Melanoma, Uveal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MLN069 MIFTS: 62	Melanoma, Uveal Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Melanoma, Uveal

MalaCards integrated aliases for Melanoma, Uveal:

Name: Melanoma, Uveal ⁵⁷

Uveal Melanoma ¹¹ ⁵⁸ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ¹⁶ ⁷¹ ⁷⁵

Choroidal Melanoma ⁵⁸ ⁵ ¹⁶

Malignant Melanoma of Choroid ⁷¹

Malignant Melanoma of Iris ⁷¹

Melanoma of Uvea ¹¹

Iris Melanoma ⁵⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Prevelance:

Uveal Melanoma: 1-9/1000000 (Europe) 1-9/100000 (Europe, Europe) ⁵⁸

Age Of Onset:

Uveal Melanoma: Adult ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Malignant neoplasms of eye, brain and other parts of central nervous system

Malignant neoplasm of eye and adnexa

Malignant neoplasm: Choroid

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:6039

OMIM® ⁵⁷ 155720

MeSH ⁴³ C536494

NCIt ⁴⁹ C7712

MESH via Orphanet ⁴⁴ C536494

ICD10 via Orphanet ³² C69.3

UMLS via Orphanet ⁷² C0220633 C0346373 C0346388

Orphanet ⁵⁸ ORPHA39044

MedGen ⁴⁰ C0220633

SNOMED-CT via HPO ⁶⁹ 112222000 255012009 255015006 more

EFO ¹⁶ EFO_0009093 EFO_1000616

UMLS ⁷¹ C0220633 C0346373 C0346388

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Summaries for Melanoma, Uveal

Orphanet: ⁵⁸ Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

MalaCards based summary: Melanoma, Uveal, also known as uveal melanoma, is related to ocular melanoma and melanoma. An important gene associated with Melanoma, Uveal is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are ADORA2B mediated anti-inflammatory cytokines production and Development Angiotensin activation of ERK. The drugs Triamcinolone and Hormones have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are visual loss and choroidal melanoma

Disease Ontology: ¹¹ A uveal cancer that has material basis in uvea pigment cells.

Wikipedia: ⁷⁵ Uveal melanoma is a type of eye cancer in the uvea of the eye. It is traditionally classed as... more...

More information from OMIM: 155720

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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 526)

#	Related Disease	Score	Top Affiliating Genes
1	ocular melanoma	33.8	TYR SF3B1 PLCB4 NRAS MLANA MITF
2	melanoma	33.6	TYR SF3B1 PAUPAR NRAS MLANA MITF
3	posterior uveal melanoma	33.3	PLCB4 GNAQ GNA11 BAP1
4	mixed cell uveal melanoma	33.2	GNAQ GNA11 BAP1
5	uveal disease	32.7	TYR SF3B1 PLCB4 NRAS MITF MIRLET7B
6	nevus of ota	32.6	BRAF BAP1
7	skin melanoma	32.6	TYR SF3B1 NRAS MLANA MITF GNAQ
8	ocular cancer	32.0	MLANA MIR143 GNAQ GNA11
9	malignant choroid melanoma	31.6	MLANA GNAQ GNA11
10	melanoma, cutaneous malignant 1	31.4	TYR NRAS MLANA MITF GNAQ GNA11
11	skin carcinoma	31.4	TYR NRAS MLANA MITF
12	malignant conjunctival melanoma	31.3	PLCB4 NRAS MLANA GNAQ GNA11 CYSLTR2
13	malignant spindle cell melanoma	31.3	TYR NRAS MLANA MITF GNAQ GNA11
14	choroid cancer	31.2	MLANA GNAQ GNA11 BAP1
15	eye disease	31.2	TYR NRAS MITF MIRLET7B MIR143 GNAQ
16	vitiligo-associated multiple autoimmune disease susceptibility 1	31.1	TYR MLANA MITF
17	epithelioid cell melanoma	31.1	TYR PLCB4 MLANA MITF GNAQ GNA11
18	mucosal melanoma	31.1	TYR NRAS MLANA MITF GNAQ GNA11
19	malignant ciliary body melanoma	30.9	TYR GNA11
20	renal cell carcinoma, nonpapillary	30.8	SF3B1 NRAS MITF MIR143 MALAT1 BRAF
21	weber syndrome	30.7	GNAQ GNA11
22	conjunctival cancer	30.7	PLCB4 NRAS MLANA GNAQ GNA11 CYSLTR2
23	amelanotic melanoma	30.7	TYR NRAS MLANA MITF
24	nodular malignant melanoma	30.7	TYR NRAS MLANA MITF GNAQ GNA11
25	melanoma in congenital melanocytic nevus	30.6	TYR NRAS MLANA MITF GNAQ BRAF
26	nervous system disease	30.6	TYR MITF MIRLET7B MIR652 MIR193B MIR143
27	skin benign neoplasm	30.6	TYR MLANA BRAF
28	melanoma, cutaneous malignant 8	30.6	TYR MITF
29	neurilemmoma	30.6	TYR MLANA MITF
30	rapidly involuting congenital hemangioma	30.5	GNAQ GNA11
31	myeloma, multiple	30.5	NRAS MIRLET7B MALAT1 BRAF BAP1
32	neurofibroma	30.4	TYR MLANA MITF
33	non-langerhans-cell histiocytosis	30.3	NRAS BRAF
34	necrotic uveal melanoma	11.6
35	melanoma, uveal 1	11.5
36	melanoma, uveal 2	11.5
37	bap1 tumor predisposition syndrome	11.4
38	tumor predisposition syndrome 1	11.3
39	uveal epithelioid cell melanoma	11.3
40	tumor predisposition syndrome 2	11.2
41	retinal detachment	10.8
42	neovascular glaucoma	10.8
43	factor vii deficiency	10.8
44	central nervous system melanocytic neoplasm	10.6	TYR PLCB4 NRAS MLANA GNAQ GNA11
45	retinoblastoma	10.6
46	malignant leptomeningeal tumor	10.6	SF3B1 NRAS MLANA MITF GNAQ GNA11
47	meningeal melanoma	10.6	SF3B1 NRAS MLANA MITF GNAQ GNA11
48	acral lentiginous melanoma	10.6	TYR NRAS MLANA MITF GNAQ GNA11
49	meningeal melanomatosis	10.6	TYR NRAS MLANA GNAQ GNA11 CYSLTR2
50	spinal cord melanoma	10.6	TYR NRAS MLANA MITF GNAQ GNA11

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

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Symptoms & Phenotypes for Melanoma, Uveal

Human phenotypes related to Melanoma, Uveal:

⁵⁸ ³⁰ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	visual loss ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000572
2	choroidal melanoma ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012054
3	retinal detachment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000541
4	iris melanoma ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011524
5	ciliary body melanoma ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012055
6	vitreous hemorrhage ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007902
7	abnormality of refraction ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000539
8	mydriasis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011499
9	metamorphopsia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012508
10	ocular hypertension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007906
11	inferior lens subluxation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008494
12	zonular cataract ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010920
13	photopsia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030786
14	abnormal visual accommodation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030800
15	inflammatory abnormality of the eye ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0100533
16	ocular pain ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0200026
17	abnormal fundus morphology ⁵⁸		Very frequent (99-80%)
18	uveal melanoma ³⁰			HP:0007716

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Melanoma, Uveal:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	10.02	BRAF GNA11 GNAQ MALAT1 MIR193B MITF
2	pigmentation	MP:0001186	9.95	BRAF GNA11 GNAQ MITF MLANA NRAS
3	no phenotypic analysis	MP:0003012	9.87	BAP1 HOXA11-AS MALAT1 MITF MLANA NRAS
4	limbs/digits/tail	MP:0005371	9.8	BRAF CYSLTR2 GNA11 GNAQ MITF NRAS
5	hearing/vestibular/ear	MP:0005377	9.7	BRAF GNA11 GNAQ MITF NUMB PLCB4
6	skeleton	MP:0005390	9.61	BRAF CYSLTR2 GNA11 GNAQ MITF NRAS
7	integument	MP:0010771	9.32	BAP1 BRAF CYSLTR2 GNA11 GNAQ MIR193B

Sources

Drugs & Therapeutics for Melanoma, Uveal

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

(show top 50) (show all 140)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Hormones

Phase 4

Hormone Antagonists

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Triamcinolone hexacetonide

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone Acetonide

Phase 4

6436

Sargramostim

Approved, Investigational

Phase 3

123774-72-1

Ranibizumab

Approved

Phase 3

347396-82-1

Aflibercept

Approved

Phase 3

862111-32-8

124490314

Melatonin

Approved, Nutraceutical, Vet_approved

Phase 3

73-31-4

896

Molgramostim

Investigational

Phase 3

99283-10-0

Fotemustine

Investigational

Phase 3

92118-27-9

104799

Monatide (IMS 3015)

Phase 3

Freund's Adjuvant

Phase 3

Antioxidants

Phase 3

Protective Agents

Phase 3

Vaccines

Phase 3

Mitogens

Phase 3

Angiogenesis Inhibitors

Phase 3

Endothelial Growth Factors

Phase 3

Liver Extracts

Phase 3

Tramadol

Approved, Investigational

Phase 1, Phase 2

27203-92-5

33741 5523

Ibuprofen

Approved

Phase 1, Phase 2

15687-27-1

3672

Temozolomide

Approved, Investigational

Phase 2

85622-93-1

5394

Vorinostat

Approved, Investigational

Phase 2

149647-78-9

5311

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

Tremelimumab

Approved, Investigational

Phase 2

745013-59-6

Sorafenib

Approved, Investigational

Phase 2

284461-73-0

216239

Everolimus

Approved

Phase 2

159351-69-6

70789204 6442177

Pasireotide

Approved

Phase 2

396091-73-9

56841596 9941444

Bortezomib

Approved, Investigational

Phase 2

179324-69-7

387447 93860

Carmustine

Approved, Investigational

Phase 2

154-93-8

2578

Ethiodized oil

Approved, Investigational

Phase 2

8008-53-5

Lenvatinib

Approved, Investigational

Phase 2

417716-92-8

9823820

Belinostat

Approved, Investigational

Phase 2

414864-00-9, 866323-14-0

53437714 6918638

Azacitidine

Approved, Investigational

Phase 1, Phase 2

320-67-2

9444

Dacarbazine

Approved, Investigational

Phase 2

4342-03-4

2942 5351166

Entrectinib

Approved, Investigational

Phase 1, Phase 2

1108743-60-7

25141092

Valproic acid

Approved, Investigational

Phase 2

99-66-1

3121

Sunitinib

Approved, Investigational

Phase 2

557795-19-4

5329102

Crizotinib

Approved, Investigational

Phase 2

877399-52-5

11626560

Niraparib

Approved, Investigational

Phase 2

1038915-60-4

24958200

Olaparib

Approved

Phase 2

763113-22-0

23725625

Pembrolizumab

Approved

Phase 2

1374853-91-4

254741536

Paclitaxel

Approved, Vet_approved

Phase 2

33069-62-4

36314

Aldesleukin

Approved

Phase 2

110942-02-4

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 2

1177-87-3

3680

Interventional clinical trials:

(show top 50) (show all 167)

#	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	A Randomized, Placebo-Controlled Phase III Trial of Yeast Derived GM-CSF Versus Peptide Vaccination Versus GM-CSF Plus Peptide Vaccination Versus Placebo in Patients With "No Evidence of Disease" After Complete Surgical Resection of "Locally Advanced" and/or Stage IV Melanoma	Completed	NCT01989572	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	Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma	Completed	NCT02843386	Phase 3	Adjuvant chemotherapy by Fotemustin
7	Ranibizumab as Adjuvant Therapy for the Treatment of Choroidal Melanoma	Completed	NCT00680225	Phase 3	Ranibizumab injection and TTT - ICG based
8	Adjuvant Melatonin for Uveal Melanoma: A Randomized Open Phase III Study	Recruiting	NCT05502900	Phase 3	Melatonin
9	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	Active, not recruiting	NCT01983748	Phase 3
10	The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases	Active, not recruiting	NCT01785316	Phase 3
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	Phase II Study of Nivolumab in Combination With Ipilimumab for Uveal Melanoma	Unknown status	NCT01585194	Phase 2
14	A Phase 1/2 Dose-Finding Study to Evaluate the Safety, Feasibility, and Activity of BPX-701, a Controllable PRAME T-Cell Receptor Therapy, in HLA-A2+ Subjects With AML, Previously Treated MDS, or Metastatic Uveal Melanoma	Unknown status	NCT02743611	Phase 1, Phase 2	Rimiducid
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 Randomized Discontinuation, Blinded, Placebo-Controlled Phase II Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma	Unknown status	NCT01377025	Phase 2	Placebo;Sorafenib
17	An Open-Label, Single Institution, Phase II Study Using Radioactive Yttrium90 Microsphere (SIR-Sphere®) in Uveal Melanoma Patients With Hepatic Metastasis	Unknown status	NCT01473004	Phase 2
18	Post-Operative Pain Relief Following Insertion of Radioactive Plaque for Choroidal Melanoma: Randomised Control Trial of Tramadol Vs Ibuprofen: A Pilot Study	Unknown status	NCT00111046	Phase 1, Phase 2	Ibuprofen;Tramadol
19	Randomized Phase II Study Comparing the MET Inhibitor Cabozantinib to Temozolomide/Dacarbazine in Ocular Melanoma	Completed	NCT01835145	Phase 2	Cabozantinib S-malate;Dacarbazine;Temozolomide
20	A Phase II Pilot Trial of an Indoleamine 2,3, Dioxygenase-1 (IDO1) Inhibitor (INCB024360) Plus a Multipeptide Melanoma Vaccine (MELITAC 12.1) in Patients With Advanced Melanoma	Completed	NCT01961115	Phase 2	Epacadostat
21	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
22	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
23	A Phase 2 Study of CDX-011 (Glembatumumab Vedotin) for Metastatic Uveal Melanoma	Completed	NCT02363283	Phase 2	Glembatumumab Vedotin
24	Phase II Multicenter, Non Randomized, Open Label Trial of Nivolumab in Combination With Ipilimumab in Subjects With Previously Untreated Metastatic Uveal Melanoma	Completed	NCT02626962	Phase 2	ipilimumab;Nivolumab
25	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
26	A Phase 2 Study of Marqibo in Patients With Metastatic Uveal Melanoma	Completed	NCT00506142	Phase 2	Marqibo® (vincristine sulfate liposomes injection)
27	Open Label Phase II Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma	Completed	NCT01034787	Phase 2	CP-675,206
28	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
29	Adjuvant Therapy for Patients With Primary Uveal Melanoma With Genetic Imbalance	Completed	NCT01100528	Phase 2	dacarbazine
30	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
31	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
32	A Randomised Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma	Completed	NCT01551459	Phase 2	Dacarbazine;Sunitinib
33	Phase II Study of IMC-A12 in Metastatic Uveal Melanoma	Completed	NCT01413191	Phase 2
34	Immuno-embolization of Hepatic Artery With Granulocyte-macrophage Colony Stimulating Factor (GM-CSF)	Completed	NCT00661622	Phase 2	GM-CSF
35	A Phase 1B/2 Open-Label, Ascending Single and Repeat Dose Clinical Trial Designed to Evaluate the Safety and Efficacy of Light-activated AU-011 for the Treatment of Subjects With Small Primary Choroidal Melanoma	Completed	NCT03052127	Phase 1, Phase 2	Light-activated AU-011
36	A Phase II Study of Vorinostat in Patients With Advanced Melanoma	Completed	NCT00121225	Phase 2	vorinostat
37	Randomized Phase II Study of AB (Nab-Paclitaxel [Abraxane?], Bevacizumab) Versus Ipilimumab for Therapy of Unresectable Stage IV Metastatic Malignant Melanoma	Completed	NCT02158520	Phase 2	Nab-paclitaxel
38	Phase 2 Study to Evaluate the Efficacy of High Dose Ranibizumab as Adjuvant in the Treatment of Choroidal Melanoma	Completed	NCT01251978	Phase 2	Ranibizumab 2 mg;0.5 mg Ranibizumab
39	Phase II Open-Label Study of Weekly Taxoprexin (DHA-paclitaxel) Injection as First Line Treatment of Patients With Metastatic Non-choroidal Melanoma	Completed	NCT00249262	Phase 2	Taxoprexin
40	A Phase 2 Study Evaluating the Efficacy of VEGF Trap in Patients With Recurrent Inoperable Stage III or Stage IV Melanoma	Completed	NCT00450255	Phase 2
41	A Randomized Phase II Continuation Booster Trial After A Vaccine Combining Tyrosinase/GP100/Mart-1 Peptides Emulsified With Montanide ISA 51 and ISA 51 VG With Or Without GM-CSF For Patients With Resected Stages IIB/C, III And IV Melanoma	Completed	NCT00089063	Phase 2	Montanide ISA 51 VG
42	A Phase II Study of AZD2171 in Previously Untreated Patients With Metastatic or Recurrent Malignant Melanoma	Completed	NCT00243061	Phase 2	cediranib maleate
43	A Phase II Trial of PS-341 in Combination With Paclitaxel and Carboplatin for the Treatment of Metastatic Melanoma	Completed	NCT00288041	Phase 2	carboplatin;paclitaxel;bortezomib
44	A PHASE II TRIAL OF A VACCINE COMBINING MULTIPLE CLASS I PEPTIDES WITH MONTANIDE ISA 51 OR ISA 51 VG AND CpG ADJUVANT 7909 FOR PATIENTS WITH RESECTED STAGES IIC/III AND IV MELANOMA	Completed	NCT00085189	Phase 2	Montanide ISA 51 VG;agatolimod sodium
45	Phase II, Open-Label Study of Preliminary Efficacy of Sitravatinib in Combination With Tislelizumab in Patients With Metastatic Uveal Melanoma With Liver Metastases.	Recruiting	NCT05542342	Phase 2	Tislelizumab;Sitravatinib Malate
46	Chemoembolization of Uveal Melanoma Hepatic Metastases Using 300mg of BCNU Dissolved in Lipiodol® Followed by Gelfoam® Embolization	Recruiting	NCT04728633	Phase 2	Carmustine;Ethiodized Oil
47	A Phase II Trial of Defactinib (VS-6063) Combined With VS-6766 (CH5126766) in Patients With Metastatic Uveal Melanoma	Recruiting	NCT04720417	Phase 2	Defactinib Hydrochloride;Raf/MEK Inhibitor VS-6766
48	Phase1b/2 Study Combining Hepatic Percutaneous Perfusion With Ipilimumab Plus Nivolumab in Advanced Uveal Melanoma	Recruiting	NCT04283890	Phase 1, Phase 2	Ipilimumab and nivolumab;Melphalan chemosaturation via percutaneous hepatic perfusion
49	A Phase II Trial of Olaparib in Combination With Pembrolizumab for Advanced Uveal Melanoma	Recruiting	NCT05524935	Phase 2	Pembrolizumab;Olaparib
50	A Phase 2 Study of Nivolumab + BMS-986016 (Relatlimab) in Patients With Metastatic Uveal Melanoma	Recruiting	NCT04552223	Phase 2	Nivolumab;Relatlimab

Search NIH Clinical Center for Melanoma, Uveal

Cochrane evidence based reviews: uveal melanoma

Sources

Genetic Tests for Melanoma, Uveal

Genetic tests related to Melanoma, Uveal:

#	Genetic test	Affiliating Genes
1	Uveal Melanoma ²⁸

Sources

Anatomical Context for Melanoma, Uveal

Organs/tissues related to Melanoma, Uveal:

MalaCards : Eye, Liver, Brain, Endothelial, T Cells, Lung, Breast

Sources

Publications for Melanoma, Uveal

Articles related to Melanoma, Uveal:

(show top 50) (show all 6628)

#	Title	Authors	PMID	Year
1	Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi. ⁵³ ⁶² ⁵⁷	Smith JH...Rubinstein WS	17207529	2007
2	Melanocortin 1 receptor is expressed by uveal malignant melanoma and can be considered a new target for diagnosis and immunotherapy. ⁵³ ⁶² ⁵⁷	Lopez MN...Salazar-Onfray F	17325166	2007
3	Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. ⁵³ ⁶² ⁵⁷	Hearle N...Houlston RS	12556369	2003
4	Insulin-like growth factor-1 receptor in uveal melanoma: a predictor for metastatic disease and a potential therapeutic target. ⁵³ ⁶² ⁵⁷	All-Ericsson C...Larsson O	11773005	2002
5	Angiostatin produced by certain primary uveal melanoma cell lines impedes the development of liver metastases. ⁵³ ⁶² ⁵⁷	Apte RS...Alizadeh H	11735791	2001
6	Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. ⁶² ⁵	Chen X...Bastian BC	24141786	2014
7	Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. ⁶² ⁵⁷	Martin M...Zeschnigk M	23793026	2013
8	Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. ⁶² ⁵⁷	Harbour JW...Bowcock AM	23313955	2013
9	What hope for the future? GNAQ and uveal melanoma. ⁶² ⁵⁷	Sisley K...Cross NA	21378004	2011
10	Therapeutic implications of the emerging molecular biology of uveal melanoma. ⁶² ⁵	Patel M...Carvajal RD	21444680	2011
11	Serum vascular endothelial growth factor (VEGF) levels correlate with number and location of micrometastases in a murine model of uveal melanoma. ⁶² ⁵⁷	Crosby MB...Grossniklaus HE	20819828	2011
12	Frequent mutation of BAP1 in metastasizing uveal melanomas. ⁶² ⁵⁷	Harbour JW...Bowcock AM	21051595	2010
13	Mutations in GNA11 in uveal melanoma. ⁶² ⁵⁷	Van Raamsdonk CD...Bastian BC	21083380	2010
14	Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. ⁶² ⁵⁷	Van Raamsdonk CD...Bastian BC	19078957	2009
15	Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. ⁶² ⁵⁷	Maat W...Van der Velden PA	18172070	2008
16	Osteopontin as a serologic marker for metastatic uveal melanoma: results of a pilot study. ⁶² ⁵⁷	Reiniger IW...Schaller UC	17386288	2007
17	The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma: IV. Ten-year mortality findings and prognostic factors. COMS report number 24. ⁶² ⁵⁷	Hawkins BS...Collaborative Ocular Melanoma Study Group	15629284	2004
18	Geographic disparities in diagnostic screening for metastatic uveal melanoma. ⁶² ⁵⁷	Gombos DS...O'Brien JM	15582082	2004
19	Noninvasive in vivo detection of prognostic indicators for high-risk uveal melanoma: ultrasound parameter imaging. ⁶² ⁵⁷	Coleman DJ...Folberg R	15019336	2004
20	Liver function tests in metastatic uveal melanoma. ⁶² ⁵⁷	Kaiserman I...Pe'er J	14962411	2004
21	Histopathology of eyes enucleated after endoresection of choroidal melanoma. ⁶² ⁵⁷	Hadden PW...Damato BE	14711728	2004
22	Microcirculation and tumor-infiltrating macrophages in choroidal and ciliary body melanoma and corresponding metastases. ⁶² ⁵⁷	Toivonen P...Kivela T	14691146	2004
23	Depsipeptide (FR901228) inhibits proliferation and induces apoptosis in primary and metastatic human uveal melanoma cell lines. ⁶² ⁵⁷	Klisovic DD...Marcucci G	12766035	2003
24	Nucleolar diameter and microvascular factors as independent predictors of mortality from malignant melanoma of the choroid and ciliary body. ⁶² ⁵⁷	Al-Jamal RT...Kivela T	12766034	2003
25	Incidence of uveal melanoma in the United States: 1973-1997. ⁶² ⁵⁷	Singh AD...Topham A	12750097	2003
26	Consecutive choroidal melanoma in the same eye of a patient. ⁶² ⁵⁷	Hadden PW...Damato BE	12719093	2003
27	EMAP-II expression is associated with macrophage accumulation in primary uveal melanoma. ⁶² ⁵⁷	Clarijs R...de Waal RM	12714608	2003
28	Clinicopathologic reports, case reports, and small case series: enucleation following transpupillary thermotherapy of choroidal melanoma: clinicopathologic correlations. ⁶² ⁵⁷	Singh AD...Shields JA	12617712	2003
29	Treatment of experimental choroidal melanoma with an Nd:yttrium-lanthanum-fluoride laser at 1047 nm. ⁶² ⁵⁷	Krause MH...Young LH	12617706	2003
30	Tumor basal area and metastatic death after proton beam irradiation for choroidal melanoma. ⁶² ⁵⁷	Li W...Egan KM	12523887	2003
31	Combined plaque radiotherapy and transpupillary thermotherapy for choroidal melanoma: tumor control and treatment complications in 270 consecutive patients. ⁶² ⁵⁷	Shields CL...Brady LW	12096964	2002
32	Primary transpupillary thermotherapy for small choroidal melanoma in 256 consecutive cases: outcomes and limitations. ⁶² ⁵⁷	Shields CL...Cater J	11825800	2002
33	Calcification in choroidal melanoma after transpupillary thermotherapy. ⁶² ⁵⁷	Kiratli H...Bilgic S	11730670	2001
34	Efficacy of (123)N-isopropyl-p-[(123)I]-iodoamphetamine single photon emission computed tomography for the diagnosis of uveal malignant melanoma. ⁶² ⁵⁷	Goto H...Ishii I	11730669	2001
35	Uveal melanoma: no expression of HLA-G. ⁶² ⁵⁷	Hurks HM...Jager MJ	11726606	2001
36	Choroidal melanoma metastatic to the contralateral choroid. ⁶² ⁵⁷	Singh AD...Sato T	11730671	2001
37	Absence of type I estrogen receptors in choroidal melanoma: analysis of Collaborative Ocular Melanoma Study (COMS) eyes. ⁶² ⁵⁷	Grostern RJ...Collaborative Ocular Melanoma Study Group	11384577	2001
38	Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15. ⁶² ⁵⁷	Collaborative Ocular Melanoma Study Group.	11346394	2001
39	Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. ⁶² ⁵⁷	Tschentscher F...Zeschnigk M	11309305	2001
40	Concurrent choroidal melanoma in son and father. ⁶² ⁵⁷	Singh AD...Smith AF	11078855	2000
41	Neoadjuvant interferon alfa-2b treatment in a murine model for metastatic ocular melanoma: a preliminary study. ⁶² ⁵⁷	Dithmar S...Grossniklaus HE	10922203	2000
42	Metastatic melanoma death rates by anatomic site after proton beam irradiation for uveal melanoma. ⁶² ⁵⁷	Li W...Egan KM	10922199	2000
43	Occurrence of retinoblastoma and uveal melanoma in the same patient. ⁶² ⁵⁷	Singh AD...Sternberg P	10872940	2000
44	Familial uveal melanoma. Clinical observations on 56 patients. ⁶² ⁵⁷	Singh AD...Pastore D	8602775	1996
45	Two subclones in a case of uveal melanoma. Relevance of monosomy 3 and multiplication of chromosome 8q. ⁶² ⁵⁷	Prescher G...Becher R	7954325	1994
46	Familial uveal melanoma. ⁶² ⁵⁷	Young LH...Gragoudas ES	8154536	1994
47	The prognostic value of tumor blood vessel morphology in primary uveal melanoma. ⁶² ⁵⁷	Folberg R...Gruman LM	8371929	1993
48	Non-random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma. ⁶² ⁵⁷	Sisley K...Rees RC	1384670	1992
49	Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma. ⁶² ⁵⁷	Horsthemke B...Becher R	1382562	1992
50	Chromosomal aberrations defining uveal melanoma of poor prognosis. ⁶² ⁵⁷	Prescher G...Becher R	1347396	1992

Sources

Genes for Melanoma, Uveal

Genes related to Melanoma, Uveal (6 elite genes):

(show top 50) (show all 128)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BAP1	BRCA1 Associated Protein 1	Protein Coding	758.28	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	21941004
2	PLCB4	Phospholipase C Beta 4	Protein Coding	407.38	Pathogenic ⁵ DISEASES inferred ¹⁴
3	GNAQ	G Protein Subunit Alpha Q	Protein Coding	383.98	Causative somatic mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	21083380 23714557 25157968
4	GNA11	G Protein Subunit Alpha 11	Protein Coding	383.91	Causative somatic mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	21083380 23714557 21444680 (more) 24141786 25157968
5	CYSLTR2	Cysteinyl Leukotriene Receptor 2	Protein Coding	357.28	Causative somatic mutation ⁵⁸ DISEASES inferred ¹⁴	27089179
6	SF3B1	Splicing Factor 3b Subunit 1	Protein Coding	57.22	Likely pathogenic ⁵ Orphanet ⁵⁸ DISEASES inferred ¹⁴	23861464 23714557
7	RHPN1-AS1	RHPN1 Antisense RNA 1 (Head To Head)	RNA Gene	155.92	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	28124977
8	PAUPAR	PAX6 Upstream Antisense RNA	RNA Gene	155.36	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	27214741
9	HOXA11-AS	HOXA11 Antisense RNA	RNA Gene	154.77	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	28749709
10	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	153.33	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27449031
11	MALAT1	Metastasis Associated Lung Adenocarcinoma Transcript 1	RNA Gene	152.77	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27725873
12	MIRLET7B	MicroRNA Let-7b	RNA Gene	55.02	Unspecified ⁴⁶ DISEASES inferred ¹⁴	18477892
13	MIR193B	MicroRNA 193b	RNA Gene	54.23	Unspecified ⁴⁶ DISEASES inferred ¹⁴	18477892
14	MIR652	MicroRNA 652	RNA Gene	54.03	Unspecified ⁴⁶ DISEASES inferred ¹⁴	18477892
15	MIR143	MicroRNA 143	RNA Gene	53.86	Unspecified ⁴⁶ DISEASES inferred ¹⁴	18477892
16	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	15.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14522897
17	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	14.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14691295 15928660 12778069 (more) 14522889 18281615 15577314 18985043 16410717 15811117 17898258 17962436 15277467 12824225 17885757 15917418 14522897 16452469
18	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	13.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11934320
19	MLANA	Melan-A	Protein Coding	13.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9820172 17906753
20	TYR	Tyrosinase	Protein Coding	13.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17445277 17317826 11934320 (more) 9820172 8970601 16314735 18079680 9508371 17906753 8125745
21	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	12.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11431374 12556369 12362979 (more) 10067984 11581185 18629284 8740697 17207529 8631588 17047042 10732752 18211945 8970601 11812429
22	CDH5	Cadherin 5	Protein Coding	12.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19735546 18477893 19043732
23	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	12.35	DISEASES inferred ¹⁴ ¹⁴
24	S100B	S100 Calcium Binding Protein B	Protein Coding	11.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17264538 16424536 1855181 (more) 8437829 8909318 8225871 9920419
25	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	11.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17453948 20061986 19029026 (more) 9546344 16303922 19032678
26	MC1R	Melanocortin 1 Receptor	Protein Coding	11.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17325166 14612910 11481256
27	CDK4	Cyclin Dependent Kinase 4	Protein Coding	11.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10732752 9426066 17047042
28	PMEL	Premelanosome Protein	Protein Coding	10.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9508371 9820172
29	MMP2	Matrix Metallopeptidase 2	Protein Coding	10.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16379022 10398141 11371496 (more) 11400149 18423620
30	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	10.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11773005 20061986 19032678 (more) 17050279 16489097 16303922 19032679
31	H2AC18	H2A Clustered Histone 18	Protein Coding	9.9	DISEASES inferred ¹⁴ ¹⁴
32	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	9.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15637418 12845640 18211945 (more) 18300240 18423620
33	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	9.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11381041 16966150
34	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	9.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18235009 17410362 19553629 (more) 16826425 20036848
35	CCN1	Cellular Communication Network Factor 1	Protein Coding	9.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12470148 14729616
36	MIR199A1	MicroRNA 199a-1	RNA Gene	9.32	DISEASES inferred ¹⁴ ¹⁴
37	MAGEA3	MAGE Family Member A3	Protein Coding	9.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9247253
38	MDM2	MDM2 Proto-Oncogene	Protein Coding	8.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10861569 11812429
39	PLG	Plasminogen	Protein Coding	8.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11735791 16735992 10596910
40	EIF1AX	Eukaryotic Translation Initiation Factor 1A X-Linked	Protein Coding	8.32	DISEASES inferred ¹⁴
41	MAGEA1	MAGE Family Member A1	Protein Coding	8.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8647642 9247253
42	UVM1	Melanoma, Uveal, Susceptibility To, 1	Genetic Locus	8.26	GeneCards inferred via : Gene name (show sections)
43	UVM2	Melanoma, Uveal, Susceptibility To, 2	Genetic Locus	8.26	GeneCards inferred via : Gene name (show sections)
44	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	8.16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9286277 16384937
45	KRT8	Keratin 8	Protein Coding	8.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9484713
46	THBS1	Thrombospondin 1	Protein Coding	8.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18836566 16314734 17003493
47	MIR9-1	MicroRNA 9-1	RNA Gene	7.9	DISEASES inferred ¹⁴ ¹⁴
48	MIR17	MicroRNA 17	RNA Gene	7.84	DISEASES inferred ¹⁴ ¹⁴
49	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	7.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11913959 11029052
50	EZR	Ezrin	Protein Coding	7.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12893187 17453948

Sources

Variations for Melanoma, Uveal

ClinVar genetic disease variations for Melanoma, Uveal:

⁵ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BAP1	NM_004656.4(BAP1):c.932-151G>A	SNV	Pathogenic	1698872		GRCh37: 3:52439461-52439461 GRCh38: 3:52405445-52405445
2	PLCB4	NM_001377142.1(PLCB4):c.1924G>T (p.Asp642Tyr)	SNV	Pathogenic	633597	rs1568763104	GRCh37: 20:9389753-9389753 GRCh38: 20:9409106-9409106
3	BAP1	NM_004656.4(BAP1):c.932-8_960del	DEL	Pathogenic	633598	rs1559588632	GRCh37: 3:52439282-52439318 GRCh38: 3:52405266-52405302
4	SF3B1	NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)	SNV	Likely Pathogenic	376534	rs1057519961	GRCh37: 2:198267483-198267483 GRCh38: 2:197402759-197402759
5	GNAQ	NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu)	INDEL	Likely Pathogenic	376311	rs1057519853	GRCh37: 9:80409488-80409489 GRCh38: 9:77794572-77794573
6	GNA11	NM_002067.5(GNA11):c.626A>C (p.Gln209Pro)	SNV	Likely Pathogenic	376001	rs1057519742	GRCh37: 19:3118942-3118942 GRCh38: 19:3118944-3118944
7	GNAQ	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)	SNV	Likely Pathogenic	375957	rs121913492	GRCh37: 9:80409488-80409488 GRCh38: 9:77794572-77794572
8	GNAQ	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	SNV	Likely Pathogenic	375955	rs121913492	GRCh37: 9:80409488-80409488 GRCh38: 9:77794572-77794572
9	GNA11	NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)	SNV	Likely Pathogenic	376002	rs1057519742	GRCh37: 19:3118942-3118942 GRCh38: 19:3118944-3118944
10	EIF1AX	NM_001412.4(EIF1AX):c.17G>T (p.Gly6Val)	SNV	Uncertain Significance	1708311		GRCh37: X:20156740-20156740 GRCh38: X:20138622-20138622
11	TMEM127	NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)	SNV	Uncertain Significance	463853	rs762657413	GRCh37: 2:96919701-96919701 GRCh38: 2:96253963-96253963

Copy number variations for Melanoma, Uveal from CNVD:

⁶ (show all 33)

#	CNVD ID	Chromosome	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	CCN2	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	ASAP1	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	GDF15	Uveal melanoma
33	240624	8	52800000	55600000	Gain	RP1	Uveal melanoma

Sources

Expression for Melanoma, Uveal

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

Sources

Pathways for Melanoma, Uveal

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

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.04	PLCB4 NRAS GNAQ GNA11 CYSLTR2 BRAF
2	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.59	BRAF GNA11 GNAQ NRAS PLCB4
3	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12	PLCB4 GNAQ GNA11
4	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	11.87	PLCB4 NRAS GNA11 BRAF
5	MAP Kinase Signaling ³	11.74	NRAS GNAQ BRAF
6	Development A2B receptor- action via G-protein alpha s ²² Show member pathways Development A2A receptor signaling ²²	11.65	PLCB4 GNAQ GNA11 BRAF
7	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.61	GNAQ GNA11 BRAF
8	G-protein signaling_RhoA regulation pathway ²²	11.49	NRAS GNAQ GNA11 BRAF
9	Serotonin HTR1 group and FOS pathway ⁷⁴ Show member pathways Serotonin receptor 2 and ELK-SRF/GATA4 signaling ⁷⁴ Serotonin receptor 4/6/7 and NR3C signaling ⁷⁴	11.42	NRAS GNAQ BRAF
10	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.35	PLCB4 GNAQ GNA11
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	PLCB4 GNAQ GNA11
12	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	11.04	PLCB4 GNAQ GNA11
13	Transcription_Transcription factor Tubby signaling pathways ²²	10.87	PLCB4 NRAS GNAQ GNA11
14	PKC-gamma calcium signaling pathway in ataxia ⁷⁴	10.45	PLCB4 GNAQ GNA11
15	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	10.37	TYR MLANA MITF GNAQ