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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked cerebellar ataxia
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Accession:DOID:0111828 term browser browse the term
Definition:A hereditary ataxia characterized by X-linked inheritance. (DO)
Synonyms:xref: ORDO:247765
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10797423, PMID:22912398, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,895,202...71,980,019 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        neurodegenerative disease 3201
          hereditary ataxia 281
            X-linked hereditary ataxia 9
              X-linked cerebellar ataxia 7
                X-linked spinocerebellar ataxia 1 7
                X-linked spinocerebellar ataxia 2 0
                X-linked spinocerebellar ataxia 3 0
                X-linked spinocerebellar ataxia 4 0
                X-linked spinocerebellar ataxia 5 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  hereditary ataxia 281
                    X-linked hereditary ataxia 9
                      X-linked cerebellar ataxia 7
                        X-linked spinocerebellar ataxia 1 7
                        X-linked spinocerebellar ataxia 2 0
                        X-linked spinocerebellar ataxia 3 0
                        X-linked spinocerebellar ataxia 4 0
                        X-linked spinocerebellar ataxia 5 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.