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 101 - 110 of 164 in total
Gene ID Gene Symbol Description Source
6470 SHMT1 serine hydroxymethyltransferase 1
6472 SHMT2 serine hydroxymethyltransferase 2
6476 SI sucrase-isomaltase
6517 SLC2A4 solute carrier family 2 member 4
6609 SMPD1 sphingomyelin phosphodiesterase 1
6610 SMPD2 sphingomyelin phosphodiesterase 2
6646 SOAT1 sterol O-acyltransferase 1
6888 TALDO1 transaldolase 1
6900 CNTN2 contactin 2
7086 TKT transketolase
The Human Phenotype Ontology
Displaying entry 31 - 31 of 31 in total
HPO ID HPO Term
HP:0100785 Insomnia
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