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 91 - 100 of 164 in total
Gene ID Gene Symbol Description Source
5319 PLA2G1B phospholipase A2 group IB
5337 PLD1 phospholipase D1
5338 PLD2 phospholipase D2
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5621 PRNP prion protein (Kanno blood group)
5660 PSAP prosaposin
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
5973 RENBP renin binding protein
6319 SCD stearoyl-CoA desaturase
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

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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