eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neutrophil immunodeficiency syndrome | ||||
| Disease ID | 1491 |
|---|---|
| Disease | neutrophil immunodeficiency syndrome |
| Definition | Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/neutrophil immunodeficiency syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1842398 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) RAC2 | 22q13.1 |
| Disease ID | 1491 |
|---|---|
| Disease | neutrophil immunodeficiency syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0011990 | Abnormality of neutrophil physiology HP:0001974 | Leukocytosis HP:0001058 | Poor wound healing HP:0002721 | Immunodeficiency |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1491 |
|---|---|
| Disease | neutrophil immunodeficiency syndrome |
| 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 |
| rs74315507 | NA | 5880 | RAC2 | umls:C1842398 | CLINVAR | NA | 0.482638474 | NA | RAC2 | 22 | 37232857 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001058 | Poor wound healing | MP:0002999 | abnormal bone healing | defects in the restoration of integrity to bone after trauma |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001058 | Poor wound healing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1491 |
|---|---|
| Disease | neutrophil immunodeficiency syndrome |
| Case | (Waiting for update.) |