PedAM
Pediatric Disease Annotations & Medicines
| granular cell tumor | ||||
| Disease ID | 1813 |
|---|---|
| Disease | granular cell tumor |
| Definition | Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma. |
| Synonym | [m]granular cell tumor nos [m]granular cell tumor nos (morphologic abnormality) [m]granular cell tumour nos abrikossoff tumor abrikossoff's tumor abrikossoff's tumour cell myoblastoma, granular cell myoblastomas, granular cell tumor, granular cell tumors, granular cells granular tumor granular cell myoblastoma granular cell myoblastoma, nos granular cell myoblastomas granular cell neoplasm granular cell nerve sheath tumor granular cell schwannoma granular cell tumor (disorder) granular cell tumor (morphologic abnormality) granular cell tumor [disease/finding] granular cell tumor, nos granular cell tumors granular cell tumour myoblastoma, granular cell myoblastomas, granular cell tumor, granular cell tumors, granular cell |
| DOID | |
| UMLS | C0085167 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0175704 | leopard syndrome | 1 C0008728 | churg strauss syndrome | 1 C0007137 | squamous cell carcinoma | 1 C0019937 | horner's syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:50) 4804 | NGFR | DISEASES 1048 | CEACAM5 | DISEASES 2026 | ENO2 | DISEASES 6678 | SPARC | DISEASES 3860 | KRT13 | DISEASES 968 | CD68 | DISEASES 2670 | GFAP | DISEASES 3958 | LGALS3 | DISEASES 4069 | LYZ | DISEASES 6855 | SYP | DISEASES 7157 | TP53 | DISEASES 7345 | UCHL1 | DISEASES 3815 | KIT | DISEASES 5304 | PIP | DISEASES 3678 | ITGA5 | DISEASES 4286 | MITF | DISEASES 26585 | GREM1 | DISEASES 51181 | DCXR | DISEASES 794 | CALB2 | DISEASES 3872 | KRT17 | DISEASES 947 | CD34 | DISEASES 10007 | GNPDA1 | DISEASES 7030 | TFE3 | DISEASES 150696 | PROM2 | DISEASES 4684 | NCAM1 | DISEASES 3039 | HBA1 | DISEASES 9241 | NOG | DISEASES 64764 | CREB3L2 | DISEASES 26762 | HAVCR1 | DISEASES 7080 | NKX2-1 | DISEASES 55107 | ANO1 | DISEASES 5265 | SERPINA1 | DISEASES 9332 | CD163 | DISEASES 4151 | MB | DISEASES 6663 | SOX10 | DISEASES 9095 | TBX19 | DISEASES 10763 | NES | DISEASES 4288 | MKI67 | DISEASES 6277 | S100A6 | DISEASES 6280 | S100A9 | DISEASES 5236 | PGM1 | DISEASES 2022 | ENG | DISEASES 2516 | NR5A1 | DISEASES 4303 | FOXO4 | DISEASES 551 | AVP | DISEASES 2315 | MLANA | DISEASES 12 | SERPINA3 | DISEASES 6696 | SPP1 | DISEASES 116372 | LYPD1 | DISEASES 6513 | SLC2A1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1813 |
|---|---|
| Disease | granular cell tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0100730 | Bronchogenic cyst | 1 HP:0030731 | Carcinoma | 1 HP:0002277 | Horner's syndrome | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0002835 | Aspiration | 1 |
| Disease ID | 1813 |
|---|---|
| Disease | granular cell tumor |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 23887161 | 673 | BRAF | umls:C0085167 | BeFree | We investigated 7 spindle cell oncocytomas, 4 pituicytomas, and 3 granular cell tumors for their genetic (BRAF(V600E) mutation and BRAF-KIAA fusion), immunohistochemical (GFAP, vimentin, S100 protein, olig2, IDH1-R132H, NF, galectin-3, chromogranin-A, CD56, EMA, CAM5.2, CD68, TTF-1, and bcl-2), and ultrastructural features to refine their classification. | 0.000271442 | 2013 | 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:0) | |
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| (Waiting for update.) | |
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.) | |