PedAM
Pediatric Disease Annotations & Medicines
| ataxia with isolated vitamin e deficiency | ||||
| Disease ID | 786 |
|---|---|
| Disease | ataxia with isolated vitamin e deficiency |
| Synonym | ataxia with vitamin e deficiency ataxia with vitamin e deficiency (disorder) ataxia, friedreich-like, with selective vitamin e deficiency aved familial isolated deficiency of vitamin e familial isolated vitamin e deficiency friedreich ataxia phenotype with selective vitamin e deficiency friedreich-like ataxia friedreich-like ataxia with selective vitamin e deficiency ved vitamin e, familial isolated deficiency of |
| Orphanet | |
| OMIM | |
| UMLS | C1848533 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) |
| Locus | (Waiting for update.) |
| Disease ID | 786 |
|---|---|
| Disease | ataxia with isolated vitamin e deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0002155 | Increased triglycerides HP:0001251 | Ataxia HP:0001284 | Areflexia HP:0010874 | Tendon xanthomatosis HP:0003124 | Elevated serum cholesterol HP:0003141 | Hyperbetalipoproteinemia HP:0001114 | Fatty deposits on eyelids HP:0100513 | Vitamin E deficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 786 |
|---|---|
| Disease | ataxia with isolated vitamin e deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917849 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63072990 | A | C |
| rs121917850 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63064294 | C | T |
| rs121917851 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63066056 | G | A |
| rs143010236 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63072935 | C | T |
| rs28936369 | 15065857 | 7274 | TTPA | umls:C1848533 | UNIPROT | We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients. | 0.565971721 | 2004 | NA | NA | NA | NA | NA |
| rs35916840 | 15065857 | 7274 | TTPA | umls:C1848533 | UNIPROT | We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients. | 0.565971721 | 2004 | TTPA | 8 | 63064208 | G | A |
| rs35916840 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63064208 | G | A |
| rs397515377 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63061345 | T | - |
| rs397515378 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63065970 | A | - |
| rs397515379 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63065942 | - | AA |
| rs397515522 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63085847 | G | A |
| rs397515523 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63085831 | T | C |
| rs397515524 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63066035 | C | T |
| rs397515525 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63065908 | A | G |
| rs397515526 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63061353 | C | G |
| rs748164236 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63065969 | A | - |
| rs760014795 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63086003 | G | - |
| rs786204758 | NA | 7274 | TTPA | umls:C1848533 | CLINVAR | NA | 0.565971721 | NA | TTPA | 8 | 63086020 | A | 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.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C1848533 | vitamin e | D014810 | 1406-18-4 | ataxia with vitamin e deficiency | MESH:C535393 | therapeutic | 15681888 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |