eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 5-oxoprolinase deficiency | ||||
| Disease ID | 1873 |
|---|---|
| Disease | 5-oxoprolinase deficiency |
| Synonym | 5-@oxoprolinase deficiency 5-alpha-oxoprolinase deficiency 5-oxoprolinase deficiency (disorder) oplahd oxoprolinuria due to 5-oxoprolinase deficiency oxoprolinuria due to oxoprolinase deficiency pyroglutamate hydrolase deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C0268525 |
| 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) OPLAH | 8q24.3 |
| Disease ID | 1873 |
|---|---|
| Disease | 5-oxoprolinase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1873 |
|---|---|
| Disease | 5-oxoprolinase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0268520 | 5-oxoprolinuria |
| 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 |
| rs185836803 | NA | 26873 | OPLAH | umls:C0268525 | CLINVAR | NA | 0.240542884 | NA | OPLAH | 8 | 144052487 | C | T |
| rs398122906 | NA | 26873 | OPLAH | umls:C0268525 | CLINVAR | NA | 0.240542884 | NA | OPLAH;MIR6846 | 8 | 144058129 | G | 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 | 1873 |
|---|---|
| Disease | 5-oxoprolinase deficiency |
| Case | (Waiting for update.) |