Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:spinocerebellar ataxia 45
go back to main search page
Accession:DOID:0080287 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: FAT2-RELATED CONDITION;   SCA45;   spinocerebellar ataxia type 45
 primary_id: MIM:617769



show annotations for term's descendants           Sort by:
spinocerebellar ataxia 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:11865300 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        neurodegenerative disease 5069
          hereditary ataxia 632
            cerebellar ataxia 482
              autosomal dominant cerebellar ataxia 91
                spinocerebellar ataxia 45 4
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            movement disease 2632
              Dyskinesias 2232
                Ataxia 957
                  Spinocerebellar Ataxias 557
                    cerebellar ataxia 482
                      autosomal dominant cerebellar ataxia 91
                        spinocerebellar ataxia 45 4
paths to the root