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MCID: MLN069
MIFTS: 58

Melanoma, Uveal

Categories: Eye diseases, Rare diseases, Cancer diseases, Neuronal diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Melanoma, Uveal

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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:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Eye diseases Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
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
UMLS 73 C0220633
Sources

Summaries for Melanoma, Uveal

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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 GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are S1P3 pathway and MicroRNAs in cancer. The drugs Ranibizumab and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and testes, and related phenotypes are retinal detachment and visual loss

Description from OMIM: 155720
Sources

Related Diseases for Melanoma, Uveal

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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 all 38)
# Related Disease Score Top Affiliating Genes
1 intraocular melanoma 33.2 GNA11 GNAQ
2 melanoma 31.0 CDKN2A MALAT1 MIR193B MIRLET7B NRAS PAUPAR
3 skin melanoma 30.5 BAP1 CDKN2A GNA11 GNAQ NRAS TYR
4 posterior uveal melanoma 12.3
5 malignant iris melanoma 12.2
6 necrotic uveal melanoma 12.2
7 malignant choroid melanoma 12.2
8 melanoma, uveal 1 12.2
9 melanoma, uveal 2 12.2
10 mixed cell uveal melanoma 12.1
11 ocular melanoma 11.5
12 choroid necrotic melanoma 11.3
13 tumor predisposition syndrome 11.3
14 choroid mixed cell melanoma 11.2
15 phakomatosis cesioflammea 11.1 GNA11 GNAQ
16 malignant conjunctival melanoma 11.0 GNA11 GNAQ NRAS
17 conjunctival cancer 11.0 GNA11 GNAQ NRAS
18 mucosal melanoma 10.9 GNA11 GNAQ NRAS
19 malignant peritoneal mesothelioma 10.9 BAP1 CDKN2A
20 sensory system cancer 10.9 BAP1 CDKN2A GNA11 GNAQ
21 ovarian serous carcinoma 10.9 MIR143 MIRLET7B
22 ocular cancer 10.9 BAP1 CDKN2A GNA11 GNAQ
23 nervous system cancer 10.8 CDKN2A GNA11 GNAQ
24 melanomatosis 10.8 CDKN2A GNA11 GNAQ NRAS
25 meningeal melanomatosis 10.8 CDKN2A GNA11 GNAQ NRAS
26 meningeal melanocytoma 10.8 CDKN2A GNA11 GNAQ NRAS
27 melanoma, cutaneous malignant 1 10.8 BAP1 CDKN2A NRAS
28 vulva squamous cell carcinoma 10.8 CDKN2A MALAT1
29 integumentary system cancer 10.7 CDKN2A GNAQ NRAS TYR
30 cell type cancer 10.7 CDKN2A NRAS TYR
31 malignant spindle cell melanoma 10.7 NRAS TYR
32 central nervous system melanocytic neoplasm 10.7 CDKN2A GNA11 GNAQ NRAS TYR
33 myeloma, multiple 10.7 CDKN2A MALAT1 MIRLET7B NRAS
34 acral lentiginous melanoma 10.6 CDKN2A NRAS
35 cervical cancer 10.6 CDKN2A HOXA11-AS MALAT1 MIR143 MIRLET7B
36 leukemia, acute myeloid 10.5 MALAT1 MIRLET7B NRAS SF3B1
37 malignant glioma 10.3 HOXA11-AS MALAT1
38 hepatocellular carcinoma 9.9 CDKN2A HOXA11-AS MALAT1 MIR143 MIRLET7B NRAS

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



Diseases related to Melanoma, Uveal
Sources

Symptoms & Phenotypes for Melanoma, Uveal

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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 intraocular 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 GNAQ NRAS TYR BAP1 CDH5 CDKN2A
3 pigmentation MP:0001186 9.02 CDKN2A GNA11 GNAQ NRAS TYR
Sources

Drugs & Therapeutics for Melanoma, Uveal

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

(show top 50) (show all 173)
# 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 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
6 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
7 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 triamcinolone acetonide Phase 4,Phase 2,Phase 3,Not Applicable
12 Triamcinolone diacetate Phase 4,Phase 2,Phase 3,Not Applicable
13 Triamcinolone hexacetonide Phase 4,Phase 2,Phase 3,Not Applicable
14
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
15
Melphalan Approved Phase 3,Phase 2 148-82-3 4053 460612
16
Fotemustine Experimental, Investigational Phase 3
17 Alkylating Agents Phase 3,Phase 2,Phase 1
18 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
19 Liver Extracts Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Vaccines Phase 3,Phase 2,Phase 1,Not Applicable
21
Sorafenib Approved, Investigational Phase 2,Phase 1 284461-73-0 216239 406563
22
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
23
Bevacizumab Approved, Investigational Phase 2,Not Applicable 216974-75-3
24
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
25
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
26
Tamoxifen Approved Phase 2 10540-29-1 2733526
27
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
28
Everolimus Approved Phase 2 159351-69-6 6442177
29
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
30
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
31
Somatostatin Approved, Investigational Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
32
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
33
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
34
Ethiodized oil Approved, Investigational Phase 2 8008-53-5
35
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
36
Aldesleukin Approved Phase 2,Phase 1 85898-30-2, 110942-02-4
37
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
38
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
39
Mesna Approved, Investigational Phase 2 3375-50-6 598
40
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
41
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
42
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
43
Aluminum sulfate Approved Phase 2 10043-01-3
44
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
45
Vorinostat Approved, Investigational Phase 2,Early Phase 1 149647-78-9 5311
46
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
47
Pancrelipase Approved, Investigational Phase 2 53608-75-6
48
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
49
nivolumab Approved Phase 1, Phase 2,Phase 2 946414-94-4
50
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4

Interventional clinical trials:

(show top 50) (show all 138)
# 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 Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3 75mg selumetinib;placebo;Dacarbazine
5 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
6 Dendritic Cells Plus Autologous Tumor RNA in Uveal Melanoma Recruiting NCT01983748 Phase 3
7 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Recruiting NCT01785316 Phase 3
8 Comparison Between Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Active, not recruiting NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
9 Intravenous or Hepatic Arterial Infusion of Fotemustine in Treating Patients With Unresectable Liver Metastases From Eye Melanoma Terminated NCT00110123 Phase 3 fotemustine;isolated perfusion
10 Vaccine Therapy in Treating Patients With Melanoma of the Eye Terminated NCT00036816 Phase 3
11 A Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
12 A Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma Unknown status NCT01551459 Phase 2 Dacarbazine;Sunitinib
13 Temozolomide and Bevacizumab in Treating Patients With Metastatic Melanoma of the Eye Unknown status NCT01217398 Phase 2 temozolomide
14 Sunitinib, Tamoxifen, and Cisplatin in Treating Patients With High-Risk Ocular Melanoma Unknown status NCT00489944 Phase 2 cisplatin;sunitinib malate;tamoxifen citrate
15 Role of Intravitreal Aflibercept Injection for the Treatment of Radiation Maculopathy Unknown status NCT02586727 Phase 2 aflibercept
16 Trametinib With or Without GSK2141795 in Treating Patients With Metastatic Uveal Melanoma Completed NCT01979523 Phase 2 Trametinib;Uprosertib
17 Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Completed NCT01034787 Phase 2 CP-675,206
18 RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2 RAD001 (Everolimus) and Pasireotide (SOM230) LAR
19 Safety and Efficacy of Marqibo in Metastatic Malignant Uveal Melanoma Completed NCT00506142 Phase 2 Marqibo® (vincristine sulfate liposomes injection)
20 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
21 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
22 Halt Growth of Liver Tumors From Uveal Melanoma With Closure of Liver Artery Following Injection of GM-CSF Completed NCT00661622 Phase 2 GM-CSF
23 Cixutumumab in Treating Patients With Metastatic Melanoma of the Eye Completed NCT01413191 Phase 2
24 Sorafenib, Carboplatin, and Paclitaxel in Treating Patients With Stage IV Melanoma of the Eye Completed NCT00329641 Phase 2 carboplatin;paclitaxel;sorafenib tosylate
25 Temozolomide or Selumetinib in Treating Patients With Metastatic Melanoma of the Eye Completed NCT01143402 Phase 2 Dacarbazine;Selumetinib;Temozolomide
26 Vaccine Therapy With or Without Interleukin-12 in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00003339 Phase 2
27 Immunotherapy Using Tumor Infiltrating Lymphocytes for Patients With Metastatic Ocular Melanoma Completed NCT01814046 Phase 2 Aldesleukin;Cyclophosphamide;Fludarabine
28 Monoclonal Antibody Therapy and Vaccine Therapy in Treating Patients With Resected Stage III or Stage IV Melanoma Completed NCT00084656 Phase 2
29 Vaccine Therapy in Treating Patients With Metastatic Melanoma Completed NCT00334776 Phase 2
30 PEG-Interferon Alfa-2b and Thalidomide in Treating Patients With Recurrent or Metastatic Melanoma Completed NCT00238329 Phase 2 thalidomide
31 Vaccine Therapy in Treating Patients With Metastatic Melanoma of the Eye Completed NCT00020475 Phase 2 gp100 antigen;interleukin-2;MART-1 antigen;Montanide ISA-51
32 Temozolomide and Interferon Alfa in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00027742 Phase 2 temozolomide
33 Vaccine Therapy in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed By Surgery Completed NCT00089206 Phase 2
34 Vaccine Therapy in Treating Patients With Stage IIIB, Stage IIIC, or Stage IV Melanoma Completed NCT00089219 Phase 1, Phase 2
35 Temozolomide, Thalidomide, and Lomustine in Treating Patients With Unresectable Stage III or Stage IV Melanoma Completed NCT00072345 Phase 2 lomustine;temozolomide;thalidomide
36 Pyrazoloacridine in Treating Patients With Metastatic Skin or Eye Melanoma Completed NCT00003802 Phase 2 pyrazoloacridine
37 Vaccine Therapy and Monoclonal Antibody Therapy in Treating Patients With Stage IV Melanoma Completed NCT00032045 Phase 2
38 Vaccine Therapy and Interleukin-12 With Either Alum or Sargramostim After Surgery in Treating Patients With Melanoma Completed NCT00031733 Phase 2 alum adjuvant
39 Temozolomide and Thalidomide in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00005815 Phase 1, Phase 2 temozolomide;thalidomide
40 Monoclonal Antibody Therapy and Interleukin-2 in Treating Patients With Metastatic Melanoma Completed NCT00058279 Phase 1, Phase 2
41 Melanoma Vaccine With Peptides and Leuprolide Completed NCT00254397 Phase 2 Leuprolide
42 Cabozantinib-S-Malate Compared With Temozolomide or Dacarbazine in Treating Patients With Metastatic Melanoma of the Eye That Cannot Be Removed by Surgery Completed NCT01835145 Phase 2 Cabozantinib S-malate;Dacarbazine;Temozolomide
43 Epacadostat and Vaccine Therapy in Treating Patients With Stage III-IV Melanoma Completed NCT01961115 Phase 2 Epacadostat
44 Vaccine Therapy in Treating Patients With Stage IIC-IV Melanoma Completed NCT00085189 Phase 2 Montanide ISA 51 VG;agatolimod sodium
45 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
46 AZD2171 in Treating Patients With Recurrent or Stage IV Melanoma Completed NCT00243061 Phase 2 cediranib maleate
47 VEGF Trap in Treating Patients With Recurrent Stage III or Stage IV Melanoma That Cannot Be Removed by Surgery Completed NCT00450255 Phase 2
48 Bortezomib, Paclitaxel, and Carboplatin in Treating Patients With Metastatic Melanoma Completed NCT00288041 Phase 2 carboplatin;paclitaxel;bortezomib
49 Interferon Beta in Treating Patients With Metastatic Cutaneous Melanoma or Ocular Melanoma Completed NCT00085306 Phase 2
50 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2 isolated perfusion;melphalan

Search NIH Clinical Center for Melanoma, Uveal

Cochrane evidence based reviews: uveal melanoma

Sources

Genetic Tests for Melanoma, Uveal

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Sources

Anatomical Context for Melanoma, Uveal

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MalaCards organs/tissues related to Melanoma, Uveal:

41
Eye, Liver, Testes, Endothelial, Bone, T Cells, Skin
Sources

Publications for Melanoma, Uveal

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Articles related to Melanoma, Uveal:

(show top 50) (show all 764)
# Title Authors Year
1
Plaque brachytherapy for posterior uveal melanoma in 2018: improved techniques and expanded indications. ( 29538180 )
2018
2
The Role of Histone Deacetylase Inhibitors in Uveal Melanoma: Current Evidence. ( 29970501 )
2018
3
Unsuspected and misdiagnosed posterior uveal melanoma following enucleation and evisceration in Ottawa-Gatineau. ( 29631828 )
2018
4
Genome-Wide Analysis of Uveal Melanoma Metastasis-Associated LncRNAs and Their Functional Network. ( 29240458 )
2018
5
Long-Term Metastatic Risk after Biopsy of Posterior Uveal Melanoma. ( 29705056 )
2018
6
Punctuated evolution of canonical genomic aberrations in uveal melanoma. ( 29317634 )
2018
7
Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma. ( 28444874 )
2018
8
Rosai-Dorfman disease masquerading as Uveal Melanoma: Case report and review of literature. ( 29913127 )
2018
9
Visual outcome after posterior uveal melanoma episcleral brachytherapy including radiobiological doses. ( 29789761 )
2018
10
Intravitreal bevacizumab for neovascular glaucoma in uveal melanoma treated by proton beam therapy. ( 29116399 )
2018
11
Fisetin induces apoptosis through mitochondrial apoptosis pathway in human uveal melanoma cells. ( 29383865 )
2018
12
Gene expression profiling in uveal melanoma: technical reliability and correlation of molecular class with pathologic characteristics. ( 28778171 )
2017
13
Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis. ( 28645290 )
2017
14
Uveal Melanoma Cell Seeding after Transretinal Tumor Biopsy? ( 29071267 )
2017
15
Grb2-associated binder 2 expression and its roles in uveal melanoma invasion. ( 28791340 )
2017
16
Immunotherapy of Uveal Melanoma: Vaccination Against Cancer. ( 27987156 )
2017
17
The Long Non-Coding RNA RHPN1-AS1 Promotes Uveal Melanoma Progression. ( 28124977 )
2017
18
Genetic evolution of uveal melanoma guides the development of an inflammatory microenvironment. ( 28391358 )
2017
19
Evaluation of<i>p53</i>gene expression and prognosis characteristics in uveal melanoma cases. ( 28744147 )
2017
20
Uveal Melanoma Nuclear BRCA1-Associated Protein-1 Immunoreactivity Is an Indicator of Metastasis. ( 28823399 )
2017
21
Uveal Melanoma: GNAQ and GNA11 Mutations in a Greek Population. ( 28982892 )
2017
22
LncRNA HOXA11-AS Exerts Oncogenic Functions by Repressing p21 and miR-124 in Uveal Melanoma. ( 28749709 )
2017
23
CANT1 lncRNA Triggers Efficient Therapeutic Efficacy by Correcting Aberrant lncing Cascade in Malignant Uveal Melanoma. ( 28330694 )
2017
24
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus. ( 28781888 )
2017
25
Anti-PD1 treatment in metastatic uveal melanoma in the Netherlands. ( 27911126 )
2017
26
SOX10 Expression as Well as BRAF and GNAQ/11 Mutations Distinguish Pigmented Ciliary Epithelium Neoplasms From Uveal Melanomas. ( 29059311 )
2017
27
Endoresection of large uveal melanomas: clinical results in a consecutive series of 200 cases. ( 27121095 )
2017
28
Long non-coding RNA FTH1P3 facilitates uveal melanoma cell growth and invasion through miR-224-5p. ( 29095823 )
2017
29
Ocular oncology: advances in retinoblastoma, uveal melanoma and conjunctival melanoma. ( 28069617 )
2017
30
Primary bilateral uveal melanoma: a population-based study and systematic review. ( 29219254 )
2017
31
INTRAVITREAL DEXAMETHASONE (OZURDEX) IMPLANT FOR RADIATION MACULOPATHY SECONDARY TO STEREOTACTIC RADIOTHERAPY FOR POSTERIOR UVEAL MELANOMA. ( 28489707 )
2017
32
Prognostic Implications of the Largest Basal Tumor Diameter vs the TNM Staging System in Association With the Gene Expression Profile for Uveal Melanoma. ( 28056132 )
2017
33
Melanogenesis in uveal melanoma cells: Effect of argan oil. ( 28849034 )
2017
34
Genetic and Epigenetic Insights into Uveal Melanoma. ( 28902406 )
2017
35
A multireferral centre retrospective cohort analysis on the experience in treatment of metastatic uveal melanoma and utilization of sequential liver-directed treatment and immunotherapy. ( 28230715 )
2017
36
Uveal Melanoma: Identifying Immunological and Chemotherapeutic Targets to Treat Metastases. ( 28399339 )
2017
37
Predictors of radio-induced visual impairment after radiosurgery for uveal melanoma. ( 28903963 )
2017
38
PRAME as a Potential Target for Immunotherapy in Metastatic Uveal Melanoma. ( 28448663 )
2017
39
Prognostic Implications of the Largest Basal Tumor Diameter vs the TNM Staging System in Association With the Gene Expression Profile for Uveal Melanoma-Reply. ( 28056125 )
2017
40
Surgery vs. radiotherapy in patients with uveal melanoma : Analysis of the SEER database using propensity score matching and weighting. ( 28879443 )
2017
41
Multiple Pigmented Conjunctival Lesions following Intravitreal Injections in a Patient with Uveal Melanoma. ( 28868281 )
2017
42
Lentiviral-mediated overexpression of KCTD12 inhibits the proliferation of human uveal melanoma OCM-1 cells. ( 28000887 )
2017
43
Local Failure After Episcleral Brachytherapy for Posterior Uveal Melanoma: Patterns, Risk Factors, and Management. ( 28163118 )
2017
44
Uveal Melanoma Regression after Brachytherapy: Relationship with Chromosome 3 Monosomy Status. ( 28868276 )
2017
45
Germline BAP1 alterations in familial uveal melanoma. ( 27718540 )
2017
46
High expression of lncRNA PVT1 independently predicts poor overall survival in patients with primary uveal melanoma. ( 29244840 )
2017
47
Local Failure After Episcleral Brachytherapy for Posterior Uveal Melanoma: Patterns, Risk Factors, and Management. ( 28756956 )
2017
48
Uveal Melanoma with Histopathologic Intratumoral Heterogeneity Associated with Gene Expression Profile Discordance. ( 28868288 )
2017
49
Pristimerin effectively inhibits the malignant phenotypes of uveal melanoma cells by targeting NFa89I_B pathway. ( 28766683 )
2017
50
The first description of the complete natural history of uveal melanoma by two Scottish surgeons, Allan Burns and James Wardrop. ( 28834323 )
2017
Sources

Variations for Melanoma, Uveal

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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
Sources

Expression for Melanoma, Uveal

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

Pathways for Melanoma, Uveal

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Pathways related to Melanoma, Uveal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
S1P3 pathway 1
Show member pathways
 11.6 CDH5 GNA11 GNAQ
2
MicroRNAs in cancer 37
11.5 CDKN2A MIR143 MIR193B MIRLET7B NRAS
3
Gap junction 37
11.28 GNA11 GNAQ NRAS
4
Long-term depression 37
10.91 GNA11 GNAQ NRAS
5
Transcription_Transcription factor Tubby signaling pathways 22
10.85 GNA11 GNAQ NRAS
6
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
10.71 GNAQ NRAS
7
Free fatty acids regulate insulin secretion 66
Show member pathways
 10.53 GNA11 GNAQ
Sources

GO Terms for Melanoma, Uveal

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

# Name GO ID Score Top Affiliating Genes
1 action potential GO:0001508 9.46 GNA11 GNAQ
2 G-protein coupled acetylcholine receptor signaling pathway GO:0007213 9.43 GNA11 GNAQ
3 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.43 CYSLTR2 GNA11 GNAQ
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.4 GNA11 GNAQ
5 developmental pigmentation GO:0048066 9.37 GNA11 GNAQ
6 phototransduction, visible light GO:0007603 9.32 GNA11 GNAQ
7 positive regulation of angiogenesis GO:0045766 9.26 CDH5 CYSLTR2 MIR143 MIRLET7B
8 entrainment of circadian clock GO:0009649 9.16 GNA11 GNAQ
9 regulation of melanocyte differentiation GO:0045634 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

Sources for Melanoma, Uveal

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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