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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 8
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Accession:DOID:0110823 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: SPG8;   Spastic Paraplegia 8;   Spg 8;   autosomal dominant spastic paraplegia 8;   autosomal dominant spastic paraplegia type 8;   spastic paraplegia type 8
 primary_id: MESH:C580458
 alt_id: OMIM:603563;   RDO:0002580;   RDO:0015929
 xref: GARD:9591;   ORDO:100989
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 8 5
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 8 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.