| HGNC Family | Ataxins (ATXN) |
| Name | ataxin 8 |
| Description | Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] |
| Proteins | ATX8_HUMAN |
| NCBI Gene ID | 724066 |
| API | |
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ATXN8 has 149 functional associations with biological entities spanning 2 categories (disease, phenotype or trait, functional term, phrase or reference) extracted from 8 datasets.
Click the + buttons to view associations for ATXN8 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| CTD Gene-Disease Associations | diseases associated with ATXN8 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with ATXN8 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with ATXN8 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GAD Gene-Disease Associations | diseases associated with ATXN8 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with ATXN8 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with ATXN8 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with ATXN8 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with ATXN8 gene from the curated OMIM Gene-Disease Associations dataset. | |
