eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tubular aggregate myopathy | ||||
| Disease ID | 1280 |
|---|---|
| Disease | tubular aggregate myopathy |
| Synonym | aggregate myopathies, tubular aggregate myopathy, tubular myopathies, tubular aggregate myopathy with tubular aggregates myopathy with tubular aggregates (disorder) myopathy, tubular aggregate tubular aggregate myopathies tubular aggregates myopathy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0410207 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 58 | ACTA1 | 2.458 | DISEASES 487 | ATP2A1 | 3.346 | DISEASES 811 | CALR | 1.782 | DISEASES 55636 | CHD7 | 2.523 | DISEASES 285489 | DOK7 | 3.22 | DISEASES 2010 | EMD | 2.395 | DISEASES 2318 | FLNC | 1.984 | DISEASES 2993 | GYPA | 2.333 | DISEASES 84876 | ORAI1 | 5.651 | DISEASES 6261 | RYR1 | 2.385 | DISEASES 51150 | SDF4 | 2.572 | DISEASES 6345 | SRL | 4.695 | DISEASES 57620 | STIM2 | 3.603 | DISEASES 10345 | TRDN | 4.196 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1280 |
|---|---|
| Disease | tubular aggregate myopathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1280 |
|---|---|
| Disease | tubular aggregate myopathy |
| 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 |
| rs397514675 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 3967663 | A | G |
| rs397514676 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 4023927 | C | A |
| rs397514677 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 4023928 | A | G |
| rs397515436 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 3967628 | C | A |
| rs527236030 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 4023945 | A | T |
| rs748277951 | NA | 6786 | STIM1 | umls:C0410207 | CLINVAR | NA | 0.241357209 | NA | STIM1 | 11 | 3967651 | A | C,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 | 1280 |
|---|---|
| Disease | tubular aggregate myopathy |
| Case | (Waiting for update.) |