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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Parkinson's disease 2
Summary
- Synonym
-
- autosomal recessive juvenile Parkinson disease 2
- autosomal recessive juvenile Parkinson's disease 2
- Definition
- An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 | |
| O94779 | Contactin-5 | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| Q9UQ52 | Contactin-6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002172 | Postural instability |
| HP:0002578 | Gastroparesis |
| HP:0003394 | Muscle spasm |
| HP:0004409 | Hyposmia |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012452 | Restless legs |
| HP:0012760 | Reduced social reciprocity |
| HP:0100543 | Cognitive impairment |
| HP:0100660 | Dyskinesia |
| HP:0100710 | Impulsivity |
