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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 hereditary ataxia
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Accession:DOID:0050953 term browser browse the term
Definition:A hereditary ataxia that is characterized by X-linked inheritance. (DO)
For additional species annotation, visit the Alliance of Genome Resources.

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fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 FMRP translational regulator 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism		 OMIM
CTD		 PMID:27385396, PMID:15876460 RGD:12050151 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          hereditary ataxia 224
            X-linked hereditary ataxia 9
              X-linked cerebellar ataxia + 7
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Dyskinesias 795
                Ataxia 341
                  hereditary ataxia 224
                    X-linked hereditary ataxia 9
                      X-linked cerebellar ataxia + 7
                      fragile X-associated tremor/ataxia syndrome 2
paths to the root