PedAM
Pediatric Disease Annotations & Medicines
| uveal melanoma | ||||
| Disease ID | 146 |
|---|---|
| Disease | uveal melanoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0012055 | Ciliary body melanoma HP:0012508 | Metamorphopsia HP:0200026 | Ocular pain HP:0000572 | Visual loss HP:0001098 | Abnormality of the fundus HP:0100533 | Inflammatory abnormality of the eye HP:0030786 | Photopsia HP:0007902 | Vitreous hemorrhage HP:0000541 | Retinal detachment HP:0000539 | Abnormality of refraction HP:0007906 | Increased intraocular pressure HP:0011524 | Iris melanoma HP:0008494 | Inferior lens subluxation HP:0011499 | Mydriasis HP:0030800 | Abnormal visual accommodation HP:0012054 | Choroidal melanoma HP:0007716 | Intraocular melanoma HP:0010920 | Zonular cataract |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0002664 | Neoplasia | 9 HP:0000541 | Detached retina | 5 HP:0002861 | Melanoma | 5 HP:0012231 | Exudative retinal detachment | 2 HP:0012056 | Cutaneous melanoma | 2 HP:0000969 | Dropsy | 2 HP:0000501 | Glaucoma | 1 HP:0001067 | Neurofibromas | 1 HP:0011508 | Macular hole | 1 HP:0012230 | Rhegmatogenous retinal detachment | 1 HP:0000572 | Visual loss | 1 HP:0012054 | Choroidal melanoma | 1 HP:0001263 | Developmental retardation | 1 HP:0001371 | Flexion contractures of joints | 1 HP:0040049 | Macular edema | 1 |
| Disease ID | 146 |
|---|---|
| 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:6) C0494165 | liver metastases | 7 C0035305 | retinal detachment | 5 C0494165 | liver metastasis | 4 C0494165 | hepatic metastases | 2 C2363900 | congenital ocular melanocytosis | 1 C0085113 | neurofibromatosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0220633 | arsenic trioxide | C006632 | 1327-53-3 | uveal melanoma | MESH:C536494 | therapeutic | 21061466 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |