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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 |
|---|---|---|---|
| 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 |
|---|---|---|
| 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: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 |
