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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:spastic ataxia
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Accession:DOID:0050952 term browser browse the term
Definition:A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)
Synonyms:primary_id: MESH:C564815
 alt_id: RDO:0013648
 xref: OMIM:PS108600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29389947, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480, PMID:32488064 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,291,192...57,309,638
Ensembl chr10:57,291,192...57,309,298
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by OMIM:611302
OMIM
ClinVar
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,284,989...57,291,146
Ensembl chr10:57,284,989...57,291,146
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive
ClinVar Annotator: match by OMIM:611390
OMIM
ClinVar
PMID:22448145, PMID:25741868 NCBI chr 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive
ClinVar Annotator: match by OMIM:613672
OMIM
ClinVar
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr17:56,046,507...56,068,185
Ensembl chr17:56,046,509...56,068,125
JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive
ClinVar Annotator: match by OMIM:614487
OMIM
ClinVar
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346, PMID:32860008 NCBI chr 1:211,922,389...211,923,929
Ensembl chr 1:211,922,389...211,923,929
JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:111,354,506...111,389,998
Ensembl chr 3:111,354,506...111,389,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          spastic ataxia 26
            ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
            Charlevoix-Saguenay spastic ataxia 3
            Spastic Ataxia 9, Autosomal Recessive 1
            spastic ataxia 1 2
            spastic ataxia 2 11
            spastic ataxia 3 2
            spastic ataxia 4 1
            spastic ataxia 5 1
            spastic ataxia 7 0
            spastic ataxia 8 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  Spinocerebellar Ataxias 284
                    spastic ataxia 26
                      ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
                      Charlevoix-Saguenay spastic ataxia 3
                      Spastic Ataxia 9, Autosomal Recessive 1
                      spastic ataxia 1 2
                      spastic ataxia 2 11
                      spastic ataxia 3 2
                      spastic ataxia 4 1
                      spastic ataxia 5 1
                      spastic ataxia 7 0
                      spastic ataxia 8 1
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.