MCID: MLN069
MIFTS: 61

Melanoma, Uveal

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melanoma, Uveal

MalaCards integrated aliases for Melanoma, Uveal:

Name: Melanoma, Uveal 57
Uveal Melanoma 12 59 55 44 15 73
Malignant Melanoma of Choroid 73
Malignant Melanoma of Iris 73
Choroidal Melanoma 59
Melanoma of Uvea 12
Iris Melanoma 59

Characteristics:

Orphanet epidemiological data:

59
uveal melanoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: adult,elderly;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma, uveal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 155720
Disease Ontology 12 DOID:6039
MeSH 44 C536494
NCIt 50 C7712
Orphanet 59 ORPHA39044
UMLS via Orphanet 74 C0346388 C0220633 C0346373
MESH via Orphanet 45 C536494
ICD10 via Orphanet 34 C69.3
MedGen 42 C0220633

Summaries for Melanoma, Uveal

Disease Ontology : 12 A uveal cancer that has material basis in uvea pigment cells.

MalaCards based summary : Melanoma, Uveal, also known as uveal melanoma, is related to intraocular melanoma and melanoma. An important gene associated with Melanoma, Uveal is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are MicroRNAs in cancer and UVA-Induced MAPK Signaling. The drugs Ranibizumab and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and testes, and related phenotypes are retinal detachment and visual loss

Wikipedia : 76 Uveal melanoma is a cancer (melanoma) of the eye involving the iris, ciliary body, or choroid... more...

Description from OMIM: 155720

Related Diseases for Melanoma, Uveal

Diseases in the Melanoma, Uveal family:

Melanoma, Uveal 1 Melanoma, Uveal 2
Posterior Uveal Melanoma

Diseases related to Melanoma, Uveal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 intraocular melanoma 32.9 GNAQ GNA11
2 melanoma 31.2 CDKN2A PAUPAR NRAS MIRLET7B MIR193B MALAT1
3 skin melanoma 30.2 TYR NRAS CDKN2A
4 melanoma, cutaneous malignant 1 30.2 GNA11 CDKN2A BAP1 NRAS GNAQ
5 myeloma, multiple 29.9 NRAS MIRLET7B MALAT1 CDKN2A
6 posterior uveal melanoma 12.5
7 malignant iris melanoma 12.4
8 necrotic uveal melanoma 12.4
9 melanoma, uveal 1 12.3
10 melanoma, uveal 2 12.3
11 mixed cell uveal melanoma 12.3
12 malignant choroid melanoma 12.2
13 ocular melanoma 11.6
14 tumor predisposition syndrome 11.4
15 choroid mixed cell melanoma 11.3
16 bap1 tumor predisposition syndrome 11.2
17 uveal epithelioid cell melanoma 11.2
18 spindle cell intraocular melanoma 11.2
19 choroid necrotic melanoma 11.2
20 melanoma metastasis 10.4
21 retinoblastoma 10.4
22 phakomatosis cesioflammea 10.3 GNAQ GNA11
23 uveal disease 10.3 GNAQ GNA11 BAP1
24 malignant conjunctival melanoma 10.3 NRAS GNAQ GNA11
25 conjunctival cancer 10.3 NRAS GNAQ GNA11
26 retinal detachment 10.3
27 mucosal melanoma 10.3 GNAQ GNA11 NRAS
28 ocular cancer 10.3 GNAQ GNA11 CDKN2A
29 ovarian serous carcinoma 10.3 MIRLET7B MIR143
30 melanomatosis 10.3 NRAS GNAQ GNA11 CDKN2A
31 meningeal melanomatosis 10.3 NRAS GNAQ GNA11 CDKN2A
32 neovascular glaucoma 10.3
33 myotonic dystrophy 10.3
34 myotonia atrophica 10.3
35 meningeal melanocytoma 10.3 NRAS GNAQ GNA11 CDKN2A
36 acral lentiginous melanoma 10.2 NRAS CDKN2A
37 laryngeal squamous cell carcinoma 10.2 MALAT1 HOXA11-AS CDKN2A
38 malignant spindle cell melanoma 10.2 TYR NRAS
39 vulva squamous cell carcinoma 10.2 MALAT1 CDKN2A
40 central nervous system melanocytic neoplasm 10.2 TYR NRAS GNAQ GNA11 CDKN2A
41 macular retinal edema 10.2
42 nodular malignant melanoma 10.2 NRAS GNAQ
43 cervical cancer 10.2 MIRLET7B MIR143 MALAT1 HOXA11-AS CDKN2A
44 anxiety 10.1
45 herpes simplex 10.1
46 depression 10.1
47 leukemia, acute myeloid 10.1 SF3B1 NRAS MIRLET7B MALAT1
48 melanocytic nevus syndrome, congenital 10.1 TYR NRAS
49 posterior scleritis 10.1
50 phacomatosis pigmentovascularis 10.1

Graphical network of the top 20 diseases related to Melanoma, Uveal:



Diseases related to Melanoma, Uveal

Symptoms & Phenotypes for Melanoma, Uveal

Symptoms via clinical synopsis from OMIM:

57
Eyes:
uveal melanoma

Misc:
most common primary intraocular malignancy
frequent loss of chromosome 3 material and additions of chromosome 8


Clinical features from OMIM:

155720

Human phenotypes related to Melanoma, Uveal:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
2 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
3 inflammatory abnormality of the eye 59 32 very rare (1%) Very rare (<4-1%) HP:0100533
4 mydriasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011499
5 ocular pain 59 32 very rare (1%) Very rare (<4-1%) HP:0200026
6 increased intraocular pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0007906
7 metamorphopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012508
8 choroidal melanoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012054
9 iris melanoma 59 32 frequent (33%) Frequent (79-30%) HP:0011524
10 ciliary body melanoma 59 32 frequent (33%) Frequent (79-30%) HP:0012055
11 abnormality of refraction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000539
12 vitreous hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0007902
13 inferior lens subluxation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008494
14 zonular cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010920
15 photopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0030786
16 abnormal visual accommodation 59 32 occasional (7.5%) Occasional (29-5%) HP:0030800
17 abnormality of the fundus 59 Very frequent (99-80%)
18 uveal melanoma 32 HP:0007716

MGI Mouse Phenotypes related to Melanoma, Uveal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 BAP1 CDH5 CDKN2A CYSLTR2 GNA11 GNAQ
2 integument MP:0010771 9.56 BAP1 CDH5 CDKN2A CYSLTR2 GNA11 GNAQ
3 pigmentation MP:0001186 9.02 CDKN2A GNA11 GNAQ NRAS TYR

Drugs & Therapeutics for Melanoma, Uveal

Drugs for Melanoma, Uveal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 177)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 2,Phase 3 347396-82-1 459903
2
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
3 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
4 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
8 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Triamcinolone diacetate Phase 4,Phase 2,Phase 3,Not Applicable
10 Triamcinolone hexacetonide Phase 4,Phase 2,Phase 3,Not Applicable
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
12 triamcinolone acetonide Phase 4,Phase 2,Phase 3,Not Applicable
13 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
14 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
16
Melphalan Approved Phase 3,Phase 2 148-82-3 4053 460612
17
Fotemustine Experimental, Investigational Phase 3
18 Liver Extracts Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
19 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
20 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
21 Vaccines Phase 3,Phase 1,Phase 2,Not Applicable
22
Cisplatin Approved Phase 2,Phase 1 15663-27-1 2767 441203 84093
23
Sorafenib Approved, Investigational Phase 2,Phase 1 284461-73-0 216239 406563
24
Nicotinamide Approved, Investigational Phase 2,Phase 1 98-92-0 936
25
Sunitinib Approved, Investigational Phase 2,Phase 1 557795-19-4, 341031-54-7 5329102
26
Bevacizumab Approved, Investigational Phase 2,Not Applicable 216974-75-3
27
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
28
Tamoxifen Approved Phase 2 10540-29-1 2733526
29
Nivolumab Approved Phase 1, Phase 2,Phase 2 946414-94-4
30
Aldesleukin Approved Phase 2,Phase 1 85898-30-2, 110942-02-4
31
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 6055-19-2, 50-18-0 2907
32
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
33
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
34
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
35
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
36
Pasireotide Approved Phase 2 396091-73-9 9941444
37
Everolimus Approved Phase 2 159351-69-6 6442177
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Somatostatin Approved, Investigational Phase 2,Phase 1 51110-01-1, 38916-34-6 53481605
41
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
42
Acyclovir Approved Phase 2 59277-89-3 2022
43
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
45
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
46
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
47
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 38904 498142
48
Ethiodized oil Approved, Investigational Phase 2 8008-53-5
49
Vorinostat Approved, Investigational Phase 2,Early Phase 1 149647-78-9 5311
50
Lenalidomide Approved Phase 2 191732-72-6 216326

Interventional clinical trials:

(show top 50) (show all 146)
# Name Status NCT ID Phase Drugs
1 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
2 TTT Versus TTT and Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Active, not recruiting NCT02379000 Phase 4 Triamcinolone Acetonide
3 Treatment Of Radiation Retinopathy Trial Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
4 Dendritic Cells Plus Autologous Tumor RNA in Uveal Melanoma Recruiting NCT01983748 Phase 3
5 Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3 75mg selumetinib;placebo;Dacarbazine
6 Comparison Between Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Active, not recruiting NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
7 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Recruiting NCT01785316 Phase 3
8 Intravenous or Hepatic Arterial Infusion of Fotemustine in Treating Patients With Unresectable Liver Metastases From Eye Melanoma Terminated NCT00110123 Phase 3 fotemustine;isolated perfusion
9 Vaccine Therapy in Treating Patients With Melanoma of the Eye Terminated NCT00036816 Phase 3
10 Hepatic Arterial Infusion With Melphalan Compared With Standard Therapy in Treating Patients With Unresectable Liver Metastases Due to Melanoma Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
11 Transarterial Radioembolisation in Comparison to Transarterial Chemoembolisation in Uveal Melanoma Liver Metastasis Unknown status NCT02936388 Phase 2
12 A Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
13 A Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma Unknown status NCT01551459 Phase 2 Dacarbazine;Sunitinib
14 Phase II Evaluating Endoresection of the Tumor Scar or Transpupillary Thermotherapy When Endoresection is Not Feasible After Proton Beam Therapy for the Treatment of Large Uveal Melanomas (Endoresection-Laser) Unknown status NCT02874040 Phase 2
15 Temozolomide and Bevacizumab in Treating Patients With Metastatic Melanoma of the Eye Unknown status NCT01217398 Phase 2 temozolomide
16 Sunitinib, Tamoxifen, and Cisplatin in Treating Patients With High-Risk Ocular Melanoma Unknown status NCT00489944 Phase 2 cisplatin;sunitinib malate;tamoxifen citrate
17 Role of Intravitreal Aflibercept Injection for the Treatment of Radiation Maculopathy Unknown status NCT02586727 Phase 2 aflibercept
18 Yttrium90, Ipilimumab, & Nivolumab for Uveal Melanoma With Liver Metastases Recruiting NCT02913417 Phase 1, Phase 2 ipilimumab;nivolumab
19 Adoptive Transfer of Tumor Infiltrating Lymphocytes for Metastatic Uveal Melanoma Recruiting NCT03467516 Phase 2
20 A Phase II Study of BVD-523 in Metastatic Uveal Melanoma Recruiting NCT03417739 Phase 2 BVD-523
21 Trial of Nivolumab in Combination With Ipilimumab in Subjects With Previously Untreated Metastatic Uveal Melanoma Active, not recruiting NCT02626962 Phase 2 ipilimumab;Nivolumab
22 Messenger Ribonucleic Acid (mRNA) Transfected Dendritic Cell Vaccination in High Risk Uveal Melanoma Patients Terminated NCT00929019 Phase 1, Phase 2
23 Crizotinib in High-Risk Uveal Melanoma Following Definitive Therapy Active, not recruiting NCT02223819 Phase 2 Crizotinib
24 Trametinib With or Without GSK2141795 in Treating Patients With Metastatic Uveal Melanoma Completed NCT01979523 Phase 2 Trametinib;Uprosertib
25 A Phase Ib/II Study of AEB071 and MEK162 in Adult Patients With Metastatic Uveal Melanoma Terminated NCT01801358 Phase 1, Phase 2 AEB071;MEK162
26 A Study of the Intra-Patient Escalation Dosing Regimen With IMCgp100 in Patients With Advanced Uveal Melanoma Recruiting NCT02570308 Phase 1, Phase 2 IMCgp100
27 Safety & Activity of Controllable PRAME-TCR Therapy in Previously Treated AML/MDS or Metastatic Uveal Melanoma Recruiting NCT02743611 Phase 1, Phase 2 Rimiducid
28 Nivolumab and Ipilimumab in Treating Patients With Metastatic Uveal Melanoma Active, not recruiting NCT01585194 Phase 2
29 Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Completed NCT01034787 Phase 2 CP-675,206
30 Efficacy Study of Pembrolizumab With Entinostat to Treat Metastatic Melanoma of the Eye Recruiting NCT02697630 Phase 2 Pembrolizumab;Entinostat
31 RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2 RAD001 (Everolimus) and Pasireotide (SOM230) LAR
32 Safety and Efficacy of Marqibo in Metastatic Malignant Uveal Melanoma Completed NCT00506142 Phase 2 Marqibo® (vincristine sulfate liposomes injection)
33 Pembrolizumab in Treating Patients With Advanced Uveal Melanoma Active, not recruiting NCT02359851 Phase 2
34 Dacarbazine and Recombinant Interferon Alfa-2b in Treating Patients With Primary Uveal Melanoma With Genetic Imbalance Active, not recruiting NCT01100528 Phase 2 dacarbazine
35 Safety and Efficacy of IMCgp100 Versus Investigator Choice in Advanced Uveal Melanoma Recruiting NCT03070392 Phase 2 Dacarbazine
36 Glembatumumab Vedotin in Treating Patients With Metastatic or Locally Recurrent Uveal Melanoma Completed NCT02363283 Phase 2 Glembatumumab Vedotin
37 Trial of Radiation and Gene Therapy Before Nivolumab for Metastatic Non-Small Cell Lung Carcinoma and Uveal Melanoma Recruiting NCT02831933 Phase 2 Valacyclovir;nivolumab
38 Dexamethasone Intravitreal Implant for Treatment of Macular Edema After Plaque Radiotherapy of Uveal Melanoma Terminated NCT01471054 Phase 2 Ozurdex;Bevacizumab
39 SIR-Spheres® 90Y Microspheres Treatment of Uveal Melanoma Metastasized to Liver Active, not recruiting NCT01473004 Phase 2
40 Efficacy and Safety Study of GSK1120212, a MEK Inhibitor, in Subjects With Uveal Melanoma Withdrawn NCT01328106 Phase 2 GSK1120212
41 Stereotactic Body Radiation Therapy and Aflibercept in Treating Patients With Uveal Melanoma Not yet recruiting NCT03712904 Phase 2
42 Adjuvant Sunitinib or Valproic Acid in High-Risk Patients With Uveal Melanoma Recruiting NCT02068586 Phase 2 Sunitinib;Valproic Acid
43 Study Multicentre Evaluating the Effectiveness and Toxicity Sorafenib (Nexavar®) in Adult Patients With Uveal Melanoma and Metastatic Dissemination Completed NCT02517736 Phase 2 Sorafenib at a dose of 800 mg / day
44 Genasense, Carboplatin, Paclitaxel (GCP) Combination in Uveal Melanoma Terminated NCT01200342 Phase 2 Genasense;Paclitaxel;Carboplatin
45 Ipilimumab and Nivolumab With Immunoembolization in Treating Participants With Metastatic Uveal Melanoma in the Liver Suspended NCT03472586 Phase 2 Embolization Therapy
46 Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Patients With Metastatic Melanoma of the Eye That Cannot Be Removed By Surgery Completed NCT00738361 Phase 2 nab-paclitaxel
47 Halt Growth of Liver Tumors From Uveal Melanoma With Closure of Liver Artery Following Injection of GM-CSF Completed NCT00661622 Phase 2 GM-CSF
48 Vorinostat in Treating Patients With Metastatic Melanoma of the Eye Terminated NCT01587352 Phase 2 Vorinostat
49 Cixutumumab in Treating Patients With Metastatic Melanoma of the Eye Completed NCT01413191 Phase 2
50 Sorafenib, Carboplatin, and Paclitaxel in Treating Patients With Stage IV Melanoma of the Eye Completed NCT00329641 Phase 2 carboplatin;paclitaxel;sorafenib tosylate

Search NIH Clinical Center for Melanoma, Uveal

Cochrane evidence based reviews: uveal melanoma

Genetic Tests for Melanoma, Uveal

Anatomical Context for Melanoma, Uveal

MalaCards organs/tissues related to Melanoma, Uveal:

41
Liver, Eye, Testes, Retina, Endothelial, T Cells, Lung

Publications for Melanoma, Uveal

Articles related to Melanoma, Uveal:

(show top 50) (show all 1337)
# Title Authors Year
1
Association between inflammatory bowel disease and uveal melanoma: case report of two young adults and a literature review. ( 30455614 )
2019
2
Plaque brachytherapy for posterior uveal melanoma in 2018: improved techniques and expanded indications. ( 29538180 )
2018
3
The Role of Histone Deacetylase Inhibitors in Uveal Melanoma: Current Evidence. ( 29970501 )
2018
4
Unsuspected and misdiagnosed posterior uveal melanoma following enucleation and evisceration in Ottawa-Gatineau. ( 29631828 )
2018
5
Genome-Wide Analysis of Uveal Melanoma Metastasis-Associated LncRNAs and Their Functional Network. ( 29240458 )
2018
6
Long-Term Metastatic Risk after Biopsy of Posterior Uveal Melanoma. ( 29705056 )
2018
7
Punctuated evolution of canonical genomic aberrations in uveal melanoma. ( 29317634 )
2018
8
Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma. ( 28444874 )
2018
9
Rosai-Dorfman disease masquerading as Uveal Melanoma: Case report and review of literature. ( 29913127 )
2018
10
Visual outcome after posterior uveal melanoma episcleral brachytherapy including radiobiological doses. ( 29789761 )
2018
11
Intravitreal bevacizumab for neovascular glaucoma in uveal melanoma treated by proton beam therapy. ( 29116399 )
2018
12
Fisetin induces apoptosis through mitochondrial apoptosis pathway in human uveal melanoma cells. ( 29383865 )
2018
13
Herpes simplex virus type 1 infection promotes the growth of a subpopulation of tumor cells in 3D uveal melanoma cultures. ( 30045986 )
2018
14
An 11-gene-based prognostic signature for uveal melanoma metastasis based on gene expression and DNA methylation profile. ( 30556166 )
2018
15
Selective PKCδ inhibitor B106 elicits uveal melanoma growth inhibitory effects independent of activated PKC isoforms. ( 30525429 )
2018
16
Response to "Selective PKCδ inhibitor B106 elicits uveal melanoma growth inhibitory effects independent of activated PKC isoforms". ( 30525445 )
2018
17
Posterior uveal melanoma in adolescents and children: current perspectives. ( 30464381 )
2018
18
Reflections on a Health Psychology Service for Patients with Uveal Melanoma: The Challenge of Psychological Screening and Intervention When Distress is 'Normal'. ( 30465122 )
2018
19
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. ( 30477459 )
2018
20
Molecular and immunohistochemical analyses of uveal melanoma patient cohort. ( 30480620 )
2018
21
TRPM8 Activation via 3-Iodothyronamine Blunts VEGF-Induced Transactivation of TRPV1 in Human Uveal Melanoma Cells. ( 30483120 )
2018
22
CORRELATION OF GENE EXPRESSION PROFILE STATUS AND AMERICAN JOINT COMMISSION ON CANCER STAGE IN UVEAL MELANOMA. ( 30418387 )
2018
23
Clinical Features, Metastasis, and Survival in Patients Younger Than 21 Years With Posterior Uveal Melanoma. ( 30422230 )
2018
24
Nevus of Ota associated with a primary uveal melanoma and intracranial melanoma metastasis. ( 30372724 )
2018
25
Hepatic abnormalities identified by staging MRI and accuracy of MRI of patients with uveal melanoma. ( 30381389 )
2018
26
Modifications of Callender's Classification of Uveal Melanoma at the Armed Forces Institute of Pathology. ( 30384958 )
2018
27
Transposase mapping identifies the genomic targets of BAP1 in uveal melanoma. ( 30400891 )
2018
28
Effects of ranibizumab and amfenac on the functional abilities and radiosensitivity of uveal melanoma cells. ( 30403264 )
2018
29
The oncolytic virus H101 combined with GNAQ siRNA-mediated knockdown reduces uveal melanoma cell viability. ( 30320917 )
2018
30
Uveal melanoma survival rates after single dose stereotactic radiosurgery. ( 30334446 )
2018
31
Role of epigenetic deregulation in hematogenous dissemination of malignant uveal melanoma. ( 30334454 )
2018
32
Knockdown of thrombospondin 2 inhibits metastasis through modulation of PI3K signaling pathway in uveal melanoma cell line M23. ( 30338785 )
2018
33
Transcription of the Human 5-Hydroxytryptamine Receptor 2B (HTR2B) Gene Is under the Regulatory Influence of the Transcription Factors NFI and RUNX1 in Human Uveal Melanoma. ( 30347896 )
2018
34
Prognostication of metastatic death in uveal melanoma patients: A Markov multi-state model. ( 30278339 )
2018
35
Quality of life: fractionated stereotactic radiotherapy versus enucleation treatment in uveal melanoma patients. ( 30284368 )
2018
36
Complete response to pembrolizumab after initial progress in a patient with metastatic uveal melanoma. ( 30299577 )
2018
37
Extrascleral Tumor Extension Associated with Localized Scleral Melt following Plaque Brachytherapy for Uveal Melanoma: Clinical and Histologic Findings. ( 30320088 )
2018
38
Response to "Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma". ( 30320094 )
2018
39
Conjunctival Dehiscence and Scleral Necrosis following Iodine-125 Plaque Brachytherapy for Uveal Melanoma: A Report of 3 Cases. ( 30320099 )
2018
40
BAP1 Immunostaining in Uveal Melanoma: Potentials and Pitfalls. ( 30320100 )
2018
41
Chromosome 3 is a valid marker for prognostic testing of biopsy material from uveal melanoma later treated by brachytherapy. ( 30265160 )
2018
42
How to MEK the best of uveal melanoma: A systematic review on the efficacy and safety of MEK inhibitors in metastatic or unresectable uveal melanoma. ( 30205280 )
2018
43
Results from phase II trial of HSP90 inhibitor, STA-9090 (ganetespib), in metastatic uveal melanoma. ( 30211813 )
2018
44
A Phase 1 Trial of Oncolytic Adenovirus ICOVIR-5 Administered Intravenously to Cutaneous and Uveal Melanoma Patients. ( 30234393 )
2018
45
Combined Effects of Yttrium-90 Transarterial Radioembolization around Immunotherapy for Hepatic Metastases from Uveal Melanoma: A Preliminary Retrospective Case Series. ( 30174161 )
2018
46
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. ( 30193301 )
2018
47
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. ( 30193333 )
2018
48
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. ( 30193376 )
2018
49
Uveal Melanoma Associated With Myotonic Dystrophy: A Report of 6 Cases. ( 29596556 )
2018
50
Recent advancements in the management of retinoblastoma and uveal melanoma. ( 29755733 )
2018

Variations for Melanoma, Uveal

ClinVar genetic disease variations for Melanoma, Uveal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAQ NM_002072.4(GNAQ): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 GRCh37 Chromosome 9, 80409488: 80409488
2 GNAQ NM_002072.4(GNAQ): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 GRCh38 Chromosome 9, 77794572: 77794572
3 GNAQ NM_002072.4(GNAQ): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 GRCh37 Chromosome 9, 80409488: 80409488
4 GNAQ NM_002072.4(GNAQ): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 GRCh38 Chromosome 9, 77794572: 77794572
5 GNA11 NM_002067.4(GNA11): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 GRCh37 Chromosome 19, 3118942: 3118942
6 GNA11 NM_002067.4(GNA11): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 GRCh38 Chromosome 19, 3118944: 3118944
7 GNA11 NM_002067.4(GNA11): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 GRCh37 Chromosome 19, 3118942: 3118942
8 GNA11 NM_002067.4(GNA11): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 GRCh38 Chromosome 19, 3118944: 3118944
9 GNAQ NM_002072.4(GNAQ): c.625_626delCAinsTT (p.Gln209Leu) indel Likely pathogenic rs1057519853 GRCh37 Chromosome 9, 80409488: 80409489
10 GNAQ NM_002072.4(GNAQ): c.625_626delCAinsTT (p.Gln209Leu) indel Likely pathogenic rs1057519853 GRCh38 Chromosome 9, 77794572: 77794573

Copy number variations for Melanoma, Uveal from CNVD:

7 (show all 33)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13320 1 1 124300000 Copy number Uveal melanoma
2 15978 1 120700000 121100000 Nomal NOTCH2 Uveal melanoma
3 21742 1 16100000 20300000 Nomal NBL1 Uveal melanoma
4 32197 1 34400000 46500000 Nomal MYCBP Uveal melanoma
5 32198 1 34400000 46500000 Nomal PTAFR Uveal melanoma
6 33591 1 46500000 51300000 Nomal MUTYH Uveal melanoma
7 35197 1 60900000 84700000 Nomal RPE65 Uveal melanoma
8 37517 1 9200000 12600000 Nomal MFN2 Uveal melanoma
9 166068 3 1 199501827 Copy number Uveal melanoma
10 168175 3 127700000 131500000 Loss Rho Uveal melanoma
11 170048 3 150400000 153500000 Loss MME Uveal melanoma
12 172555 3 18400000 104400000 Loss CPO Uveal melanoma
13 173444 3 193800000 199501827 Loss OPA1 Uveal melanoma
14 174743 3 32100000 43600000 Loss CTNNB1 Uveal melanoma
15 175394 3 39300000 43600000 Loss MLH1 Uveal melanoma
16 175735 3 43600000 51400000 Loss SEMA3B Uveal melanoma
17 177570 3 58500000 63700000 Loss FHIT Uveal melanoma
18 178910 3 81800000 83700000 Loss ROBO1 Uveal melanoma
19 179180 3 8700000 11500000 Loss FANCD2 Uveal melanoma
20 179181 3 8700000 11500000 Loss VHL Uveal melanoma
21 203641 6 1 170899992 Copy number Uveal melanoma
22 205639 6 130400000 131300000 Nomal CTGF Uveal melanoma
23 207759 6 160900000 164400000 Nomal IGF2R Uveal melanoma
24 209014 6 2300000 4100000 Nomal Uveal melanoma
25 209045 6 23500000 26100000 Nomal DCDC2 Uveal melanoma
26 210240 6 29900000 45200000 Nomal RUNX2 Uveal melanoma
27 212309 6 36800000 40600000 Nomal CDKN1A Uveal melanoma
28 232746 8 119200000 122500000 Gain MYC Uveal melanoma
29 233772 8 127300000 140000000 Gain DDEF1 Uveal melanoma
30 238089 8 29700000 38500000 Nomal NRG1 Uveal melanoma
31 240056 8 45200000 146274826 Copy number Uveal melanoma
32 240078 19 67920024 67921999 Gain GDF-15 Uveal melanoma
33 240624 8 52800000 55600000 Gain RP1 Uveal melanoma

Expression for Melanoma, Uveal

Search GEO for disease gene expression data for Melanoma, Uveal.

Pathways for Melanoma, Uveal

GO Terms for Melanoma, Uveal

Biological processes related to Melanoma, Uveal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 action potential GO:0001508 9.26 GNA11 GNAQ
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNA11 GNAQ
3 phototransduction, visible light GO:0007603 8.96 GNA11 GNAQ
4 entrainment of circadian clock GO:0009649 8.62 GNA11 GNAQ

Molecular functions related to Melanoma, Uveal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA11 GNAQ
2 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
3 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Melanoma, Uveal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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