eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic neutrophilic leukemia | ||||
| Disease ID | 1238 |
|---|---|
| Disease | chronic neutrophilic leukemia |
| Definition | A rare myeloproliferative disorder that is characterized by a sustained, mature neutrophilic leukocytosis. No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL). |
| Synonym | chronic neutrophilic leukaemia chronic neutrophilic leukemia (disorder) chronic neutrophilic leukemia (morphologic abnormality) chronic neutrophilic leukemias leukemia, chronic neutrophilic leukemia, neutrophilic, chronic leukemia, neutrophilic, chronic [disease/finding] leukemias, chronic neutrophilic neutrophilic leukemia neutrophilic leukemia, chronic neutrophilic leukemias, chronic |
| Orphanet | |
| UMLS | C0023481 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| 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) CSF3R | 1p34.3 |
| Disease ID | 1238 |
|---|---|
| Disease | chronic neutrophilic leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1238 |
|---|---|
| Disease | chronic neutrophilic leukemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386626619 | 23391844 | 3717 | JAK2 | umls:C0023481 | BeFree | Presence of the JAK2 V617F mutation in a patient with chronic neutrophilic leukemia and effective response to interferon α-2b. | 0.001085767 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0023481 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.001085767 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 16330446 | 3717 | JAK2 | umls:C0023481 | BeFree | Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. | 0.001085767 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 17109389 | 3717 | JAK2 | umls:C0023481 | BeFree | Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infiltration after unrelated bone marrow transplantation. | 0.001085767 | 2007 | NA | NA | NA | NA | NA |
| rs77375493 | 17109389 | 3717 | JAK2 | umls:C0023481 | BeFree | Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infiltration after unrelated bone marrow transplantation. | 0.001085767 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0023481 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.001085767 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16330446 | 3717 | JAK2 | umls:C0023481 | BeFree | Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. | 0.001085767 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23391844 | 3717 | JAK2 | umls:C0023481 | BeFree | Presence of the JAK2 V617F mutation in a patient with chronic neutrophilic leukemia and effective response to interferon α-2b. | 0.001085767 | 2013 | 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 | 1238 |
|---|---|
| Disease | chronic neutrophilic leukemia |
| Case | (Waiting for update.) |