eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| native american myopathy | ||||
| Disease ID | 1875 |
|---|---|
| Disease | native american myopathy |
| Synonym | congenital myopathy cleft palate and malignant hyperthermia myopathy, congenital, with cleft palate and malignant hyperthermia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1850625 |
| 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) STAC3 | 12q13.3 |
| Disease ID | 1875 |
|---|---|
| Disease | native american myopathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1875 |
|---|---|
| Disease | native american 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs140291094 | NA | 246329 | STAC3 | umls:C1850625 | CLINVAR | NA | 0.360271442 | NA | STAC3 | 12 | 57244322 | 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 | 1875 |
|---|---|
| Disease | native american myopathy |
| Case | (Waiting for update.) |