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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Parkinson's disease 23
Summary
- Synonym
-
- autosomal recessive early-onset Parkinson disease 23
- autosomal recessive early-onset Parkinson's disease 23
- Definition
- An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060896
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 48 | ACO1 | aconitase 1 | |
| 50 | ACO2 | aconitase 2 | |
| 125 | ADH1B | alcohol dehydrogenase 1B (class I), beta polypeptide | |
| 126 | ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | |
| 127 | ADH4 | alcohol dehydrogenase 4 (class II), pi polypeptide | |
| 131 | ADH7 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q13393 | Phospholipase D1 | |
| Q13510 | Acid ceramidase | |
| Q14956 | Transmembrane glycoprotein NMB | |
| Q15185 | Prostaglandin E synthase 3 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q16760 | Diacylglycerol kinase delta | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q6SZW1 | NAD(+) hydrolase SARM1 | |
| Q6UWN5 | Ly6/PLAUR domain-containing protein 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001257 | Spasticity |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0002014 | Diarrhea |
| HP:0002018 | Nausea |
| HP:0002019 | Constipation |
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002141 | Gait imbalance |
