eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary mediastinal large b-cell lymphoma | ||||
| Disease ID | 1373 |
|---|---|
| Disease | primary mediastinal large b-cell lymphoma |
| Definition | A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) |
| Synonym | b-cell diffuse large cell lymphoma of mediastinum b-cell diffuse large cell lymphoma of the mediastinum mediastinal (thymic) large b-cell lymphoma mediastinal b-cell diffuse large cell lymphoma mediastinal large b-cell lymphoma mediastinal large b-cell lymphoma (morphologic abnormality) pmbl pmlcl primary mediastinal (thymic) large b-cell lymphoma primary mediastinal (thymic) large b-cell lymphoma (disorder) thymic large b-cell lymphoma |
| Orphanet | |
| UMLS | C1292754 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0040053 | thrombosis | 1 C0024299 | lymphoma | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0079731 | b-cell lymphoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) BCL6 | 3q27.3 |
| Disease ID | 1373 |
|---|---|
| Disease | primary mediastinal large b-cell lymphoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1373 |
|---|---|
| Disease | primary mediastinal large b-cell lymphoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0742803 | conus medullaris syndrome |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386626619 | 19704259 | 3717 | JAK2 | umls:C1292754 | BeFree | No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. | 0.001085767 | 2009 | NA | NA | NA | NA | NA |
| rs77375493 | 19704259 | 3717 | JAK2 | umls:C1292754 | BeFree | No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. | 0.001085767 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,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 | 1373 |
|---|---|
| Disease | primary mediastinal large b-cell lymphoma |
| Case | (Waiting for update.) |