eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hairy cell leukemia variant | ||||
| Disease ID | 818 |
|---|---|
| Disease | hairy cell leukemia variant |
| Definition | An indolent chronic B-cell leukemia resembling classic hairy cell leukemia but shows variant cytologic, hematologic, and immunophenotypic features and is resistant to the conventional therapy applied to hairy cell leukemia. Biologically, it is not related to hairy cell leukemia. |
| Synonym | hairy cell leukaemia variant hairy cell leukemia variant (disorder) hcl-v prolymphocytic variant of hairy cell leukemia |
| Orphanet | |
| DOID | |
| UMLS | C0349633 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 23066 | CAND2 | 2.727 | DISEASES 8573 | CASK | 2.749 | DISEASES 930 | CD19 | 3.085 | DISEASES 4345 | CD200 | 2.91 | DISEASES 921 | CD5 | 2.811 | DISEASES 1380 | CR2 | 2.275 | DISEASES 30816 | ERVW-1 | 1.099 | DISEASES 2996 | GYPE | 2.258 | DISEASES 3563 | IL3RA | 4.109 | DISEASES 3638 | INSIG1 | 2.445 | DISEASES 3683 | ITGAL | 1.351 | DISEASES 3903 | LAIR1 | 3.052 | DISEASES 5609 | MAP2K7 | 1.411 | DISEASES 4311 | MME | 1.324 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) IGHV4-34 | 14q32.33 |
| Disease ID | 818 |
|---|---|
| Disease | hairy cell leukemia variant |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 818 |
|---|---|
| Disease | hairy cell leukemia variant |
| Manually Symptom | (Waiting for update.) |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 22706871 | 673 | BRAF | umls:C0349633 | BeFree | BRAF p.V600E mutation was present in all HCL cases and absent in all HCL-v. Our data support the recent finding that BRAF p.V600E mutation is universally present in HCL. | 0.000271442 | 2012 | 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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 818 |
|---|---|
| Disease | hairy cell leukemia variant |
| Case | (Waiting for update.) |