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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 |
|---|---|---|---|
| 27349 | MCAT | malonyl-CoA-acyl carrier protein transacylase | |
| 51477 | ISYNA1 | inositol-3-phosphate synthase 1 | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 56963 | RGMA | repulsive guidance molecule BMP co-receptor a | |
| 57103 | TIGAR | TP53 induced glycolysis regulatory phosphatase | |
| 57704 | GBA2 | glucosylceramidase beta 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07585 | Decorin | |
| P07602 | Prosaposin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P07911 | Uromodulin | |
| P08174 | Complement decay-accelerating factor | |
| P08319 | All-trans-retinol dehydrogenase [NAD(+)] ADH4 | |
| P08559 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P08758 | Annexin A5 | |
| P09104 | Gamma-enolase |
- 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 |
