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hereditary spastic paraplegia 10 - 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 10
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Accession:DOID:0110763 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: SPG10;   autosomal dominant spastic paraplegia 10;   autosomal dominant spastic paraplegia type 10;   spastic paraplegia 10 with or without peripheral neuropathy
 broad_synonym: autosomal dominant spastic paraplegia
 primary_id: MESH:C537482
 alt_id: MIM:604187
 xref: GARD:9590;   ORDO:100991

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show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:94,113,149...94,210,955
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:71,720,486...71,736,999
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation:cds:p.R280C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant		 CTD
ClinVar
OMIM
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12793061, RGD:12793065, RGD:12793068, RGD:12793069, RGD:12859090, RGD:12859091 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:115,608,221...116,010,503
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:250,929,110...250,952,481
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          paraplegia 704
            hereditary spastic paraplegia 466
              hereditary spastic paraplegia 10 11
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          neurodegenerative disease 5076
            Nervous System Heredodegenerative Disorders 3369
              motor peripheral neuropathy 1303
                hereditary spastic paraplegia 466
                  hereditary spastic paraplegia 10 11
paths to the root