cerebellar ataxia

Summary
Definition
A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
Super Class
cerebellar disease hereditary ataxia
External Links
Disease Ontology
DOID:0050753
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 37 in total
Gene ID Gene Symbol Description Source
2581 GALC galactosylceramidase
2592 GALT galactose-1-phosphate uridylyltransferase
2720 GLB1 galactosidase beta 1
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
4099 MAG myelin associated glycoprotein
4968 OGG1 8-oxoguanine DNA glycosylase
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
35156 L2HGDH L-2-hydroxyglutarate dehydrogenase

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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