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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: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.


show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by OMIM:603563
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Spastic paraplegia 8
ClinVar
OMIM
PMID:17160902, PMID:20833645, PMID:23455931, PMID:24759409, PMID:24824269, PMID:25741868, PMID:26467025, PMID:27957547, PMID:28492532 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 8 5
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 8 5
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.