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Repository for lectin-assisted multimodality data
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MIRAGE
amyotrophic lateral sclerosis type 10
Summary
- Synonym
-
- ALS10
- TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
- amyotrophic lateral sclerosis 10
- amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
- Super Class
- amyotrophic lateral sclerosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13148 | TAR DNA-binding protein 43 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001283 | Bulbar palsy |
| HP:0002300 | Mutism |
| HP:0002015 | Dysphagia |
| HP:0002127 | Abnormal upper motor neuron morphology |
| HP:0002380 | Fasciculations |
| HP:0000708 | Atypical behavior |
| HP:0002171 | Gliosis |
| HP:0003701 | Proximal muscle weakness |
| HP:0008322 | Abnormal mitochondrial morphology |
| HP:0001300 | Parkinsonism |
