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
Displaying entries 151 - 160 of 164 in total
Gene ID Gene Symbol Description Source
64116 SLC39A8 solute carrier family 39 member 8
64132 XYLT2 xylosyltransferase 2
65078 RTN4R reticulon 4 receptor
79154 DHRS11 dehydrogenase/reductase 11
79661 NEIL1 nei like DNA glycosylase 1
79993 ELOVL7 ELOVL fatty acid elongase 7
80270 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
80351 TNKS2 tankyrase 2
132789 GNPDA2 glucosamine-6-phosphate deaminase 2
151056 PLB1 phospholipase B1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 54 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
8867 SYNJ1 synaptojanin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024