (C-C motif) ligand 22
CCN1 cellular communication network factor 1
CCND1 cyclin D1
CCR6 chemokine (C-C motif) receptor 6
CCR7 chemokine (C-C motif) receptor 7
CD160 CD160 molecule
CD163 CD163 molecule
CD274 CD274 molecule
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD68 CD68 molecule
CD80 CD80 molecule
CDC25B cell division cycle 25B
CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDK7 cyclin-dependent kinase 7
CDK9 cyclin-dependent kinase 9
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CENPS centromere protein S
CHAC1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1
CIB1 calcium and integrin binding 1 (calmyrin)
CIITA class II, major histocompatibility complex, transactivator
CKAP4 cytoskeleton-associated protein 4
CLPTM1L CLPTM1-like
CNKSR3 CNKSR family member 3
COASY CoA synthase
COL11A2 collagen, type XI, alpha 2
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR6 chemokine (C-X-C motif) receptor 6
CYSLTR1 cysteinyl leukotriene receptor 1
CYSLTR2 cysteinyl leukotriene receptor 2
DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
DES desmin
DICER1 dicer 1, ribonuclease type III
DLK2 delta-like 2 homolog (Drosophila)
DNER delta/notch-like EGF repeat containing
DPYSL2 dihydropyrimidinase-like 2
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFS embryonal Fyn-associated substrate
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF1 eukaryotic translation initiation factor 1
EIF1AX eukaryotic translation initiation factor 1A, X-linked
ERBB2 erb-b2 receptor tyrosine kinase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F3 coagulation factor III (thromboplastin, tissue factor)
FABP3 fatty acid binding protein 3, muscle and heart
FANCD2 Fanconi anemia, complementation group D2
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGF2 fibroblast growth factor 2 (basic)
FKBP4 FK506 binding protein 4, 59kDa
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FZD4 frizzled class receptor 4
GAB2 GRB2-associated binding protein 2
GDF11 growth differentiation factor 11
GDF15 growth differentiation factor 15
GFAP glial fibrillary acidic protein
GLI1 GLI family zinc finger 1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR151 G protein-coupled receptor 151
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
HDAC4 histone deacetylase 4
HDAC9 histone deacetylase 9
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HK2 hexokinase 2
HLA-A major histocompatibility complex, class I, A
HLA-G major histocompatibility complex, class I, G
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IAPP islet amyloid polypeptide
ICAM1 intercellular adhesion molecule 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDO1 indoleamine 2,3-dioxygenase 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL6 interleukin 6
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAG2 jagged 2
JMJD6 jumonji domain containing 6
KCTD12 potassium channel tetramerization domain containing 12
KIF15 kinesin family member 15
KISS1 KiSS-1 metastasis-suppressor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KTN1 kinectin 1 (kinesin receptor)
LATS1 large tumor suppressor kinase 1
LBH limb bud and heart development
LEP leptin
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LIPG lipase, endothelial
LPAR2 lysophosphatidic acid receptor 2
LPAR3 lysophosphatidic acid receptor 3
LRP1B low density lipoprotein receptor-related protein 1B
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1
MAGT1 magnesium transporter 1
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK3 mitogen-activated protein kinase 3
MBD4 methyl-CpG binding domain protein 4
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCAM melanoma cell adhesion molecule
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MIA melanoma inhibitory activity
MICA MHC class I polypeptide-related sequence A
MLANA melan-A
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MRPL28 mitochondrial ribosomal protein L28
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC13 mucin 13, cell surface associated
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAE1 NEDD8 activating enzyme E1 subunit 1
NBN nibrin
NES nestin
NF1 neurofibromin 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NGF nerve growth factor (beta polypeptide)
NLRP2 NLR family, pyrin domain containing 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NXT1 nuclear transport factor 2-like export factor 1
OCA2 oculocutaneous albinism II
OCM oncomodulin
OXER1 oxoeicosanoid (OXE) receptor 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PDCD1 programmed cell death 1
PEBP1 phosphatidylethanolamine binding protein 1
PERP PERP, TP53 apoptosis effector
PHB2 prohibitin 2
PHF10 PHD finger protein 10
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLCB4 phospholipase C, beta 4
PLG plasminogen
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POU5F1 POU class 5 homeobox 1
PRAME preferentially expressed antigen in melanoma
PRDX3 peroxiredoxin 3
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROM1 prominin 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSIP1 PC4 and SFRS1 interacting protein 1
PTEN phosphatase and tensin homolog
PTP4A3 protein tyrosine phosphatase type IVA, member 3
RAB31 RAB31, member RAS oncogene family
RAB8A RAB8A, member RAS oncogene family
RAD51 RAD51 recombinase
RARB retinoic acid receptor, beta
RASEF RAS and EF-hand domain containing
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBM15B RNA binding motif protein 15B
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RET ret proto-oncogene
RHPN1 rhophilin, Rho GTPase binding protein 1
RMC1 regulator of MON1-CCZ1
RNF2 ring finger protein 2
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL13A ribosomal protein L13a
RPS19 ribosomal protein S19
RTL1 retrotransposon-like 1
RUNX1 runt-related transcription factor 1
S100A2 S100 calcium binding protein A2
SCN10A sodium channel, voltage gated, type X alpha subunit
SDCBP syndecan binding protein (syntenin)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC14L2 SEC14-like 2 (S. cerevisiae)
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SESN2 sestrin 2
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SIL1 SIL1 nucleotide exchange factor
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SMR3B submaxillary gland androgen regulated protein 3B
SMS spermine synthase
SNAI2 snail family zinc finger 2
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1
SPANXA2 SPANX family, member A2
SPANXC SPANX family, member C
SPANXD SPANX family, member D
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRSF2 serine/arginine-rich splicing factor 2
SST somatostatin
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
SSTR4 somatostatin receptor 4
SSTR5 somatostatin receptor 5
STAP1 signal transducing adaptor family member 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUB1 SUB1 homolog (S. cerevisiae)
SULF2 sulfatase 2
TAZ tafazzin
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TDP1 tyrosyl-DNA phosphodiesterase 1
TERT telomerase reverse transcriptase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
THBS2 thrombospondin 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM97 transmembrane protein 97
TNF tumor necrosis factor
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TP63 tumor protein p63
TP73 tumor protein p73
TPI1 triosephosphate isomerase 1
TRIO trio Rho guanine nucleotide exchange factor
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TYR tyrosinase
USP19 ubiquitin specific peptidase 19
UVRAG UV radiation resistance associated
VEGFA vascular endothelial growth factor A
VIM vimentin
WARS1 tryptophanyl-tRNA synthetase 1
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YAP1 Yes-associated protein 1
ZBTB10 zinc finger and BTB domain containing 10
ZEB1 zinc finger E-box binding homeobox 1
ZNF654 zinc finger protein 654