eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| uveal melanoma | ||||
| Disease ID | 370 |
|---|---|
| Disease | uveal melanoma |
| Definition | A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). [HPO:curators] |
| Synonym | eye cancer, intraocular melanoma intraocular melanoma melanoma of the uvea melanoma of uvea melanoma, intraocular melanoma, uveal melanoma, uveal, malignant |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220633 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0494165 | liver metastases | 8 C0025202 | melanoma | 5 C0035305 | retinal detachment | 5 C0494165 | liver metastasis | 3 C0151779 | cutaneous melanoma | 2 C0494165 | hepatic metastases | 2 C0558356 | ocular melanoma | 2 C0025202 | melanomas | 1 C0017601 | glaucoma | 1 C0271051 | macular edema | 1 C0024441 | macular holes | 1 C0024441 | macular hole | 1 C0011334 | cavities | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:134) 10057 | ABCC5 | 1.604 | DISEASES 9255 | AIMP1 | 1.989 | DISEASES 309 | ANXA6 | 1.067 | DISEASES 50807 | ASAP1 | 1.655 | DISEASES 55252 | ASXL2 | 1.567 | DISEASES 100885775 | BANCR | 1.788 | DISEASES 8314 | BAP1 | 5.717 | DISEASES 10018 | BCL2L11 | 1.607 | DISEASES 90427 | BMF | 1.183 | DISEASES 8315 | BRAP | 1.839 | DISEASES 675 | BRCA2 | 1.439 | DISEASES 56244 | BTNL2 | 1.155 | DISEASES 9184 | BUB3 | 1.383 | DISEASES 65250 | C5orf42 | 1.278 | DISEASES 401237 | CASC15 | 2.205 | DISEASES 842 | CASP9 | 1.133 | DISEASES 388372 | CCL4L1 | 1.293 | DISEASES 9332 | CD163 | 2.053 | DISEASES 29126 | CD274 | 2.326 | DISEASES 1003 | CDH5 | 2.285 | DISEASES 1029 | CDKN2A | 3.385 | DISEASES 643911 | CRNDE | 2.633 | DISEASES 64478 | CSMD1 | 1.116 | DISEASES 1499 | CTNNB1 | 1.337 | DISEASES 8453 | CUL2 | 1.189 | DISEASES 6387 | CXCL12 | 1.98 | DISEASES 7852 | CXCR4 | 2.097 | DISEASES 3491 | CYR61 | 1.197 | DISEASES 10521 | DDX17 | 1.335 | DISEASES 55510 | DDX43 | 1.172 | DISEASES 28955 | DEXI | 1.829 | DISEASES 65989 | DLK2 | 2.554 | DISEASES 55715 | DOK4 | 2.083 | DISEASES 1892 | ECHS1 | 1.305 | DISEASES 1964 | EIF1AX | 5.473 | DISEASES 2009 | EML1 | 1.656 | DISEASES 2022 | ENG | 1.641 | DISEASES 1969 | EPHA2 | 1.41 | DISEASES 356 | FASLG | 1.36 | DISEASES 2272 | FHIT | 1.276 | DISEASES 752 | FMNL1 | 1.612 | DISEASES 50943 | FOXP3 | 1.401 | DISEASES 100302692 | FTX | 1.892 | DISEASES 8087 | FXR1 | 2.036 | DISEASES 2770 | GNAI1 | 2.032 | DISEASES 2790 | GNG10 | 2.811 | DISEASES 3039 | HBA1 | 1.587 | DISEASES 3105 | HLA-A | 2.738 | DISEASES 3106 | HLA-B | 2.366 | DISEASES 3107 | HLA-C | 1.003 | DISEASES 3135 | HLA-G | 1.021 | DISEASES 3320 | HSP90AA1 | 1.346 | DISEASES 3316 | HSPB2 | 1.088 | DISEASES 3440 | IFNA2 | 1.186 | DISEASES 3684 | ITGAM | 1.12 | DISEASES 554203 | JPX | 1.51 | DISEASES 3814 | KISS1 | 1.182 | DISEASES 3875 | KRT18 | 1.397 | DISEASES 3850 | KRT3 | 1.069 | DISEASES 3895 | KTN1 | 1.631 | DISEASES 5641 | LGMN | 1.042 | DISEASES 4100 | MAGEA1 | 1.69 | DISEASES 4101 | MAGEA2 | 2.073 | DISEASES 266740 | MAGEA2B | 2.075 | DISEASES 4102 | MAGEA3 | 1.01 | DISEASES 728239 | MAGED4 | 1.994 | DISEASES 5609 | MAP2K7 | 3.922 | DISEASES 4157 | MC1R | 2.545 | DISEASES 4193 | MDM2 | 1.733 | DISEASES 100507436 | MICA | 1.407 | DISEASES 50488 | MINK1 | 1.074 | DISEASES 2315 | MLANA | 3.672 | DISEASES 4318 | MMP9 | 1.74 | DISEASES 9788 | MTSS1 | 1.863 | DISEASES 4609 | MYC | 2.279 | DISEASES 55967 | NDUFA12 | 3.731 | DISEASES 4763 | NF1 | 1.313 | DISEASES 4791 | NFKB2 | 1.466 | DISEASES 4893 | NRAS | 3.769 | DISEASES 56953 | NT5M | 1.613 | DISEASES 114299 | PALM2 | 3.396 | DISEASES 8505 | PARG | 1.267 | DISEASES 11315 | PARK7 | 1.299 | DISEASES 103157000 | PAUPAR | 3.374 | DISEASES 55193 | PBRM1 | 1.763 | DISEASES 64065 | PERP | 2.97 | DISEASES 5225 | PGC | 1.629 | DISEASES 5236 | PGM1 | 1.989 | DISEASES 54872 | PIGG | 1.757 | DISEASES 5332 | PLCB4 | 3.689 | DISEASES 6490 | PMEL | 3.295 | DISEASES 11201 | POLI | 1.452 | DISEASES 23532 | PRAME | 2.121 | DISEASES 149830 | PRNT | 3.139 | DISEASES 5699 | PSMB10 | 1.24 | DISEASES 5698 | PSMB9 | 1.359 | DISEASES 5728 | PTEN | 1.111 | DISEASES 5743 | PTGS2 | 1.151 | DISEASES 5747 | PTK2 | 1.116 | DISEASES 11156 | PTP4A3 | 3.769 | DISEASES 5915 | RARB | 1.188 | DISEASES 158158 | RASEF | 2.635 | DISEASES 25780 | RASGRP3 | 1.674 | DISEASES 11186 | RASSF1 | 2.341 | DISEASES 78998 | RHPN1-AS1 | 3.628 | DISEASES 60626 | RIC8A | 2.592 | DISEASES 23521 | RPL13A | 1.36 | DISEASES 6160 | RPL31 | 2.21 | DISEASES 6161 | RPL32 | 1.584 | DISEASES 6175 | RPLP0 | 1.23 | DISEASES 6218 | RPS17 | 1.503 | DISEASES 6258 | RXRG | 1.297 | DISEASES 6277 | S100A6 | 1.731 | DISEASES 60485 | SAV1 | 1.289 | DISEASES 23451 | SF3B1 | 2.643 | DISEASES 9597 | SMAD5-AS1 | 2.408 | DISEASES 23583 | SMUG1 | 1.358 | DISEASES 221833 | SP8 | 2.047 | DISEASES 6696 | SPP1 | 1.894 | DISEASES 51066 | SSUH2 | 2.974 | DISEASES 8802 | SUCLG1 | 2.739 | DISEASES 55959 | SULF2 | 1.111 | DISEASES 7004 | TEAD4 | 1.593 | DISEASES 7042 | TGFB2 | 1.096 | DISEASES 7247 | TSN | 1.173 | DISEASES 23331 | TTC28 | 2.457 | DISEASES 10376 | TUBA1B | 1.473 | DISEASES 7280 | TUBB2A | 1.237 | DISEASES 7306 | TYRP1 | 1.66 | DISEASES 7422 | VEGFA | 2.717 | DISEASES 51710 | ZNF44 | 1.179 | DISEASES 115560 | ZNF501 | 1.22 | DISEASES 148266 | ZNF569 | 1.192 | DISEASES 284390 | ZNF763 | 1.22 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 370 |
|---|---|
| Disease | uveal melanoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0012508 | Metamorphopsia HP:0001098 | Abnormality of the fundus HP:0030786 | Photopsia HP:0010920 | Zonular cataract HP:0007906 | Increased intraocular pressure HP:0011499 | Mydriasis HP:0007902 | Vitreous hemorrhage HP:0030800 | Abnormal visual accommodation HP:0100533 | Inflammatory abnormality of the eye HP:0000541 | Retinal detachment HP:0007716 | Intraocular melanoma HP:0012055 | Ciliary body melanoma HP:0008494 | Inferior lens subluxation HP:0200026 | Ocular pain HP:0000572 | Visual loss HP:0011524 | Iris melanoma HP:0000539 | Abnormality of refraction HP:0012054 | Choroidal melanoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002664 | Neoplasia | 8 HP:0002861 | Melanoma | 6 HP:0000541 | Detached retina | 5 HP:0012056 | Cutaneous melanoma | 2 HP:0012231 | Exudative retinal detachment | 2 HP:0000969 | Dropsy | 2 HP:0001371 | Flexion contractures of joints | 1 HP:0040049 | Macular edema | 1 HP:0001263 | Developmental retardation | 1 HP:0012054 | Choroidal melanoma | 1 HP:0012230 | Rhegmatogenous retinal detachment | 1 HP:0000501 | Glaucoma | 1 HP:0011508 | Macular hole | 1 |
| Disease ID | 370 |
|---|---|
| Disease | uveal melanoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2363900 | congenital ocular melanocytosis C1963229 | retinal detachment C1262091 | lymphocytic infiltration C0684550 | vertebral metastasis C0494165 | liver metastasis C0494165 | liver metastases C0494165 | hepatic metastasis C0494165 | hepatic metastases C0442893 | systemic disease C0271137 | anterior chamber angle recession C0205748 | dysplastic nevi C0162678 | neurofibromatosis C0154916 | iris neovascularisation C0031763 | photosensitization C0027961 | oculodermal melanocytosis C0020676 | hypothyroidism |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0494165 | liver metastases | 7 C0035305 | retinal detachment | 5 C0494165 | liver metastasis | 4 C0494165 | hepatic metastases | 2 C2363900 | congenital ocular melanocytosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 23685997 | 2767 | GNA11 | umls:C0220633 | BeFree | We wanted to gain an understanding of the role of GNAQ, GNA11 and BRAF V600E in the pathogenesis of uveal melanocytoma and in cases of transformation to uveal melanoma and also to perform a differential immunohistochemical study comparing melanocytoma with uveal melanoma. | 0.127057489 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23685997 | 673 | BRAF | umls:C0220633 | BeFree | We wanted to gain an understanding of the role of GNAQ, GNA11 and BRAF V600E in the pathogenesis of uveal melanocytoma and in cases of transformation to uveal melanoma and also to perform a differential immunohistochemical study comparing melanocytoma with uveal melanoma. | 0.00434307 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15277467 | 673 | BRAF | umls:C0220633 | BeFree | Others have demonstrated a BRAF T1799A-activating mutation in cutaneous but not uveal melanoma. | 0.00434307 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0007716 | Intraocular melanoma | MP:0010275 | increased melanoma incidence | greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period |
| HP:0000539 | Abnormality of refraction | MP:0000264 | failure of vascular branching | failure of vasculature to form divisions (offshoots) |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
| HP:0200026 | Ocular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0007902 | Vitreous hemorrhage | MP:0006185 | retinal hemorrhage | bleeding into the retina |
| HP:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0010920 | Zonular cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| HP:0007906 | Increased intraocular pressure | MP:0005257 | abnormal intraocular pressure | anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200026 | Ocular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0010920 | Zonular cataract | MP:0010263 | total cataracts | a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital |
| HP:0000539 | Abnormality of refraction | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0007902 | Vitreous hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012508 | Metamorphopsia | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0007906 | Increased intraocular pressure | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011499 | Mydriasis | MP:0009862 | abnormal aorta elastic tissue morphology | any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall |
| HP:0007716 | Intraocular melanoma | MP:0012768 | decreased KLRG1-positive NK cell number | decrease in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation |
| Disease ID | 370 |
|---|---|
| Disease | uveal melanoma |
| Case | (Waiting for update.) |