autosomal dominant cerebellar ataxia

Summary
Synonym
  • spinocerebellar ataxia
Definition
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
Super Class
autosomal dominant disease cerebellar ataxia
External Links
Disease Ontology
DOID:1441
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying entries 11 - 20 of 20 in total
Gene ID Gene Symbol Description Source
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
10724 OGA O-GlcNAcase
10908 PNPLA6 patatin like phospholipase domain containing 6
11181 TREH trehalase
27306 HPGDS hematopoietic prostaglandin D synthase
55304 SPTLC3 serine palmitoyltransferase long chain base subunit 3
60481 ELOVL5 ELOVL fatty acid elongase 5
151056 PLB1 phospholipase B1
152330 CNTN4 contactin 4
285362 SUMF1 sulfatase modifying factor 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