eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary neutrophilia | ||||
| Disease ID | 1968 |
|---|---|
| Disease | hereditary neutrophilia |
| Synonym | hereditary neutrophilia (disorder) hereditary neutrophilia (finding) neutrophilia, hereditary |
| Orphanet | |
| OMIM | |
| UMLS | C0543669 |
| SNOMED-CT | |
| 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 | 1968 |
|---|---|
| Disease | hereditary neutrophilia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0001433 | Enlarged liver and spleen HP:0002684 | Thickened calvarium HP:0008318 | Elevated leukocyte alkaline phosphatase HP:0002863 | Myelodysplastic syndrome |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1968 |
|---|---|
| Disease | hereditary neutrophilia |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918426 | NA | 1441 | CSF3R | umls:C0543669 | CLINVAR | NA | 0.560814326 | NA | CSF3R | 1 | 36467597 | G | T,A |
| rs121918426 | 19620628 | 1441 | CSF3R | umls:C0543669 | UNIPROT | Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder. | 0.560814326 | 2009 | CSF3R | 1 | 36467597 | G | T,A |
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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002684 | Thickened calvaria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008318 | Elevated leukocyte alkaline phosphatase | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002863 | Myelodysplasia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 1968 |
|---|---|
| Disease | hereditary neutrophilia |
| Case | (Waiting for update.) |