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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 spinocerebellar ataxia 1
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Accession:DOID:0111829 term browser browse the term
Definition:An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: OPCA, X-Linked;   OPCAX;   Olivopontocerebellar Atrophy, X-Linked;   SCAX1;   X-linked progressive cerebellar ataxia;   X-linked spinocerebellar ataxia
 primary_id: MESH:C563134
 alt_id: OMIM:302500
 xref: ORDO:1175


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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:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia		 OMIM
CTD
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      multiple system atrophy 41
        olivopontocerebellar atrophy 22
          X-linked spinocerebellar ataxia 1 7
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Ataxia 962
                  hereditary ataxia 640
                    X-linked hereditary ataxia 9
                      X-linked cerebellar ataxia 7
                        X-linked spinocerebellar ataxia 1 7
paths to the root