MCID: OCL022
MIFTS: 54

Ocular Melanoma

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

Aliases & Classifications for Ocular Melanoma

MalaCards integrated aliases for Ocular Melanoma:

Name: Ocular Melanoma 12 75 53 55 15 17
Intraocular Melanoma 12 53 29 6
Malignant Melanoma of Eye 72
Melanoma of the Uvea 53
Melanoma of Eye 12
Uveal Melanoma 53
Eye Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1752
UMLS 72 C0558356

Summaries for Ocular Melanoma

NIH Rare Diseases : 53 Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract. The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases (90%) of intraocular melanoma develop in the choroid, called choroidal melanoma; the ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms. Treatment depends on the site of origin (choroid, ciliary body, or iris), size and location of the tumor, the age of the individual, and other factors.

MalaCards based summary : Ocular Melanoma, also known as intraocular melanoma, is related to malignant spindle cell melanoma and melanoma. An important gene associated with Ocular Melanoma is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and fMLP Pathway. The drugs Triamcinolone and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and retina, and related phenotypes are hematopoietic system and endocrine/exocrine gland

Disease Ontology : 12 An ocular cancer that has material basis in melanocytes and is located in the eye.

Wikipedia : 75 Uveal melanoma is a cancer (melanoma) of the eye involving the iris, ciliary body, or choroid... more...

Related Diseases for Ocular Melanoma

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

(show top 50) (show all 336)
# Related Disease Score Top Affiliating Genes
1 malignant spindle cell melanoma 30.9 NRAS KIT
2 melanoma 30.8 NRAS MC1R MAGEA3 MAGEA1 CDKN2A
3 malignant peritoneal mesothelioma 30.3 CDKN2A BAP1
4 dysplastic nevus syndrome 30.3 CDKN2A BRCA2
5 malignant conjunctival melanoma 29.8 NRAS GNAQ GNA11
6 uveal disease 29.3 GNAQ GNA11 BAP1
7 glioblastoma 29.2 VEGFA NRAS CDKN2A BRCA2
8 leukemia, acute myeloid 29.2 NRAS KIT IL2 ABL1
9 gastrointestinal stromal tumor 28.8 VEGFA KIT CDKN2A ABL1
10 melanoma, uveal 28.6 NRAS MC1R MAGEA1 GNAQ GNA11 CDKN2A
11 mucosal melanoma 28.2 NRAS KIT IL2 GNAQ GNA11
12 ocular cancer 28.2 IL2 GNAQ GNA11 CDKN2A BRCA2
13 melanoma, cutaneous malignant 1 28.0 NRAS MC1R KIT GNAQ GNA11 CDKN2A
14 necrotic uveal melanoma 12.6
15 mixed cell uveal melanoma 12.5
16 spindle cell intraocular melanoma 12.4
17 tumor predisposition syndrome 11.9
18 bap1 tumor predisposition syndrome 11.8
19 uveal epithelioid cell melanoma 11.5
20 iris spindle cell melanoma 11.4
21 maxillary sinus adenoid cystic carcinoma 10.6 KIT IL2
22 skin melanoma 10.5
23 severe combined immunodeficiency 10.5
24 macular retinal edema 10.5
25 ovarian melanoma 10.4 NRAS KIT
26 conventional fibrosarcoma 10.4 NRAS KIT
27 adenoid basal cell carcinoma 10.4 KIT CDKN2A
28 hydrops, lactic acidosis, and sideroblastic anemia 10.3
29 lymphoepithelioma-like thymic carcinoma 10.3 KIT CDKN2A
30 breast cancer 10.3
31 chudley-mccullough syndrome 10.3
32 infiltrating angiolipoma 10.3 VEGFA CDKN2A
33 autoimmune disease 10.2
34 neurofibromatosis, type iv, of riccardi 10.2
35 keratopathy 10.2
36 myotonic dystrophy 10.2
37 48,xyyy 10.2
38 myotonia atrophica 10.2
39 colorectal cancer 10.2
40 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
41 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
42 lung cancer susceptibility 3 10.2
43 herpes simplex 10.2
44 neuropathy 10.2
45 acral lentiginous melanoma 10.2 NRAS KIT CDKN2A
46 balanitis xerotica obliterans 10.1 VEGFA CDKN2A
47 renal cell carcinoma, nonpapillary 10.1
48 melanoma, uveal 2 10.1
49 anxiety 10.1
50 microvascular complications of diabetes 5 10.1

Graphical network of the top 20 diseases related to Ocular Melanoma:



Diseases related to Ocular Melanoma

Symptoms & Phenotypes for Ocular Melanoma

MGI Mouse Phenotypes related to Ocular Melanoma:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.35 ABL1 BAP1 BRCA2 CDKN2A CIITA GNA11
2 endocrine/exocrine gland MP:0005379 10.34 ABL1 BAP1 BRCA2 CDKN2A CIITA GNA11
3 immune system MP:0005387 10.32 ABL1 BAP1 BRCA2 CDKN2A CIITA GNA11
4 behavior/neurological MP:0005386 10.3 ABL1 BRCA2 CDKN2A GNA11 GNAQ IL2
5 cardiovascular system MP:0005385 10.29 ABL1 BAP1 CDKN2A GNA11 GNAQ IL2
6 growth/size/body region MP:0005378 10.29 ABL1 BAP1 BRCA2 CDKN2A GNA11 GNAQ
7 homeostasis/metabolism MP:0005376 10.26 ABL1 BAP1 BRCA2 CDKN2A CIITA GNA11
8 digestive/alimentary MP:0005381 10.23 ABL1 BAP1 BRCA2 CDKN2A IL2 KIT
9 integument MP:0010771 10.15 BAP1 BRCA2 CDKN2A GNA11 GNAQ KIT
10 craniofacial MP:0005382 10.13 ABL1 GNA11 GNAQ KIT MC1R NRAS
11 embryo MP:0005380 10.11 ABL1 BAP1 BRCA2 CDKN2A KIT NRAS
12 limbs/digits/tail MP:0005371 10.02 BRCA2 GNA11 GNAQ KIT MC1R NRAS
13 neoplasm MP:0002006 10.01 BAP1 BRCA2 CDKN2A IL2 KIT MC1R
14 liver/biliary system MP:0005370 10 ABL1 CDKN2A GNA11 IL2 KIT NRAS
15 muscle MP:0005369 9.98 ABL1 BAP1 CDKN2A GNA11 GNAQ KIT
16 normal MP:0002873 9.97 ABL1 BRCA2 CIITA GNA11 GNAQ KIT
17 no phenotypic analysis MP:0003012 9.91 BAP1 CDKN2A IL2 KIT MC1R NRAS
18 pigmentation MP:0001186 9.8 CDKN2A GNA11 GNAQ KIT MC1R NRAS
19 respiratory system MP:0005388 9.76 ABL1 BAP1 CDKN2A GNA11 GNAQ IL2
20 skeleton MP:0005390 9.65 ABL1 BRCA2 CDKN2A CIITA GNA11 GNAQ
21 vision/eye MP:0005391 9.17 ABL1 CDKN2A IL2 KIT NRAS SERPINF1

Drugs & Therapeutics for Ocular Melanoma

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

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3 triamcinolone acetonide Phase 4
4 Triamcinolone hexacetonide Phase 4
5 Triamcinolone diacetate Phase 4
6 glucocorticoids Phase 4
7 Anti-Inflammatory Agents Phase 4
8
Melphalan Approved Phase 3 148-82-3 460612 4053
9
Bevacizumab Approved, Investigational Phase 3 216974-75-3
10
Fotemustine Investigational Phase 3 92118-27-9
11 Immunologic Factors Phase 3
12 Alkylating Agents Phase 3
13 Immunosuppressive Agents Phase 3
14 Antineoplastic Agents, Alkylating Phase 3
15 Angiogenesis Inhibitors Phase 3
16 Angiogenesis Modulating Agents Phase 3
17 Mitogens Phase 3
18 Endothelial Growth Factors Phase 3
19 Liver Extracts Phase 3
20 Vaccines Phase 3
21
Sodium citrate Approved, Investigational Phase 2 68-04-2
22
Tamoxifen Approved Phase 2 10540-29-1 2733526
23
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
24
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
25 Ethiodized oil Approved, Investigational Phase 2 8008-53-5
26
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
27
Xylometazoline Approved, Investigational Phase 2 526-36-3 5709
28
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
29
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
30
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
31
Pasireotide Approved Phase 2 396091-73-9 9941444
32
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
33
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
34
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
35
Aluminum sulfate Approved Phase 2 10043-01-3
36
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
37
Pancrelipase Approved, Investigational Phase 2 53608-75-6
38
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
39
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
40
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
41
Acyclovir Approved Phase 2 59277-89-3 2022
42
Olaparib Approved Phase 2 763113-22-0 23725625
43
Iodine Approved, Investigational Phase 2 7553-56-2 807
44
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
45
Acetaminophen Approved Phase 2 103-90-2 1983
46
Pembrolizumab Approved Phase 2 1374853-91-4
47
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
48
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
49
Promethazine Approved, Investigational Phase 2 60-87-7 4927
50
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100

Interventional clinical trials:

(show top 50) (show all 153)
# Name Status NCT ID Phase Drugs
1 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
2 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
3 Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma. Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
4 Collaborative Ocular Melanoma Study (COMS) Unknown status NCT00000124 Phase 3
5 A Randomised, Double-Blind Study to Assess the Efficacy of Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Combination With Dacarbazine Compared With Placebo in Combination With Dacarbazine as First Systemic Therapy in Patients With Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3 75mg selumetinib;placebo;Dacarbazine
6 A Random-Assignment Study of Hepatic Arterial Infusion of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) (Delcath System) Versus Best Alternative Care for Ocular and Cutaneous Melanoma Metastatic to the Liver Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
7 A NON-COMMERCIAL, MULTICENTER, RANDOMIZED, TWO-ARMED, OPEN-LABEL PHASE III STUDY TO EVALUATE THE ADJUVANT VACCINATION WITH TUMOR RNA-LOADED AUTOLOGOUS DENDRITIC CELLS VERSUS OBSERVATION OF PATIENTS WITH RESECTED MONOSOMY 3 UVEAL MELANOMA Recruiting NCT01983748 Phase 3
8 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Recruiting NCT01785316 Phase 3
9 A Single-arm, Multi-Center, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Melphalan/HDS Treatment in Patients With Hepatic-Dominant Ocular Melanoma Recruiting NCT02678572 Phase 3
10 Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Active, not recruiting NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
11 Prevention of Neovascular Glaucoma by Intravitreal Injections of Anti-Vascular Endothelial Growth Factor in Patients Treated With Proton Therapy for a Large Choroidal Melanoma Not yet recruiting NCT03172299 Phase 3 Aflibercept Injection;False injection
12 Intravenous Versus Intra-Arterial Fotemustine Chemotherapy in Patients With Liver Metastases From Uveal Melanoma: A Randomized Phase III Study of the EORTC Melanoma Group Terminated NCT00110123 Phase 3 fotemustine;isolated perfusion
13 Randomized Phase III Study Of Adjuvant Immunization With The NA17.A2 And Melanoma Differentiation Peptites In HLA-A2 Patients With Primary Ocular Melanoma At High Risk Of Relapse Terminated NCT00036816 Phase 3
14 A Phase II Pilot Trial of Sutent, Tamoxifen, and Cisplatin in Patients With High-Risk Ocular Melanoma Unknown status NCT00489944 Phase 2 cisplatin;sunitinib malate;tamoxifen citrate
15 Phase II Single-Center Study of Bevacizumab in Combination With Temozolomide in Patients With First-Line Metastatic Uveal Melanoma Unknown status NCT01217398 Phase 2 temozolomide
16 A Randomised Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma Unknown status NCT01551459 Phase 2 Dacarbazine;Sunitinib
17 Randomized Phase II Study to Compare a Combination Therapy With Gemcitabine and Treosulfan Versus a Monotherapy as First-Line Chemotherapy for Patients With Metastatic Ocular Melanoma Unknown status NCT00168870 Phase 2 Gemcitabine;Treosulfan
18 A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma Unknown status NCT02936388 Phase 2
19 A Randomized Discontinuation, Blinded, Placebo-Controlled Phase II Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
20 A Phase II Trial of Pyrazoloacridine (NSC 366140, IND 36325) in Metastatic Cutaneous and Ocular Melanoma Completed NCT00003802 Phase 2 pyrazoloacridine
21 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
22 A Phase 2 Study Of Weekly Infusion Nab-paclitaxel (Paclitaxel Protein-bound Particles for Injectable Suspension) In Patients With Unresectable And Metastatic Uveal Melanoma Completed NCT00738361 Phase 2 nab-paclitaxel
23 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
24 A Phase 2 Study of CDX-011 (Glembatumumab Vedotin) for Metastatic Uveal Melanoma Completed NCT02363283 Phase 2 Glembatumumab Vedotin
25 Phase II Study of IMC-A12 in Metastatic Uveal Melanoma Completed NCT01413191 Phase 2
26 Adjuvant Therapy for Patients With Primary Uveal Melanoma With Genetic Imbalance Completed NCT01100528 Phase 2 dacarbazine
27 Immuno-embolization of Hepatic Artery With Granulocyte-macrophage Colony Stimulating Factor (GM-CSF) Completed NCT00661622 Phase 2 GM-CSF
28 A Phase 2 Study of Marqibo in Patients With Metastatic Uveal Melanoma Completed NCT00506142 Phase 2 Marqibo® (vincristine sulfate liposomes injection)
29 A Phase II Study of the HSP Inhibitor STA-9090 in Metastatic Ocular Melanoma Completed NCT01200238 Phase 2 STA-9090
30 Randomized Phase II Trial of Temozolomide Versus Hyd-Sulfate AZD6244 [NSC 748727] in Patients With Metastatic Uveal Melanoma Completed NCT01143402 Phase 2 Dacarbazine;Selumetinib;Temozolomide
31 A Randomized Two-Arm Phase II Study of Trametinib Alone and in Combination With GSK2141795 in Patients With Advanced Uveal Melanoma Completed NCT01979523 Phase 2 Trametinib;Uprosertib
32 Open Label Phase II Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Completed NCT01034787 Phase 2 CP-675,206
33 A Phase II Study of RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2 RAD001 (Everolimus) and Pasireotide (SOM230) LAR
34 THE IPI - Multibasket Trial in Advanced Melanoma: Prospective Clinical Phase II Multibasket Study in Melanoma Patients With Advanced Disease (DeCOG MM-PAL11) Completed NCT01355120 Phase 2 Ipilimumab
35 Phase II Trial of BAY 43-9006 (Sorafenib; NSC-724772) in Combination With Carboplatin and Paclitaxel in Patients With Metastatic Uveal Melanoma Completed NCT00329641 Phase 2 carboplatin;paclitaxel;sorafenib tosylate
36 A Phase II Study of Isolated Hepatic Perfusion (IHP) With Melphalan Followed by Temozolomide for Subjects With Unresectable Hepatic Metastases From Ocular Melanoma Completed NCT00062933 Phase 2
37 Vaccination With Synthetic Melanoma Peptides Administered With GM-CSF-in-Adjuvant in Patients With Advanced Melanoma Completed NCT00089206 Phase 2
38 A Randomized Phase II Study of Oral Lenalidomide (Revlimid [TM]), an Antiangiogenic and Immunomodulatory Agent, in Subjects With Stage IV Ocular Melanoma Completed NCT00109005 Phase 2 Revlimid
39 An Extended Dosing, Two-phase Study of MDX-010 as Monotherapy or in Combination With Tyrosinase/gp100/MART-1 Peptides Emulsified With Montanide ISA 51 VG in the Treatment of Subjects With Resected Stage III or Stage IV Melanoma Completed NCT00084656 Phase 2
40 Phase II Study of Pegylated Interferon and Thalidomide in Pretreated Metastatic Malignant Melanoma Completed NCT00238329 Phase 2 thalidomide
41 An Open-label Study Of MDX-010 In Combination With gp100 Peptides Emulsified With Montanide ISA 51 In The Treatment Of Patients With Stage IV Melanoma Completed NCT00032045 Phase 2
42 Vaccination With Multiple Synthetic Melanoma Peptides Recognized by Helper T-Cells in Patients With Advanced Melanoma Completed NCT00089219 Phase 1, Phase 2
43 A Phase II Study of Temozolomide, Thalidomide, and Lomustine in the Treatment of Advanced Melanoma Completed NCT00072345 Phase 2 lomustine;temozolomide;thalidomide
44 A Phase II Trial of an Intradermally Administered MART-1gp100/Tyrosinase Peptide-Pulsed Dendritic Cell Vaccine Matured With a Cytokine Cocktail for Patients With Metastatic Melanoma Completed NCT00334776 Phase 2
45 A Randomized Phase II Trial of a Vaccine Combining Tyrosinase/gp100 Peptides Emulsified With Montanide ISA 51 With and Without Interleukin-12 for Patients With Resected Stages III and IV Melanoma Completed NCT00003339 Phase 2
46 A Phase II Randomized Trial of a Vaccine Combining Tyrosinase/GP100/MART-1 Peptides Emulsified With Montanide ISA 51 With Interleukin-12 With Alum or GM-CSF for Patients With Resected Stages IIB/C, III and IV Melanoma Completed NCT00031733 Phase 2 alum adjuvant
47 A Phase I/II Study of Temozolamide and Thalidomide in the Treatment of Advanced Melanoma Completed NCT00005815 Phase 1, Phase 2 temozolomide;thalidomide
48 Study of the Modulatory Activity of an LHRH-Agonist (Leuprolide) on Melanoma Peptide Vaccines as Adjuvant Therapy in Melanoma Patients Completed NCT00254397 Phase 2 Leuprolide
49 MDX-CTLA4 Combined With IL-2 for Patients With Metastatic Melanoma Completed NCT00058279 Phase 1, Phase 2
50 A Phase II Study Of Hepatic Arterial Infusion Of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) For Unresectable Primary And Metastatic Cancers Of The Liver Completed NCT00096083 Phase 2 isolated perfusion;melphalan

Search NIH Clinical Center for Ocular Melanoma

Genetic Tests for Ocular Melanoma

Genetic tests related to Ocular Melanoma:

# Genetic test Affiliating Genes
1 Intraocular Melanoma 29

Anatomical Context for Ocular Melanoma

MalaCards organs/tissues related to Ocular Melanoma:

41
Eye, Liver, Retina, T Cells, Bone, Endothelial, Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Ocular Melanoma:

19
Eye

Publications for Ocular Melanoma

Articles related to Ocular Melanoma:

(show top 50) (show all 986)
# Title Authors PMID Year
1
Cancer-related diseases of the eye: the role of calcium and calcium-binding proteins. 9 38
15336963 2004
2
Epigenetic silencing of the CIITA gene and posttranscriptional regulation of class II MHC genes in ocular melanoma cells. 9 38
15326139 2004
3
Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. 9 38
12883368 2003
4
BRCA2 mutations in a population-based series of patients with ocular melanoma. 9 38
12385017 2002
5
Expression of MAGE genes in ocular melanoma cell lines. 9 38
9220316 1997
6
Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients. 38
31425584 2019
7
Neoadjuvant intravitreal ranibizumab treatment in high-risk ocular melanoma patients: a two-stage single-centre phase II single-arm study. 38
31425478 2019
8
Comprehensive Characterization of the Human Endogenous Retrovirus HERV-K(HML-6) Group: Overview of Structure, Phylogeny, and Contribution to the Human Genome. 38
31167914 2019
9
Delivered dose changes in COMS plaque-based ocular brachytherapy arising from vitrectomy with silicone oil replacement. 38
31272841 2019
10
Improvement of dose distribution in ocular brachytherapy with 125I seeds 20-mm COMS plaque followed to loading of choroidal tumor by gold nanoparticles. 38
31169211 2019
11
BRCA1-associated protein (BAP1)-inactivated melanocytic tumors. 38
31233225 2019
12
Clinical spectrum, treatment and outcomes of uveal melanoma in a tertiary centre. 38
31197380 2019
13
Corneal Substructure Dosimetry Predicts Corneal Toxicity in Patients With Uveal Melanoma Treated With Proton Beam Therapy. 38
30763658 2019
14
RELATIONSHIP OF CLINICAL FEATURES AND BASELINE TUMOR SIZE WITH GENE EXPRESSION PROFILE STATUS IN UVEAL MELANOMA: A Multi-institutional Study. 38
29578940 2019
15
Vitamin D receptors (VDR), hydroxylases CYP27B1 and CYP24A1 and retinoid-related orphan receptors (ROR) level in human uveal tract and ocular melanoma with different melanization levels. 38
31235702 2019
16
An improved treatment planning and quality assurance process for Collaborative Ocular Melanoma Study eye plaque brachytherapy. 38
31235445 2019
17
Y90 Clinical Data Update: Cholangiocarcinoma, Neuroendocrine Tumor, Melanoma, and Breast Cancer Metastatic Disease. 38
31079715 2019
18
Safety of Percutaneous Hepatic Perfusion with Melphalan in Patients with Unresectable Liver Metastases from Ocular Melanoma Using the Delcath Systems' Second-Generation Hemofiltration System: A Prospective Non-randomized Phase II Trial. 38
30767147 2019
19
Meta-Analysis in Metastatic Uveal Melanoma to Determine Progression-Free and Overall Survival Benchmarks: an International Rare Cancers Initiative (IRCI) Ocular Melanoma study. 38
31150059 2019
20
Dosimetric comparison of circular Eye Physics and Collaborative Ocular Melanoma Study plaques to treat uveal melanoma. 38
30797699 2019
21
Natural killer cells and pigment epithelial-derived factor control the infiltrative and nodular growth of hepatic metastases in an Orthotopic murine model of ocular melanoma. 38
31117965 2019
22
Small choroidal melanoma: detection with multimodal imaging and management with plaque radiotherapy or AU-011 nanoparticle therapy. 38
30844944 2019
23
Epidemiological evidence of carcinogenicity of sunbed use and of efficacy of preventive measures. 38
30811691 2019
24
Skin cancer and welding. 38
30280417 2019
25
CHOROIDAL NEVUS TRANSFORMATION INTO MELANOMA PER MILLIMETER INCREMENT IN THICKNESS USING MULTIMODAL IMAGING IN 2355 CASES: The 2019 Wendell L. Hughes Lecture. 38
30883534 2019
26
Prognostic factors for survival in patients with mucosal and ocular melanoma treated with ipilimumab: Turkish Oncology Group study. 38
30924738 2019
27
An Update on Mucosal Melanoma: Future Directions. 38
31032785 2019
28
A comparison of the shielding effectiveness of silicone oil vitreous substitutes when used with Palladium-103 and Iodine-125 eye plaques. 38
30554429 2019
29
Avelumab in patients with previously treated metastatic melanoma: phase 1b results from the JAVELIN Solid Tumor trial. 38
30651126 2019
30
Can CT imaging improve targeting accuracy in clip-based proton therapy of ocular melanoma? 38
30566923 2019
31
Ocular Melanoma Presenting as Masquerade Syndrome. 38
31410350 2019
32
Oil, you're kidding me! 38
31355124 2019
33
Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis. 38
30558566 2018
34
Choroidal melanoma masquerading as orbital cellulitis. 38
30567222 2018
35
CHOROIDAL NEVUS IMAGING FEATURES IN 3,806 CASES AND RISK FACTORS FOR TRANSFORMATION INTO MELANOMA IN 2,355 CASES: The 2020 Taylor R. Smith and Victor T. Curtin Lecture. 38
30608349 2018
36
A practical approach to estimating optic disc dose and macula dose without treatment planning in ocular brachytherapy using 125I COMS plaques. 38
30424782 2018
37
Efficacy and safety data for checkpoint inhibitors in advanced melanoma under real-life conditions: A monocentric study conducted in Nice from 2010 to 2016. 38
30098818 2018
38
Outcomes of choroidal melanomas treated with eye physics plaques: A 25-year review. 38
30082188 2018
39
Headache with Aura: A case report of ocular melanoma. 38
30135025 2018
40
Is Collaborative Ocular Melanoma Study (COMS) still relevant? 38
30249817 2018
41
[Intraocular melanoma in a 10-year-old female llama (Lama glama)]. 38
30340243 2018
42
Association of Uveal Melanoma Metastatic Rate With Stochastic Mutation Rate and Type of Mutation. 38
30073324 2018
43
An insight into the molecular genetics of a uveal melanoma patient cohort. 38
30008023 2018
44
Mortality after deferral of treatment or no treatment for choroidal melanoma. 38
30249822 2018
45
GNAS, GNAQ, and GNA11 alterations in patients with diverse cancers. 38
30204251 2018
46
The Patient's Experience of Ocular Melanoma in the US: A Survey of the Ocular Melanoma Foundation. 38
30320098 2018
47
Ocular Melanoma Recurrence Presenting as Cholestatic Jaundice due to Periampullary Area Metastases. 38
30134646 2018
48
Dosimetric comparison between realistic ocular model and other models for COMS plaque brachytherapy with 103Pd, 131Cs, and 125I radioisotopes. 38
29882078 2018
49
Millimeter spatial resolution in vivo sodium MRI of the human eye at 7 T using a dedicated radiofrequency transceiver array. 38
29327365 2018
50
Melanin Bleaching With Warm Hydrogen Peroxide and Integrated Immunohistochemical Analysis: An Automated Platform. 38
29466906 2018

Variations for Ocular Melanoma

ClinVar genetic disease variations for Ocular Melanoma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNA11 NM_002067.5(GNA11): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 19:3118942-3118942 19:3118944-3118944
2 GNA11 NM_002067.5(GNA11): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs1057519742 19:3118942-3118942 19:3118944-3118944
3 GNAQ NM_002072.5(GNAQ): c.626A> C (p.Gln209Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 9:80409488-80409488 9:77794572-77794572
4 GNAQ NM_002072.5(GNAQ): c.626A> T (p.Gln209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913492 9:80409488-80409488 9:77794572-77794572
5 GNAQ NM_002072.5(GNAQ): c.625_626delinsTT (p.Gln209Leu) indel Likely pathogenic rs1057519853 9:80409488-80409489 9:77794572-77794573

Cosmic variations for Ocular Melanoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6498619 BAP1 eye,uveal tract,malignant melanoma,ring c.306C>G p.N102K 3:52408027-52408027 24

Expression for Ocular Melanoma

Search GEO for disease gene expression data for Ocular Melanoma.

Pathways for Ocular Melanoma

Pathways related to Ocular Melanoma according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 VEGFA NRAS IL2 GNAQ GNA11 ABL1
2
Show member pathways
12.83 VEGFA NRAS GNAQ GNA11 ABL1
3
Show member pathways
12.79 VEGFA NRAS GNAQ GNA11 CDKN2A
4
Show member pathways
12.38 VEGFA NRAS KIT CDKN2A BRCA2 ABL1
5
Show member pathways
12.36 VEGFA NRAS KIT GNAQ ABL1
6 12.33 MAGEA3 KIT IL2 CIITA
7 12.27 VEGFA NRAS CDKN2A ABL1
8 12 VEGFA NRAS KIT IL2 GNAQ GNA11
9
Show member pathways
11.78 VEGFA GNAQ GNA11
10 11.77 NRAS CDKN2A ABL1
11 11.69 NRAS IL2 ABL1
12
Show member pathways
11.65 NRAS GNAQ GNA11 ABL1
13 11.6 IL2 GNAQ GNA11
14 11.55 NRAS GNAQ GNA11
15 11.49 NRAS IL2 GNAQ GNA11
16 11.44 VEGFA NRAS CDKN2A
17 11.38 GNAQ GNA11 ABL1
18 11.32 NRAS GNAQ GNA11
19
Show member pathways
10.95 CDKN2A ABL1
20 10.95 CDKN2A ABL1
21 10.89 NRAS GNAQ
22
Show member pathways
10.73 GNAQ GNA11
23 10.67 NRAS GNAQ GNA11 ABL1

GO Terms for Ocular Melanoma

Biological processes related to Ocular Melanoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell proliferation GO:0001938 9.5 VEGFA PDCD6 NRAS
2 action potential GO:0001508 9.49 GNAQ GNA11
3 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.48 GNAQ GNA11
4 developmental pigmentation GO:0048066 9.46 KIT GNA11
5 somatic stem cell division GO:0048103 9.43 KIT CDKN2A
6 phototransduction, visible light GO:0007603 9.4 GNAQ GNA11
7 negative regulation of ubiquitin-protein transferase activity GO:0051444 9.37 CDKN2A ABL1
8 positive regulation of protein kinase C signaling GO:0090037 9.26 VEGFA MC1R
9 entrainment of circadian clock GO:0009649 9.16 GNAQ GNA11
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.13 VEGFA KIT IL2
11 positive regulation of endothelial cell migration GO:0010595 8.8 VEGFA PDCD6 ABL1

Molecular functions related to Ocular Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 VEGFA SERPINF1 PDCD6 NRAS MC1R MAGEA3
2 GTP binding GO:0005525 9.62 NRAS GNAQ GNA11 CIITA
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.26 GNAQ GNA11
4 guanyl nucleotide binding GO:0019001 9.16 GNAQ GNA11
5 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Ocular Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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