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 11 - 20 of 164 in total
Gene ID Gene Symbol Description Source
308 ANXA5 annexin A5
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
683 BST1 bone marrow stromal cell antigen 1
811 CALR calreticulin
847 CAT catalase
929 CD14 CD14 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
Related Glycoprotein
Displaying entries 131 - 132 of 132 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
Q9Y2H2 Phosphatidylinositide phosphatase SAC2
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