eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dysembryoplastic neuroepithelial tumor | ||||
| Disease ID | 1674 |
|---|---|
| Disease | dysembryoplastic neuroepithelial tumor |
| Definition | A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface. (Adapted from WHO) |
| Synonym | dnet dysembryoplastic neuroepithelial neoplasm dysembryoplastic neuroepithelial tumor (disorder) dysembryoplastic neuroepithelial tumor (morphologic abnormality) dysembryoplastic neuroepithelial tumour |
| Orphanet | |
| DOID | |
| UMLS | C1266177 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0014544 | epilepsy | 5 C1096063 | intractable epilepsy | 2 C0017636 | glioblastoma | 1 C0041696 | major depressive disorder | 1 C0014547 | focal epilepsy | 1 C0334583 | pilocytic astrocytoma | 1 C1621958 | glioblastoma multiforme | 1 C0334586 | pleomorphic xanthoastrocytoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 4363 | ABCC1 | 1.539 | DISEASES 11200 | CHEK2 | 1.12 | DISEASES 1641 | DCX | 1.525 | DISEASES 1995 | ELAVL3 | 1.935 | DISEASES 1996 | ELAVL4 | 2.145 | DISEASES 9715 | FAM131B | 5.378 | DISEASES 2260 | FGFR1 | 2.163 | DISEASES 2335 | FN1 | 1.45 | DISEASES 2903 | GRIN2A | 1.493 | DISEASES 9118 | INA | 2.744 | DISEASES 57670 | KIAA1549 | 4.478 | DISEASES 4340 | MOG | 1.033 | DISEASES 9961 | MVP | 3.143 | DISEASES 4603 | MYBL1 | 1.456 | DISEASES 4661 | MYT1 | 3.851 | DISEASES 4763 | NF1 | 1.914 | DISEASES 10215 | OLIG2 | 4.549 | DISEASES 5728 | PTEN | 2.614 | DISEASES 9444 | QKI | 2.891 | DISEASES 146713 | RBFOX3 | 3.103 | DISEASES 23583 | SMUG1 | 1.248 | DISEASES 6622 | SNCA | 1.366 | DISEASES 10381 | TUBB3 | 3.332 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1674 |
|---|---|
| Disease | dysembryoplastic neuroepithelial tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001250 | Seizures | 1 HP:0012174 | Glioblastoma multiforme | 1 HP:0002664 | Neoplasia | 1 HP:0000716 | Depression | 1 HP:0002539 | Cortical dysplasia | 1 HP:0100843 | Glioblastoma | 1 |
| Disease ID | 1674 |
|---|---|
| Disease | dysembryoplastic neuroepithelial tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 | 25346165 | 673 | BRAF | umls:C1266177 | BeFree | BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. | 0.001085767 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23442159 | 947 | CD34 | umls:C1266177 | BeFree | In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23442159 | 673 | BRAF | umls:C1266177 | BeFree | In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms. | 0.001085767 | 2013 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1674 |
|---|---|
| Disease | dysembryoplastic neuroepithelial tumor |
| Case | (Waiting for update.) |