eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| poikiloderma with neutropenia | ||||
| Disease ID | 1577 |
|---|---|
| Disease | poikiloderma with neutropenia |
| Synonym | c16orf57 chromosome 16 open reading frame 57 flj13154 hvsl motif containing 1 hvsl1 mpn1 mutated in poikiloderma with neutropenia protein 1 u six biogenesis 1 u6 snrna biogenesis phosphodiesterase 1 usb1 usb1 gene |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1824414 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:2) |
| Locus | Symbol | Locus(Total Locus:1) USB1 | 16q21 |
| Disease ID | 1577 |
|---|---|
| Disease | poikiloderma with neutropenia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1577 |
|---|---|
| Disease | poikiloderma with neutropenia |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853970 | NA | 79650 | USB1 | umls:C1858723 | CLINVAR | NA | 0.363257302 | NA | USB1 | 16 | 58017332 | A | C |
| rs137853971 | NA | 79650 | USB1 | umls:C1858723 | CLINVAR | NA | 0.363257302 | NA | USB1 | 16 | 58014325 | A | G |
| rs137853972 | NA | 79650 | USB1 | umls:C1858723 | CLINVAR | NA | 0.363257302 | NA | USB1 | 16 | 58019045 | AGGAACTACAGG | - |
| rs786205051 | NA | 79650 | USB1 | umls:C1858723 | CLINVAR | NA | 0.363257302 | NA | ZNF319;USB1 | 16 | 58002559 | 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 | 1577 |
|---|---|
| Disease | poikiloderma with neutropenia |
| Case | (Waiting for update.) |