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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:autosomal recessive spinocerebellar ataxia 8
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Accession:DOID:0111618 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)
Synonyms:exact_synonym: Arca1;   Autosomal Recessive Cerebellar Ataxia Type 1;   SCAR8;   SYNE1-related autosomal recessive cerebellar ataxia;   autosomal recessive ataxia, Beauce type;   recessive ataxia of Beauce
 primary_id: MESH:C565188
 alt_id: MESH:C579934;   MIM:610743
 xref: GARD:12234;   ORDO:88644


show annotations for term's descendants           Sort by:
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,601,412...44,607,781
Ensembl chr 1:44,601,412...44,607,781 		JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:44,615,921...44,626,178 		JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:44,423,544...44,436,992 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:10080174 PMID:22644603 PMID:25326637 PMID:25741868 PMID:26345448 More... NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:210,729,858...210,734,949 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:24556926 PMID:25085752 PMID:25326637 PMID:25741868 PMID:26283626 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:44,632,964...44,729,945 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 		OMIM
CTD
ClinVar
RGD		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... RGD:13209001 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:43,895,994...44,388,721 		JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        neurodegenerative disease 5086
          hereditary ataxia 633
            cerebellar ataxia 483
              autosomal recessive cerebellar ataxia 173
                autosomal recessive spinocerebellar ataxia 8 10
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                Ataxia 954
                  Spinocerebellar Ataxias 559
                    cerebellar ataxia 483
                      autosomal recessive cerebellar ataxia 173
                        autosomal recessive spinocerebellar ataxia 8 10
paths to the root