Parkinson's disease 4

Summary
Synonym
  • autosomal dominant Lewy body Parkinson disease 4
  • autosomal dominant Parkinson disease 4
  • autosomal dominant Parkinson's disease 4
Definition
A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
Super Class
autosomal dominant disease late onset Parkinson's disease
External Links
Disease Ontology
DOID:0060895
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 131 - 140 of 164 in total
Gene ID Gene Symbol Description Source
11343 MGLL monoglyceride lipase
22876 INPP5F inositol polyphosphate-5-phosphatase F
22933 SIRT2 sirtuin 2
23098 SARM1 sterile alpha and TIR motif containing 1
23205 ACSBG1 acyl-CoA synthetase bubblegum family member 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26232 FBXO2 F-box protein 2
27036 SIGLEC7 sialic acid binding Ig like lectin 7
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
27306 HPGDS hematopoietic prostaglandin D synthase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0000338 Hypomimic face
HP:0000651 Diplopia
HP:0000713 Agitation
HP:0000716 Depression
HP:0000726 Dementia
HP:0000741 Apathy
HP:0000744 Low frustration tolerance
HP:0001268 Mental deterioration
HP:0001300 Parkinsonism
HP:0001332 Dystonia
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 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