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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: Autosomal dominant spastic paraplegia;   SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY;   SPG10;   autosomal dominant spastic paraplegia 10;   autosomal dominant spastic paraplegia type 10
 primary_id: MESH:C537482
 alt_id: OMIM:604187;   RDO:0003328
 xref: GARD:9590;   ORDO:100991
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 10 term browser
Symbol Object Name 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 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Kif5a kinesin family member 5A ISO 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
ClinVar Annotator: match by OMIM:604187
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)
OMIM
ClinVar
PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21107874 PMID:21623771 PMID:22552817 PMID:24731568 PMID:25008398 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28708278 PMID:28832565 PMID:29892902 PMID:29908077 PMID:31475037, PMID:22466687, PMID:18245137, PMID:12355402, PMID:25352184, PMID:26374131, PMID:24939576, PMID:15452312 RGD:12793060, RGD:12793061, RGD:12793065, RGD:12793068, RGD:12793069, RGD:12859090, RGD:12859091 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
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 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 10 10
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 10 10
paths to the root