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Standards Ontologies Notations
cerebellar ataxia

Summary
Definition
A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
Super Class
cerebellar disease hereditary ataxia
Disease Ontology
DOID:0050753
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
375775 PNPLA7 patatin like phospholipase domain containing 7
Displaying all 7 entries
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
50767 Pnpla6 patatin-like phospholipase domain containing 6
64009 Syne1 spectrin repeat containing, nuclear envelope 1
216766 Gemin5 gem nuclear organelle associated protein 5
234734 Aars1 alanyl-tRNA synthetase 1
271564 Vps13a vacuolar protein sorting 13A
320528 Vps13c vacuolar protein sorting 13C
Displaying 1 entry
Gene ID Gene Symbol Description Source
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
32158 cac cacophony
35156 L2HGDH L-2-hydroxyglutarate dehydrogenase
3771968 Msp300 Muscle-specific protein 300 kDa
Displaying all 2 entries
Gene ID Gene Symbol Description Source
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
Displaying 1 entry
Gene ID Gene Symbol Description Source
854943 NTE1 lysophospholipase
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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: December 9, 2024