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
Accession: DOID:0110763
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 .
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
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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
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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:28832565 PMID:29892902 PMID:29908077 , 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
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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
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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
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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
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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
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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
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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
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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
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