eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| giant cell glioblastoma | ||||
| Disease ID | 1673 |
|---|---|
| Disease | giant cell glioblastoma |
| Definition | A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) |
| Synonym | giant cell glioblastoma (morphologic abnormality) giant cell glioblastomas glioblastoma, giant cell glioblastomas, giant cell monstrocellular sarcoma [obs] |
| Orphanet | |
| DOID | |
| UMLS | C0334588 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:11) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 546 | ATRX | 1.652 | DISEASES 9212 | AURKB | 3.313 | DISEASES 9184 | BUB3 | 3.083 | DISEASES 1029 | CDKN2A | 2.269 | DISEASES 1896 | EDA | 1.374 | DISEASES 3418 | IDH2 | 1.37 | DISEASES 4193 | MDM2 | 2.571 | DISEASES 4763 | NF1 | 1.51 | DISEASES 4914 | NTRK1 | 1.25 | DISEASES 5728 | PTEN | 1.722 | DISEASES 10381 | TUBB3 | 2.014 | DISEASES |
| Locus | Symbol | Locus(Total Locus:12) |
| Disease ID | 1673 |
|---|---|
| Disease | giant cell glioblastoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1673 |
|---|---|
| Disease | giant cell glioblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1704231 | leptomeningeal metastases |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25885250 | 673 | BRAF | umls:C0334588 | BeFree | The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24345274 | 673 | BRAF | umls:C0334588 | BeFree | We further investigated the utility of combined BRAF V600E (VE1) and p16 analysis by immunohistochemistry to distinguish PXAs from relevant histological mimics like giant-cell glioblastoma. | 0.000542884 | 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 | 1673 |
|---|---|
| Disease | giant cell glioblastoma |
| Case | (Waiting for update.) |