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
Accession: DOID:0050953
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 .
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all