eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| subependymal giant cell astrocytoma | ||||
| Disease ID | 1239 |
|---|---|
| Disease | subependymal giant cell astrocytoma |
| Definition | A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. [HPO:curators] |
| Synonym | [m]subependymal giant cell astrocytoma astrocytoma, subependymal giant cell sega sega - subependymal giant cell astrocytoma subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic tumor subependymal giant cell astrocytoma (disorder) subependymal giant cell astrocytoma (morphologic abnormality) subependymal giant-cell astrocytoma |
| Orphanet | |
| DOID | |
| UMLS | C0205768 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0041341 | tuberous sclerosis | 44 C0041341 | tuberous sclerosis complex | 29 C0151740 | raised intracranial pressure | 1 C0014544 | epilepsy | 1 C0206633 | angiomyolipoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:29) 1641 | DCX | 1.13 | DISEASES 1809 | DPYSL3 | 2.322 | DISEASES 1978 | EIF4EBP1 | 1.712 | DISEASES 1996 | ELAVL4 | 1.751 | DISEASES 2058 | EPRS | 2.028 | DISEASES 2173 | FABP7 | 2.081 | DISEASES 2280 | FKBP1A | 1.777 | DISEASES 642489 | FKBP1C | 1.873 | DISEASES 10457 | GPNMB | 1.84 | DISEASES 3702 | ITK | 1.552 | DISEASES 284252 | KCTD1 | 4.67 | DISEASES 4133 | MAP2 | 1.118 | DISEASES 4155 | MBP | 1.021 | DISEASES 2475 | MTOR | 5.261 | DISEASES 10763 | NES | 2.075 | DISEASES 7080 | NKX2-1 | 2.222 | DISEASES 388677 | NOTCH2NL | 2.818 | DISEASES 4897 | NRCAM | 2.011 | DISEASES 10215 | OLIG2 | 1.378 | DISEASES 5426 | POLE | 1.87 | DISEASES 146713 | RBFOX3 | 2.282 | DISEASES 6194 | RPS6 | 2.327 | DISEASES 6195 | RPS6KA1 | 1.372 | DISEASES 10590 | SCGN | 2.636 | DISEASES 51150 | SDF4 | 1.46 | DISEASES 6424 | SFRP4 | 1.76 | DISEASES 7053 | TGM3 | 1.795 | DISEASES 10381 | TUBB3 | 2.333 | DISEASES 51060 | TXNDC12 | 3.088 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1239 |
|---|---|
| Disease | subependymal giant cell astrocytoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002664 | Neoplasia | 2 HP:0006772 | Angiomyolipoma | 1 HP:0040184 | Oral hemorrhage | 1 HP:0001631 | Atria septal defect | 1 |
| Disease ID | 1239 |
|---|---|
| Disease | subependymal giant cell astrocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25346165 | 673 | BRAF | umls:C0205768 | BeFree | BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. | 0.000271442 | 2014 | 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1239 |
|---|---|
| Disease | subependymal giant cell astrocytoma |
| Case | (Waiting for update.) |