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 |
|---|---|---|---|
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2026 | ENO2 | enolase 2 | |
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2194 | FASN | fatty acid synthase | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2571 | GAD1 | glutamate decarboxylase 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:0000741 | Apathy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001265 | Hyporeflexia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001621 | Weak voice |
