eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary central nervous system lymphoma | ||||
| Disease ID | 1559 |
|---|---|
| Disease | primary central nervous system lymphoma |
| Definition | A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. [pmid:23696924] |
| Synonym | [m]microglioma [m]microglioma (morphologic abnormality) central nervous system lymphoma, primary cns lymphoma primary cns lymphoma, primary lymphoma, primary central nervous system lymphoma, primary cns microglioma microglioma (disorder) microglioma (morphologic abnormality) microglioma -retired- microglioma [obs] pcnsl pcnsl - primary cns lymphoma primary cns lymphoma primary lymphoma cns |
| Orphanet | |
| DOID | |
| UMLS | C0280803 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:23) C0024299 | lymphomas | 3 C0281658 | intraocular lymphoma | 2 C0730306 | ocular lymphoma | 2 C1621958 | glioblastoma multiforme | 2 C0024299 | lymphoma | 2 C0001175 | acquired immune deficiency syndrome | 2 C0281658 | primary intraocular lymphoma | 2 C0001175 | acquired immune deficiency | 2 C0035302 | retinal artery occlusion | 1 C0547030 | visual disturbance | 1 C0011848 | diabetes insipidus | 1 C0017636 | glioblastoma | 1 C0023492 | t-cell leukemia | 1 C0007688 | central retinal artery occlusion | 1 C0026896 | myasthenia gravis | 1 C0003873 | rheumatoid arthritis | 1 C0003864 | arthritis | 1 C0079731 | b-cell lymphoma | 1 C0023418 | leukemia | 1 C0001175 | acquired immunodeficiency syndrome | 1 C0011847 | diabetes | 1 C0497327 | dementia | 1 C0023493 | adult t-cell leukemia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1559 |
|---|---|
| Disease | primary central nervous system lymphoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0002665 | Lymphoma | 3 HP:0002721 | Immunodeficiency | 3 HP:0011096 | Demyelination | 2 HP:0002664 | Neoplasia | 2 HP:0012174 | Glioblastoma multiforme | 2 HP:0000726 | Dementia | 1 HP:0030692 | Brain tumor | 1 HP:0002354 | Memory loss | 1 HP:0100843 | Glioblastoma | 1 HP:0012189 | Hodgkin disease | 1 HP:0001369 | Arthritis | 1 HP:0001342 | Intracerebral hemorrhage | 1 HP:0100754 | Mania | 1 HP:0001909 | Leukemia | 1 HP:0012191 | B-cell lymphoma | 1 HP:0000873 | Diabetes insipidus | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0003473 | Fatigable weakness | 1 HP:0002902 | Hyponatremia | 1 HP:0002725 | Systemic lupus erythematosus | 1 |
| Disease ID | 1559 |
|---|---|
| Disease | primary central nervous system lymphoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801131 | 20237949 | 4524 | MTHFR | umls:C0280803 | BeFree | Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A > C (E429A) polymorphism the mutated C-allele was found more frequently among PCNSL patients than among population controls (P = 0.026; OR = 1.57; 1.05-2.34). | 0.000271442 | 2010 | MTHFR | 1 | 11794419 | T | G |
| rs1805087 | 15138479 | 4548 | MTR | umls:C0280803 | BeFree | The methionine synthase polymorphism D919G alters susceptibility to primary central nervous system lymphoma. | 0.000271442 | 2004 | MTR | 1 | 236885200 | A | G |
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.) |
| Disease ID | 1559 |
|---|---|
| Disease | primary central nervous system lymphoma |
| Case | (Waiting for update.) |