Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Parkinson's disease 19A
Summary
- Synonym
-
- juvenile onset Parkinson disease 19A
- juvenile onset Parkinson's disease 19A
- Definition
- An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060891
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5279 | PIGC | phosphatidylinositol glycan anchor biosynthesis class C | |
| 5287 | PIK3C2B | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting |
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:0002322 | Resting tremor |
| HP:0002362 | Shuffling gait |
| HP:0002425 | Anarthria |
| HP:0002540 | Inability to walk |
| HP:0002578 | Gastroparesis |
| HP:0002650 | Scoliosis |
| HP:0003394 | Muscle spasm |
| HP:0004305 | Involuntary movements |
| HP:0004409 | Hyposmia |
| HP:0007164 | Slowed slurred speech |
