eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scapuloperoneal spinal muscular atrophy | ||||
| Disease ID | 1967 |
|---|---|
| Disease | scapuloperoneal spinal muscular atrophy |
| Synonym | amyotrophy, neurogenic scapuloperoneal, new england type scapuloperoneal form of spinal muscular atrophy scapuloperoneal spinal muscular atrophy (disorder) spinal muscular atrophy, scapuloperoneal spinal muscular atrophy, scapuloperoneal form spsma |
| Orphanet | |
| OMIM | |
| UMLS | C0751335 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TRPV4 | 12q24.11 |
| Disease ID | 1967 |
|---|---|
| Disease | scapuloperoneal spinal muscular atrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1967 |
|---|---|
| Disease | scapuloperoneal spinal muscular atrophy |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267607143 | NA | 59341 | TRPV4 | umls:C0751335 | CLINVAR | NA | 0.480542884 | NA | TRPV4 | 12 | 109798823 | G | A |
| rs267607145 | NA | 59341 | TRPV4 | umls:C0751335 | CLINVAR | NA | 0.480542884 | NA | TRPV4 | 12 | 109798820 | G | A |
| rs267607146 | NA | 59341 | TRPV4 | umls:C0751335 | CLINVAR | NA | 0.480542884 | NA | TRPV4 | 12 | 109800666 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007269 | Spinal muscular atrophy | MP:0009413 | skeletal muscle fiber atrophy | acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
| HP:0009049 | Peroneal muscle atrophy | MP:0009420 | skeletal muscle endomysial fibrosis | replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009049 | Peroneal muscle atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007269 | Spinal muscular atrophy | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0009060 | Scapular muscle atrophy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| Disease ID | 1967 |
|---|---|
| Disease | scapuloperoneal spinal muscular atrophy |
| Case | (Waiting for update.) |