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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 |
|---|---|---|---|
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7369 | UMOD | uromodulin | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8527 | DGKD | diacylglycerol kinase delta | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8987 | STBD1 | starch binding domain 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P29401 | Transketolase | |
| P30101 | Protein disulfide-isomerase A3 | |
| P32004 | Neural cell adhesion molecule L1 | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P34897 | Serine hydroxymethyltransferase, mitochondrial | |
| P34913 | Bifunctional epoxide hydrolase 2 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P35475 | Alpha-L-iduronidase | |
| P35610 | Sterol O-acyltransferase 1 | |
| P36222 | Chitinase-3-like protein 1 |
- 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 |
