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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 |
|---|---|---|---|
| 11343 | MGLL | monoglyceride lipase | |
| 22876 | INPP5F | inositol polyphosphate-5-phosphatase F | |
| 22933 | SIRT2 | sirtuin 2 | |
| 23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26232 | FBXO2 | F-box protein 2 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15104 | Glutamine synthetase | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19835 | Bile salt-activated lipase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0000651 | Diplopia |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000727 | Frontal lobe dementia |
| HP:0000736 | Short attention span |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
