Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Summary
- Synonym
-
- ALSFTD
- FTDALS1
- FTDMND
- amyotrophic lateral sclerosis and/or frontotemporal dementia
- frontotemporal dementia and/or motor neuron disease
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060213
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96LT7 | Guanine nucleotide exchange factor C9orf72 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002145 | Frontotemporal dementia |
| HP:0001260 | Dysarthria |
| HP:0002380 | Fasciculations |
| HP:0000716 | Depression |
| HP:0002283 | Global brain atrophy |
| HP:0002015 | Dysphagia |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0002186 | Apraxia |
| HP:0001283 | Bulbar palsy |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
