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 71 - 80 of 164 in total
Gene ID Gene Symbol Description Source
3956 LGALS1 galectin 1
3958 LGALS3 galectin 3
3960 LGALS4 galectin 4
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4099 MAG myelin associated glycoprotein
4360 MRC1 mannose receptor C-type 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4680 CEACAM6 CEA cell adhesion molecule 6
4907 NT5E 5'-nucleotidase ecto
4968 OGG1 8-oxoguanine DNA glycosylase
Related Glycoprotein
Displaying entries 131 - 132 of 132 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
Q9Y2H2 Phosphatidylinositide phosphatase SAC2
The Human Phenotype Ontology
Displaying entries 41 - 50 of 54 in total
HPO ID HPO Term
HP:0007256 Abnormal pyramidal sign
HP:0007311 Short stepped shuffling gait
HP:0008969 Leg muscle stiffness
HP:0012332 Abnormal autonomic nervous system physiology
HP:0012378 Fatigue
HP:0012444 Brain atrophy
HP:0012452 Restless legs
HP:0012638 Abnormal nervous system physiology
HP:0012760 Reduced social reciprocity
HP:0100022 Abnormality of movement
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