eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| orotic aciduria | ||||
| Disease ID | 1539 |
|---|---|
| Disease | orotic aciduria |
| Definition | excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase. |
| Synonym | acidurias orotic deficiency of orotate phosphoribosyltransferase deficiency of orotate phosphoribosyltransferase (disorder) deficiency of orotidine-5'-phosphate pyrophosphorylase deficiency of orotidylic acid phosphorylase high urine orotic acid levels orotate phosphoribosyltransferase deficiency orotic aciduria (disorder) orotic aciduria, nos oroticaciduria oroticaciduria (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268128 |
| SNOMED-CT | |
| 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:12) 10157 | AASS | 4.518 | DISEASES 60 | ACTB | 1.335 | DISEASES 353 | APRT | 2.818 | DISEASES 522 | ATP5J | 2.987 | DISEASES 1806 | DPYD | 2.048 | DISEASES 4352 | MPL | 1.861 | DISEASES 6906 | SERPINA7 | 2.14 | DISEASES 116085 | SLC22A12 | 2.594 | DISEASES 10165 | SLC25A13 | 2.483 | DISEASES 788 | SLC25A20 | 2.962 | DISEASES 23428 | SLC7A8 | 3.917 | DISEASES 51733 | UPB1 | 3.951 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1539 |
|---|---|
| Disease | orotic aciduria |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1539 |
|---|---|
| Disease | orotic aciduria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0086438 | hypogammaglobulinemia |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917890 | NA | 7372 | UMPS | umls:C0268128 | CLINVAR | NA | 0.120271442 | NA | UMPS | 3 | 124735222 | A | G |
| rs121917891 | NA | 7372 | UMPS | umls:C0268128 | CLINVAR | NA | 0.120271442 | NA | UMPS | 3 | 124743926 | G | C |
| rs121917892 | NA | 7372 | UMPS | umls:C0268128 | CLINVAR | NA | 0.120271442 | NA | UMPS | 3 | 124737583 | T | G |
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 | 1539 |
|---|---|
| Disease | orotic aciduria |
| Case | (Waiting for update.) |