eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gliomatosis cerebri | ||||
| Disease ID | 1818 |
|---|---|
| Disease | gliomatosis cerebri |
| Definition | A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) |
| Synonym | astrocytosis cerebri gliomatosis gliomatosis cerebri (morphologic abnormality) |
| Orphanet | |
| DOID | |
| UMLS | C0334576 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0039538 | teratoma | 5 C1368910 | mature teratoma | 4 C0346182 | ovarian immature teratoma | 4 C0280131 | ovarian teratoma | 2 C0346326 | optic nerve glioma | 2 C0014175 | endometriosis | 1 C0015300 | proptosis | 1 C1855995 | l-2-hydroxyglutaric aciduria | 1 C0018916 | haemangioma | 1 C0039538 | teratomas | 1 C0085113 | neurofibromatosis | 1 C0243010 | viral encephalitis | 1 C0334579 | anaplastic astrocytoma | 1 C0014084 | ollier disease | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 199 | AIF1 | 1.182 | DISEASES 974 | CD79B | 1.687 | DISEASES 1267 | CNP | 2.513 | DISEASES 1641 | DCX | 1.296 | DISEASES 1969 | EPHA2 | 1.223 | DISEASES 2170 | FABP3 | 1.353 | DISEASES 3020 | H3F3A | 3.623 | DISEASES 3418 | IDH2 | 3.271 | DISEASES 9118 | INA | 3.473 | DISEASES 57670 | KIAA1549 | 2.586 | DISEASES 3897 | L1CAM | 2.071 | DISEASES 4193 | MDM2 | 1.834 | DISEASES 79104 | MEG8 | 1.756 | DISEASES 10763 | NES | 3.012 | DISEASES 4763 | NF1 | 1.126 | DISEASES 10215 | OLIG2 | 3.856 | DISEASES 5728 | PTEN | 2.355 | DISEASES 5910 | RAP1GDS1 | 3.156 | DISEASES 57142 | RTN4 | 1.069 | DISEASES 6280 | S100A9 | 1.424 | DISEASES 23583 | SMUG1 | 1.05 | DISEASES 7422 | VEGFA | 1.176 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1818 |
|---|---|
| Disease | gliomatosis cerebri |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0009792 | Teratoma | 5 HP:0009733 | Glioma | 2 HP:0012226 | Ovarian teratoma | 2 HP:0040144 | L-2-hydroxyglutaric aciduria | 1 HP:0001067 | Neurofibromas | 1 HP:0030127 | Endometriosis | 1 HP:0003150 | Glutaric aciduria | 1 HP:0000520 | Anterior bulging of the globe of eye | 1 HP:0002664 | Neoplasia | 1 HP:0030746 | Intraventricular hemorrhage | 1 |
| Disease ID | 1818 |
|---|---|
| Disease | gliomatosis cerebri |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (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 |
| rs121913500 | 21516462 | 9118 | INA | umls:C0334576 | BeFree | These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is of a great prognostic value in biopsied GC. | 0.000271442 | 2011 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 21516462 | 3417 | IDH1 | umls:C0334576 | BeFree | These data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is of a great prognostic value in biopsied GC. | 0.001085767 | 2011 | IDH1 | 2 | 208248388 | C | T |
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 | 1818 |
|---|---|
| Disease | gliomatosis cerebri |
| Case | (Waiting for update.) |