eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| episodic ataxia type 6 | ||||
| Disease ID | 1774 |
|---|---|
| Disease | episodic ataxia type 6 |
| Definition | An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. |
| Synonym | episodic ataxia type 6 (disorder) episodic ataxia, type 6 episodic ataxia, type 6 (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2675211 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) SLC1A3 | 5p13.2 |
| Disease ID | 1774 |
|---|---|
| Disease | episodic ataxia type 6 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1774 |
|---|---|
| Disease | episodic ataxia type 6 |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852619 | NA | 6507 | SLC1A3 | umls:C2675211 | CLINVAR | NA | 0.480271442 | NA | SLC1A3 | 5 | 36679635 | C | G |
| rs137852620 | NA | 6507 | SLC1A3 | umls:C2675211 | CLINVAR | NA | 0.480271442 | NA | SLC1A3 | 5 | 36674080 | T | 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 | 1774 |
|---|---|
| Disease | episodic ataxia type 6 |
| Case | (Waiting for update.) |