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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 ATP2B3 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 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 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: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 LOC691137 hypothetical protein LOC691137 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr10:106,511,729...106,512,477 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 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: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 17205
    syndrome 8125
      multiple system atrophy 39
        olivopontocerebellar atrophy 20
          X-linked spinocerebellar ataxia 1 8
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            movement disease 1375
              Dyskinesias 1043
                Ataxia 482
                  hereditary ataxia 340
                    X-linked hereditary ataxia 10
                      X-linked cerebellar ataxia 8
                        X-linked spinocerebellar ataxia 1 8
paths to the root