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 21 - 30 of 164 in total
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
1103 CHAT choline O-acetyltransferase
1116 CHI3L1 chitinase 3 like 1
1118 CHIT1 chitinase 1
1272 CNTN1 contactin 1
1312 COMT catechol-O-methyltransferase
1497 CTNS cystinosin, lysosomal cystine transporter
1543 CYP1A1 cytochrome P450 family 1 subfamily A member 1
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0001257 Spasticity
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001347 Hyperreflexia
HP:0002014 Diarrhea
HP:0002018 Nausea
HP:0002019 Constipation
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002141 Gait imbalance
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