leukodystrophy

Summary
Definition
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
Super Class
cerebral degeneration
Disease Ontology
DOID:10579
Mondo Disease Ontology
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
16 AARS1 alanyl-tRNA synthetase 1
1181 CLCN2 chloride voltage-gated channel 2
1965 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha
1968 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
8894 EIF2S2 eukaryotic translation initiation factor 2 subunit beta
55331 ACER3 alkaline ceramidase 3
Displaying all 5 entries
Gene ID Gene Symbol Description Source
12724 Clcn2 chloride channel, voltage-sensitive 2
13665 Eif2s1 eukaryotic translation initiation factor 2, subunit 1 alpha
26905 Eif2s3x eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked
66190 Acer3 alkaline ceramidase 3
234734 Aars1 alanyl-tRNA synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
157074 Sdha succinate dehydrogenase complex flavoprotein subunit A
Displaying 1 entry
Gene ID Gene Symbol Description Source
174821 clh-1 CBS domain-containing protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
852481 YPC1 phytoceramidase
856018 YDC1 alkaline dihydroceramidase

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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