Parkinson's disease 23

Summary
Synonym
  • autosomal recessive early-onset Parkinson disease 23
  • autosomal recessive early-onset Parkinson's disease 23
Definition
An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
Super Class
autosomal recessive disease early-onset Parkinson's disease
External Links
Disease Ontology
DOID:0060896
Mondo Disease Ontology
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 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0000651 Diplopia
HP:0000713 Agitation
HP:0000716 Depression
HP:0000726 Dementia
HP:0000727 Frontal lobe dementia
HP:0000736 Short attention span
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0000741 Apathy
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