eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| biotin-responsive basal ganglia disease | ||||
| Disease ID | 1274 |
|---|---|
| Disease | biotin-responsive basal ganglia disease |
| Synonym | basal ganglia disease, biotin-responsive bbgd biotin-thiamine-responsive basal ganglia disease biotin-thiamine-responsive basal ganglia disease (disorder) encephalopathy, thiamine-responsive thiamine metabolism dysfunction syndrome 2 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) thiamine transporter-2 deficiency thiamine-responsive encephalopathy thmd2 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1843807 |
| 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:3) |
| Locus | Symbol | Locus(Total Locus:1) SLC19A3 | 2q36.3 |
| Disease ID | 1274 |
|---|---|
| Disease | biotin-responsive basal ganglia disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1274 |
|---|---|
| Disease | biotin-responsive basal ganglia disease |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917882 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227702251 | C | T,A |
| rs121917884 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227688216 | T | C |
| rs137852957 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227702189 | T | C |
| rs137852958 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227698757 | C | G |
| rs713993048 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227702299 | G | T |
| rs786205213 | NA | 80704 | SLC19A3 | umls:C1843807 | CLINVAR | NA | 0.481900093 | NA | SLC19A3 | 2 | 227702244 | - | A |
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 | 1274 |
|---|---|
| Disease | biotin-responsive basal ganglia disease |
| Case | (Waiting for update.) |