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hereditary spastic paraplegia 8 - Ontology Report - Rat Genome Database

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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
 broad_synonym: WASHC5-RELATED CONDITION
 primary_id: MESH:C580458
 alt_id: MIM:603563;   RDO:0002580;   RDO:0015929
 xref: GARD:9591;   ORDO:100989

 Loading Annotations... 
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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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G LOC126860498 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: WASHC5-related condition
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition		 ClinVar PMID:7604842 PMID:9536098 PMID:17576681 PMID:24065355 PMID:24215330 More... NCBI chr 8:125,031,594...125,032,793 JBrowse link
G LOC130001092 ATAC-STARR-seq lymphoblastoid silent region 19517 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar NCBI chr 8:125,091,512...125,091,681 JBrowse link
G LOC130001093 ATAC-STARR-seq lymphoblastoid active region 27899 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar NCBI chr 8:125,091,732...125,091,951 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:28492532 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: WASHC5-related condition
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 More... NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24065355 PMID:25741868 More... NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        central nervous system disease 51558
          paraplegia 903
            hereditary spastic paraplegia 631
              hereditary spastic paraplegia 8 10
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        central nervous system disease 51558
          neurodegenerative disease 12815
            Nervous System Heredodegenerative Disorders 5006
              motor peripheral neuropathy 1709
                hereditary spastic paraplegia 631
                  hereditary spastic paraplegia 8 10
paths to the root