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 51 - 60 of 164 in total
Gene ID Gene Symbol Description Source
2572 GAD2 glutamate decarboxylase 2
2581 GALC galactosylceramidase
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2629 GBA1 glucosylceramidase beta 1
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
2752 GLUL glutamate-ammonia ligase
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