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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
 xref: MIM:PS108600


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)
ClinVar Annotator: match by term: Spastic ataxia		 RGD
ClinVar		 PMID:22022284 PMID:25741868 RGD:11532672 NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:84,735,253...84,774,554
Ensembl chr 6:84,735,253...84,802,456 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:110,493,490...110,505,123
Ensembl chr 4:110,493,492...110,505,138 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064 		JBrowse link
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000 		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 chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856 		JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808 		JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,460...155,374,399 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,140,627 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G EXOSC8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr11:12,817,081...12,825,847
Ensembl chr11:12,817,110...12,825,843 		JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,818 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432 		JBrowse link
G LYST lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,433,163...55,634,011
Ensembl chr14:55,433,597...55,633,484 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,396...40,789,061 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr12:53,979,206...54,046,927
Ensembl chr12:53,979,207...54,054,490 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858 		JBrowse link
G PUM1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:87,546,388...87,687,483
Ensembl chr 6:87,547,320...87,687,442 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 8:19,097,788...19,162,246
Ensembl chr 8:19,097,456...19,136,222 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:21,873,691...21,965,315
Ensembl chr16:21,873,691...21,964,990 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr 2:115,529,662...115,555,441
Ensembl chr 2:115,529,704...115,555,440 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196 NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16534102 PMID:17661097 PMID:18200586 PMID:18799786 PMID:20186691 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chr 1:13,715,644...14,201,711 JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		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 ISO OMIM:270550 MouseDO NCBI chr12:50,167,959...50,251,861
Ensembl chr12:50,168,049...50,251,768 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay OMIM
ClinVar		 PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,310,280...2,380,054 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		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 Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 5:64,181,496...64,188,275 JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 More... NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343 		JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608 NCBI chr 1:268,745,815...268,757,771
Ensembl chr 1:268,746,329...268,757,494 		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: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,931,794...51,948,703
Ensembl chr12:51,931,802...51,948,705 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,999,504...52,016,592
Ensembl chr12:52,011,250...52,016,299 		JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,954,614...51,959,991
Ensembl chr12:51,954,613...51,961,496 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757 		JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,923,764...51,931,875
Ensembl chr12:51,924,902...51,931,873 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432 		JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464 		JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,966,028...51,970,811
Ensembl chr12:51,966,032...51,970,898 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,970,794...51,973,668
Ensembl chr12:51,970,806...51,975,548 		JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,948,788...51,953,587
Ensembl chr12:51,948,722...51,953,585 		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: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr15:101,508,668...101,524,076
Ensembl chr15:101,510,638...101,512,419 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		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: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,396...40,789,061 		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 OMIM
ClinVar		 PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 More... NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,662 		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:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr14:140,895,622...140,899,114
Ensembl chr14:140,897,874...140,899,155 		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 1:130,073,919...130,112,461
Ensembl chr 1:130,073,928...130,112,751 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    Developmental Disease 13502
      Neurodevelopmental Disorders 6773
        intellectual disability 4277
          spastic ataxia 82
            ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
            Charlevoix-Saguenay spastic ataxia 4
            Spastic Ataxia 10, Autosomal Recessive 2
            Spastic Ataxia 9, Autosomal Recessive 1
            spastic ataxia 1 2
            spastic ataxia 2 10
            spastic ataxia 3 2
            spastic ataxia 4 1
            spastic ataxia 5 2
            spastic ataxia 7 0
            spastic ataxia 8 1
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      nervous system disease 13259
        central nervous system disease 11851
          brain disease 11123
            movement disease 2513
              Dyskinesias 2139
                Ataxia 912
                  hereditary ataxia 618
                    spastic ataxia 82
                      ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
                      Charlevoix-Saguenay spastic ataxia 4
                      Spastic Ataxia 10, Autosomal Recessive 2
                      Spastic Ataxia 9, Autosomal Recessive 1
                      spastic ataxia 1 2
                      spastic ataxia 2 10
                      spastic ataxia 3 2
                      spastic ataxia 4 1
                      spastic ataxia 5 2
                      spastic ataxia 7 0
                      spastic ataxia 8 1
paths to the root