ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Spinocerebellar Ataxia 8
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Accession:DOID:9001315 term browser browse the term
Synonyms:exact_synonym: Arca1;   Autosomal Recessive Cerebellar Ataxia Type 1;   Recessive Ataxia of Beauce;   SCAR8
 primary_id: MESH:C565188;   MESH:C579934
 alt_id: OMIM:610743;   RDO:0013904;   RDO:0015865
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Autosomal Recessive Spinocerebellar Ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Fbxo5 F-box protein 5 JBrowse link 1 42,461,277 42,467,646 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Mtrf1l mitochondrial translational release factor 1-like JBrowse link 1 42,475,791 42,485,999 RGD:8554872
G Myct1 myc target 1 JBrowse link 1 42,121,572 42,132,131 RGD:8554872
G Rgs17 regulator of G-protein signaling 17 JBrowse link 1 42,491,566 42,587,735 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
RGD:13209001
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        neurodegenerative disease 2536
          hereditary ataxia 194
            autosomal recessive cerebellar ataxia 69
              Autosomal Recessive Spinocerebellar Ataxia 8 9
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  hereditary ataxia 194
                    cerebellar ataxia 178
                      autosomal recessive cerebellar ataxia 69
                        Autosomal Recessive Spinocerebellar Ataxia 8 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.