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 11 - 20 of 164 in total
Gene ID Gene Symbol Description Source
308 ANXA5 annexin A5
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
683 BST1 bone marrow stromal cell antigen 1
811 CALR calreticulin
847 CAT catalase
929 CD14 CD14 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024