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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:Spinocerebellar Ataxias
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Accession:DOID:9002121 term browser browse the term
Definition:A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Synonyms:exact_synonym: cerebellar degeneration with slow eye movements;   dominantly inherited spinocerebellar ataxias;   dominantly-inherited spinocerebellar ataxia;   spinocerebellar ataxia;   spinocerebellar atrophies;   spinocerebellar atrophy
 narrow_synonym: SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13;   SPINOCEREBELLAR ATAXIA, DOMINANT;   spinocerebellar ataxia, recessive
 primary_id: MESH:D020754
For additional species annotation, visit the Alliance of Genome Resources.


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Spinocerebellar Ataxias 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 IAGP
EXP
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20208537, PMID:26467025 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
JBrowse link
G ANO10 anoctamin 10 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
JBrowse link
G ATXN1 ataxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11719269, PMID:16122429, PMID:17322884, PMID:18337722 NCBI chr 6:16,299,112...16,761,490
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G ATXN10 ataxin 10 susceptibility IAGP DNA:repeat:intron 9 RGD PMID:11017075 RGD:1599410 NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307
JBrowse link
G ATXN1L ataxin 1 like EXP CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr16:71,845,976...71,857,328
Ensembl chr16:71,845,976...71,885,268
JBrowse link
G ATXN2 ataxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19224595, PMID:20065139 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN7 ataxin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A onset IAGP
EXP
IEP
DNA:repeats:cds:
CTD Direct Evidence: marker/mechanism
protein:altered expression:Purkinje cell:
CTD PMID:11985388, PMID:16899342, PMID:10945665, PMID:8988170, PMID:10369863 RGD:1358570, RGD:10054466, RGD:10054421 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
JBrowse link
G CASP7 caspase 7 IDA RGD PMID:17646170 RGD:5684537 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G CCDC88C coiled-coil domain containing 88C EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
JBrowse link
G CIC capicua transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar PMID:18414213, PMID:24033266, PMID:24136616, PMID:25741868, PMID:26100331, PMID:26344056, PMID:26378787, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179
JBrowse link
G FGF14 fibroblast growth factor 14 IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457
JBrowse link
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:92,303,622...93,810,415
Ensembl chr 4:92,303,966...93,810,157
JBrowse link
G GRM1 glutamate metabotropic receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar PMID:21367767, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29925855 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
JBrowse link
G KAT2A lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr17:42,113,111...42,121,367
Ensembl chr17:42,113,111...42,121,367
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:18412265, PMID:18688798, PMID:18716801, PMID:18781329, PMID:19699188, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr12:40,224,890...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MME membrane metalloendopeptidase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G NOP56 NOP56 ribonucleoprotein EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
JBrowse link
G OPTN optineurin IEP protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PDYN prodynorphin IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
JBrowse link
G PDYN-AS1 PDYN antisense RNA 1 IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr20:1,947,210...2,007,517
Ensembl chr20:1,947,246...2,030,028
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:17436221, PMID:18546365, PMID:19364868, PMID:19762913, PMID:20176107, PMID:21880868, PMID:24091540, PMID:25741868, PMID:28492532 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP
EXP
DNA:repeat, SNPs, haplotype:multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:18940801, PMID:20629122 RGD:5686297 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,581,146...147,084,784
JBrowse link
G PRKCG protein kinase C gamma IAGP
EXP
DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:20398063, PMID:12644968 RGD:737790 NCBI chr19:53,882,197...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G RBM17 RNA binding motif protein 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr10:6,089,034...6,117,447
Ensembl chr10:6,089,034...6,117,457
JBrowse link
G RUBCN rubicon autophagy regulator EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:197,668,867...197,749,727
Ensembl chr 3:197,668,867...197,749,727
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:65,525,081...65,538,710
Ensembl chr11:65,525,077...65,538,704
JBrowse link
G SNX14 sorting nexin 14 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,505,496...85,594,156
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP
EXP
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17940722, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:66,682,496...66,729,361
Ensembl chr11:66,682,497...66,729,226
Ensembl chr11:66,682,497...66,729,226
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
G SYT14 synaptotagmin 14 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:209,938,165...210,171,389
Ensembl chr 1:209,900,923...210,171,389
JBrowse link
G TBP TATA-box binding protein onset ISO
IAGP
DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) RGD PMID:21705419, PMID:11448935 RGD:5684014, RGD:5684015 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930
JBrowse link
G TGM6 transglutaminase 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:26467025, PMID:28492532 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP
EXP
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18037885 NCBI chr15:42,738,730...42,920,995
Ensembl chr15:42,738,730...42,920,809
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
JBrowse link
G VWA3B von Willebrand factor A domain containing 3B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:98,087,167...98,330,682
Ensembl chr 2:98,087,116...98,313,299
JBrowse link
G WWOX WW domain containing oxidoreductase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...79,212,667
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V ClinVar
OMIM
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,709...180,989,774
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ATM ATM serine/threonine kinase ISO
IAGP
EXP
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Louis-Bar syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
DNA:deletion:exon:
ClinVar
CTD
OMIM
PMID:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14627829, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25326637, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28119368, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30181556, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30541756, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31227566, PMID:31263571, PMID:31341520, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31871109, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32325837, PMID:32488064, PMID:32566746, PMID:32860008, PMID:197781682, PMID:19626507, PMID:28007901 RGD:10053611, RGD:12879399 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G BAK1 BCL2 antagonist/killer 1 IAGP DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,572,552...33,580,296
Ensembl chr 6:33,572,547...33,580,293
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility IAGP DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIK BCL2 interacting killer susceptibility IAGP DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:43,110,750...43,129,712
Ensembl chr22:43,110,750...43,129,712
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14627829, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31341520, PMID:31843900, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32566746, PMID:32860008 NCBI chr11:108,308,519...108,469,832
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G HDAC4 histone deacetylase 4 treatment IEP
IDA
ISO
protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G IFNG interferon gamma IDA RGD PMID:6432389 RGD:8693328 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:6432389 RGD:8693328 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL6 interleukin 6 severity IEP RGD PMID:26851119 RGD:11529801 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr11:108,155,280...108,222,638
Ensembl chr11:108,157,215...108,222,638
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR548L microRNA 548l IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:28492532 NCBI chr11:94,466,495...94,466,580
Ensembl chr11:94,466,495...94,466,580
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr11:94,415,570...94,512,701
Ensembl chr11:94,415,578...94,493,908
Ensembl chr11:94,415,578...94,493,908
JBrowse link
G PCNA proliferating cell nuclear antigen EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin susceptibility IAGP DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
ClinVar
OMIM
PMID:11176957, PMID:11294920, PMID:11586299, PMID:11586300, PMID:12196655, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:12196655, PMID:21465257, PMID:17572444 RGD:1599207, RGD:10054301, RGD:10054300 NCBI chr 9:32,883,872...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 9:32,883,872...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar
OMIM
PMID:14770181, PMID:15106121, PMID:15732101, PMID:17159128, PMID:18058631, PMID:18414213, PMID:18625865, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:22088787, PMID:23129421, PMID:23757202, PMID:23806086, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26257172, PMID:26467025, PMID:26601740, PMID:26633545, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28832565, PMID:29650794, PMID:30311386 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3 ClinVar
OMIM
PMID:22065524 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712
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 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 ClinVar
OMIM
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 NCBI chr11:108,308,519...108,469,832
Ensembl chr11:108,308,519...108,467,531
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar
OMIM
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:15574463, PMID:16858402, PMID:18652530, PMID:18854157, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:21252998, PMID:21324166, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24332946, PMID:24549055, PMID:24733832, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27124789, PMID:27153395, PMID:27329137, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28559769, PMID:28849312, PMID:29170652, PMID:29348823, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr11:94,415,570...94,512,701
Ensembl chr11:94,415,578...94,493,908
Ensembl chr11:94,415,578...94,493,908
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 ClinVar
OMIM
PMID:24911150 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant ClinVar
OMIM
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO10 anoctamin 10 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25664549, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213, PMID:22036850, PMID:24164873, PMID:25741868, PMID:26467025, PMID:26640698, PMID:28492532 NCBI chr 1:226,939,339...226,987,544
Ensembl chr 1:226,897,536...226,987,545
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025, PMID:28492532 NCBI chr11:66,682,496...66,729,361
Ensembl chr11:66,682,497...66,729,226
Ensembl chr11:66,682,497...66,729,226
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980, PMID:24033266, PMID:25843669, PMID:26467025, PMID:27782104 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr14:89,954,923...90,044,768
Ensembl chr14:89,954,939...90,044,764
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO10 anoctamin 10 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10 ClinVar
OMIM
PMID:21092923, PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25425649, PMID:25664549, PMID:25730773, PMID:25741868, PMID:26467025, PMID:27091155, PMID:27142713, PMID:27270446, PMID:28492532 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYT14 synaptotagmin 14 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 11 ClinVar
OMIM
PMID:21835308 NCBI chr 1:209,938,165...210,171,389
Ensembl chr 1:209,900,923...210,171,389
JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar PMID:24369382, PMID:28492532, PMID:32214227 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar
OMIM
PMID:17470496, PMID:24369382, PMID:25411445, PMID:25741868, PMID:28492532, PMID:29358611, PMID:32214227 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...79,212,667
JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRM1 glutamate metabotropic receptor 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 13 OMIM
ClinVar
PMID:25741868, PMID:25741889, PMID:26467025 NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14 ClinVar
OMIM
PMID:17940722, PMID:23236289, PMID:23838597, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr11:66,682,496...66,729,361
Ensembl chr11:66,682,497...66,729,226
Ensembl chr11:66,682,497...66,729,226
JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 15 OMIM
ClinVar
PMID:20826435, PMID:23728897, PMID:25741868, PMID:28492532, PMID:30237576, PMID:32450808 NCBI chr 3:197,668,867...197,749,727
Ensembl chr 3:197,668,867...197,749,727
JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16 ClinVar PMID:24113144, PMID:24742043, PMID:25741868 NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16 ClinVar
OMIM
PMID:24113144, PMID:24312598, PMID:24742043, PMID:25258038, PMID:25741868 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 17 ClinVar
OMIM
PMID:15981765, PMID:18414213, PMID:25361784, PMID:25741868, PMID:26197978, PMID:27016154 NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRID2 glutamate ionotropic receptor delta type subunit 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 18 ClinVar
OMIM
PMID:23611888, PMID:24078737, PMID:25741868 NCBI chr 4:92,303,622...93,810,415
Ensembl chr 4:92,303,966...93,810,157
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 IAGP ClinVar Annotator: match by term: Lichtenstein-knorr syndrome ClinVar
OMIM
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 2 ClinVar
OMIM
PMID:10528257, PMID:25808372, PMID:26657514 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G SNX14 sorting nexin 14 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar
OMIM
PMID:24501761, PMID:25439728, PMID:25741868, PMID:25848753, PMID:27913285 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,505,496...85,594,156
JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868, PMID:29419818, PMID:32860008 NCBI chr11:65,525,081...65,538,710
Ensembl chr11:65,525,077...65,538,704
JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA3B von Willebrand factor A domain containing 3B IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 ClinVar
OMIM
PMID:26157035 NCBI chr 2:98,087,167...98,330,682
Ensembl chr 2:98,087,116...98,313,299
JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDP2 tyrosyl-DNA phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 ClinVar
OMIM
PMID:24658003, PMID:30109272 NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 ClinVar PMID:26872069 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 ClinVar
OMIM
PMID:26872069 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG5 autophagy related 5 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ClinVar
OMIM
PMID:15981765, PMID:26812546 NCBI chr 6:106,184,476...106,325,789
Ensembl chr 6:106,045,423...106,325,791
JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC1 X-ray repair cross complementing 1 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 ClinVar
OMIM
PMID:28002403 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,040...43,580,473
Ensembl chr19:43,543,040...43,580,473
JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar
PMID:30084953 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THG1L tRNA-histidine guanylyltransferase 1 like IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM
ClinVar
PMID:1168944, PMID:27307223 NCBI chr 5:157,731,420...157,741,449
Ensembl chr 5:157,731,420...157,741,449
JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835, PMID:25741868, PMID:28492532, PMID:29518281, PMID:29604224 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPP1 tripeptidyl peptidase 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar
OMIM
PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15317752, PMID:15520412, PMID:18684116, PMID:20340139, PMID:22612257, PMID:23418007, PMID:23539563, PMID:25356970, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25326637, PMID:28492532 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G ESR1 estrogen receptor 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FBXO5 F-box protein 5 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,970,535...152,983,579
Ensembl chr 6:152,970,519...152,983,579
JBrowse link
G LINC02840 long intergenic non-protein coding RNA 2840 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,806,197...152,875,814
Ensembl chr 6:152,754,903...152,875,991
JBrowse link
G MTRF1L mitochondrial translational release factor 1 like IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,987,362...153,003,439
Ensembl chr 6:152,987,362...153,002,709
JBrowse link
G MYCT1 MYC target 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,697,895...152,747,175
Ensembl chr 6:152,697,895...152,724,567
JBrowse link
G RGS17 regulator of G protein signaling 17 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:153,004,459...153,131,284
Ensembl chr 6:153,004,459...153,131,282
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
ClinVar
OMIM
PMID:17159980, PMID:17503513, PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23325900, PMID:23352163, PMID:23959263, PMID:24033266, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25843669, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27086870, PMID:27197992, PMID:27305979, PMID:27782104, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28687974, PMID:28750076, PMID:28798025, PMID:29482223, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623, PMID:30573412, PMID:27086870 RGD:13209001 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:17159980, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29482223 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:24033266, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G VIP vasoactive intestinal peptide IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,750,797...152,759,765
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA7 cytochrome c oxidase assembly factor 7 (putative) IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar
PMID:27683825, PMID:29718187, PMID:30885959 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar
OMIM
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP ClinVar Annotator: match by term: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
ClinVar
OMIM
PMID:14556008, PMID:28492532 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:7581394, PMID:7668254, PMID:9425230, PMID:19129531, PMID:22280810, PMID:23566833, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G AGA aspartylglucosaminidase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:177,430,774...177,442,469
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility IAGP RGD PMID:14556008 RGD:1599348 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G ATP7B ATPase copper transporting beta IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:29482223, PMID:30097039, PMID:30311386 NCBI chr13:51,932,669...52,012,130
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G ATXN1 ataxin 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:16,299,112...16,761,490
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G ATXN10 ataxin 10 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307
JBrowse link
G ATXN7 ataxin 7 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
Ensembl chr 3:63,863,155...64,003,462
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 4:122,700,437...122,744,943
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BTD biotinidase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:15,601,352...15,722,516
Ensembl chr 3:15,601,341...15,722,311
JBrowse link
G CA8 carbonic anhydrase 8 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP
ISS
ClinVar Annotator: match by term: Cerebellar ataxia ClinVar
MouseDO
PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,563,921...36,703,558
JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,869...120,580,170
JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 1:3,812,086...3,857,233
Ensembl chr 1:3,812,086...3,857,396
Ensembl chr 1:3,812,086...3,857,396
JBrowse link
G CHKB choline kinase beta IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,949...50,601,455
Ensembl chr22:50,578,949...50,601,455
JBrowse link
G CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:50,568,861...50,582,999
Ensembl chr22:50,568,869...50,582,965
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
JBrowse link
G CLCN2 chloride voltage-gated channel 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:102,918,293...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:107,201,372...107,564,361
Ensembl chr 7:107,201,555...107,564,514
JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:23,388,493...23,453,215
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:226,939,339...226,987,544
Ensembl chr 1:226,897,536...226,987,545
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G ESR1 estrogen receptor 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:5,261,007...5,771,583
Ensembl chr 6:5,261,044...5,829,192
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FMR1 FMRP translational regulator 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,951...147,951,125
Ensembl chr  X:147,911,951...147,951,125
JBrowse link
G GALC galactosylceramidase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
G GCSH glycine cleavage system protein H IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395
JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:3837850, PMID:8445615, PMID:11161796, PMID:16088929, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,919...72,376,476
Ensembl chr15:72,340,919...72,376,476
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr17:4,988,130...5,006,093
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,241...34,540,748
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823, PMID:19420365, PMID:20651251, PMID:20807765, PMID:32581362 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:114,055,978...114,496,500
Ensembl chr 5:114,055,926...114,496,500
Ensembl chr 5:114,055,926...114,496,500
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,107...112,657,592
JBrowse link
G LOC101927078 uncharacterized LOC101927078 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:114,447,418...114,773,413 JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763, PMID:16043786, PMID:16835246, PMID:17296794, PMID:17959936, PMID:18316077, PMID:19812251, PMID:20008656, PMID:21508331, PMID:24957169, PMID:25741868, PMID:26467025, PMID:26801520, PMID:27100445, PMID:28492532, PMID:30311386 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:8042671, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:24986921, PMID:25741868, PMID:26633545, PMID:32313153, PMID:32581362 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:50,188,186...50,310,540
Ensembl chr19:50,188,186...50,310,542
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,767...95,116,455
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
G NEFL neurofilament light IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:30311386 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110
Ensembl chr 8:24,950,955...24,957,110
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,857...169,612,629
Ensembl chr 4:169,392,857...169,612,629
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
JBrowse link
G NUBPL nucleotide binding protein like IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:31,561,399...31,861,293
Ensembl chr14:31,489,956...31,861,224
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OTC ornithine carbamoyltransferase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
G PDE8B phosphodiesterase 8B IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:32581362, PMID:32860008 NCBI chr16:8,797,813...8,849,326
Ensembl chr16:8,788,823...8,849,325
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28182637, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:53,882,197...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr19:40,393,762...40,414,718
Ensembl chr19:40,393,766...40,414,793
Ensembl chr19:40,393,766...40,414,793
Ensembl chr19:40,393,766...40,414,793
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr17:59,697,306...59,707,626
Ensembl chr17:59,674,636...59,707,626
JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:130,110,633...130,184,873
Ensembl chr  X:130,171,962...130,184,870
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
JBrowse link
G RFC1 replication factor C subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 4:39,287,456...39,366,381
Ensembl chr 4:39,287,456...39,366,375
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RPL27A ribosomal protein L27a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr11:8,682,792...8,689,872
Ensembl chr11:8,682,788...8,714,759
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810, PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 4:25,120,014...25,160,546
Ensembl chr 4:25,120,014...25,160,449
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,207...36,519,521
Ensembl chr14:36,473,207...36,519,521
JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:42,416,475...42,542,143
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:155,821,024...155,855,358
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
JBrowse link
G SNX14 sorting nexin 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,505,496...85,594,156
JBrowse link
G SPART spartin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:66,682,496...66,729,361
Ensembl chr11:66,682,497...66,729,226
Ensembl chr11:66,682,497...66,729,226
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:77,505,997...77,616,663
Ensembl chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12757705, PMID:12757706, PMID:15146462, PMID:15907468, PMID:18157819, PMID:21224894, PMID:25326635, PMID:25373814, PMID:25741868, PMID:25885655, PMID:26825355, PMID:28492532, PMID:29397290, PMID:30311386, PMID:30896912 NCBI chr 3:4,034,714...4,467,270
Ensembl chr 3:3,700,814...4,467,273
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar PMID:26467025, PMID:28492532, PMID:30311386, PMID:17503513 RGD:13209009 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:33,420,065...33,453,689
Ensembl chr 6:33,419,661...33,453,689
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877
Ensembl chr11:2,163,929...2,171,877
JBrowse link
G TMEM70 transmembrane protein 70 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:18953340, PMID:20937241, PMID:21815885, PMID:22433607, PMID:24485043, PMID:25741868, PMID:26550569, PMID:28492532, PMID:30311386 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:229,763,837...229,923,234
Ensembl chr 2:229,763,837...229,923,239
Ensembl chr 2:229,763,837...229,923,239
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,516,060...75,524,735
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:77,177,353...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17436253, PMID:29681091, PMID:30311386 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPC3 transient receptor potential cation channel subfamily C member 3 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 41 ClinVar
OMIM
PMID:25477146 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 42 ClinVar
OMIM
PMID:25741868, PMID:26456284, PMID:26715324, PMID:28492532, PMID:32860008 NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MME membrane metalloendopeptidase IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:25741868, PMID:27583304 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUM1 pumilio RNA binding family member 1 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 ClinVar
OMIM
PMID:25741868, PMID:29474920 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar PMID:30381368 NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar
OMIM
PMID:30381368 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8A2 ATPase phospholipid transporting 8A2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851
JBrowse link
G CA8 carbonic anhydrase 8 IEA
ISS
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400
JBrowse link
G VLDLR very low density lipoprotein receptor IAGP
EXP
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18326629, PMID:18364738, PMID:25741868 NCBI chr 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
JBrowse link
G WDR81 WD repeat domain 81 IEA OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VLDLR very low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577, PMID:16080122, PMID:18043714, PMID:18326629, PMID:18364738, PMID:18414213, PMID:22700954, PMID:22973972, PMID:25741868, PMID:28492532 NCBI chr 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
JBrowse link
G VLDLR-AS1 VLDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar PMID:16080122, PMID:25741868, PMID:28492532 NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,421,597...2,643,359
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 ClinVar
OMIM
PMID:16371500, PMID:21885617, PMID:25558065, PMID:25741868, PMID:26437881, PMID:28097321, PMID:28492532, PMID:28969387 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA8 carbonic anhydrase 8 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 ClinVar
OMIM
PMID:19461874, PMID:21937992, PMID:25741868 NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8A2 ATPase phospholipid transporting 8A2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 ClinVar
OMIM
PMID:18326629, PMID:22892528, PMID:22912588, PMID:25590979, PMID:25741868, PMID:27679995, PMID:28454995 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851
JBrowse link
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELF2 E74 like ETS transcription factor 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar NCBI chr 4:139,057,220...139,177,218
Ensembl chr 4:139,028,112...139,177,218
JBrowse link
G RFC1 replication factor C subunit 1 IAGP OMIM NCBI chr 4:39,287,456...39,366,381
Ensembl chr 4:39,287,456...39,366,375
JBrowse link
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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 chr17:4,163,820...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
OMIM
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 chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar
OMIM
PMID:25466870 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350, PMID:22563501, PMID:24220513, PMID:32214227 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRMD4A FERM domain containing 4A IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia ClinVar
OMIM
PMID:25388005 NCBI chr10:13,638,300...14,330,924
Ensembl chr10:13,643,706...14,462,142
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP OMIM NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP ClinVar Annotator: match by term: Episodic ataxia, type 5 ClinVar
OMIM
PMID:10762541, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,768...152,099,475
Ensembl chr 2:151,832,768...152,099,475
JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A3 solute carrier family 1 member 3 IAGP ClinVar Annotator: match by term: Episodic ataxia, type 6 ClinVar
OMIM
PMID:16116111, PMID:19139306, PMID:23107647, PMID:24214974, PMID:25497598, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,606,355...36,688,334
JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP
EXP
ClinVar Annotator: match by term: Familial hemiplegic migraine type 1
ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1564484, PMID:3358708, PMID:7537420, PMID:8734765, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9488686, PMID:9559993, PMID:9879686, PMID:9915947, PMID:10024348, PMID:10408532, PMID:10408534, PMID:10734061, PMID:10987655, PMID:11061267, PMID:11176968, PMID:11179022, PMID:11409427, PMID:11439943, PMID:11564488, PMID:11723274, PMID:11814735, PMID:11960817, PMID:11971066, PMID:11985388, PMID:12056940, PMID:12111613, PMID:12707077, PMID:12756131, PMID:14718690, PMID:15032980, PMID:15240985, PMID:15300451, PMID:15452324, PMID:15483044, PMID:15710862, PMID:15795222, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16866717, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18056581, PMID:18313928, PMID:18400034, PMID:18498393, PMID:18541804, PMID:18644040, PMID:18940563, PMID:19484318, PMID:19586927, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22000314, PMID:22190617, PMID:22249839, PMID:22527033, PMID:22784462, PMID:22969264, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:23961289, PMID:24270521, PMID:24486772, PMID:24498617, PMID:24849341, PMID:25266619, PMID:25274239, PMID:25326635, PMID:25735478, PMID:25741868, PMID:25758715, PMID:25969684, PMID:26467025, PMID:26814174, PMID:27066515, PMID:27290639, PMID:27476654, PMID:28007337, PMID:28169007, PMID:28492532, PMID:28742085, PMID:28978442, PMID:29056246, PMID:29100083, PMID:30063100, PMID:30283815, PMID:30311386, PMID:97053792 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G LOC108663985 calcium voltage-gated channel subunit alpha1 A repeat instability region IAGP ClinVar Annotator: match by term: Familial hemiplegic migraine type 1 ClinVar PMID:19586927 NCBI chr19:13,207,859...13,207,898 JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin IAGP
EXP
DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich's ataxia
CTD Direct Evidence: marker/mechanism
DNA:repeat:intron:GAA (human)
ClinVar
CTD
PMID:8596916, PMID:9150176, PMID:9700204, PMID:9737785, PMID:9989622, PMID:10543403, PMID:10732799, PMID:11020385, PMID:11030757, PMID:11843702, PMID:12019217, PMID:12923074, PMID:16120311, PMID:16239244, PMID:16911956, PMID:17101455, PMID:17331979, PMID:17703324, PMID:18537827, PMID:19494730, PMID:19629184, PMID:20098685, PMID:21298097, PMID:22016819, PMID:23418481, PMID:26339677, PMID:26467025, PMID:26704351, PMID:26954031, PMID:28812047, PMID:29272104, PMID:30451920, PMID:10543403, PMID:8596916 RGD:1598961, RGD:1582636 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin IAGP ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:26467025 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360, PMID:11445634, PMID:12611586, PMID:14981189, PMID:17030759, PMID:17558851, PMID:17590087, PMID:18579805, PMID:21367767, PMID:22986007, PMID:23495097, PMID:25574826, PMID:25741868, PMID:25794864, PMID:26770814, PMID:27062503, PMID:27108797, PMID:27108798, PMID:27862915, PMID:28488678, PMID:28659154, PMID:29169895, PMID:29925855, PMID:32499604 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF216 ring finger protein 216 IAGP ClinVar Annotator: match by term: Gordon holmes syndrome
ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar
OMIM
PMID:11932290, PMID:23656588, PMID:25741868, PMID:25841028 NCBI chr 7:5,620,047...5,781,721
Ensembl chr 7:5,620,047...5,781,696
Ensembl chr 7:5,620,047...5,781,696
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Dementia, familial Danish
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar
OMIM
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 susceptibility
treatment
IAGP
EXP
IMP
IDA
IEP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Azorean disease
protein:increased degradation, altered localization:neuron, nucleus
CTD
OMIM
ClinVar
PMID:31378764, PMID:7874163, PMID:18841197, PMID:18385100, PMID:18385100, PMID:9804376, PMID:20308049 RGD:1599419, RGD:11558010, RGD:5131159, RGD:5131159, RGD:11557998, RGD:11557997 NCBI chr14:92,058,552...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G BECN1 beclin 1 ISO
IMP
IEP
protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185, PMID:21478185, PMID:21478185 RGD:6483072, RGD:6483072, RGD:6483072 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr21:46,598,604...46,605,243
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877
Ensembl chr11:2,163,929...2,171,877
JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIL1 SIL1 nucleotide exchange factor IEA
IAGP
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502, PMID:12692552, PMID:16282977, PMID:16282978, PMID:17026626, PMID:17309654, PMID:18285827, PMID:19471582, PMID:20111056, PMID:23062754, PMID:24176978, PMID:24631270, PMID:25741868, PMID:26467025, PMID:26733775, PMID:28492532 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: SCA8 (formerly)
ClinVar Annotator: match by term: mitochondrial hepatopathy
ClinVar
OMIM
PMID:16135556, PMID:17614277, PMID:17722119, PMID:17921179, PMID:20479361, PMID:20659899, PMID:21689831, PMID:22353293, PMID:22928142, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9L sterile alpha motif domain containing 9 like IAGP ClinVar Annotator: match by term: Myelocerebellar disorder
ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome
ClinVar
OMIM
PMID:283689, PMID:25741868, PMID:27259050, PMID:28202457, PMID:28570036 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADACL3 arylacetamide deacetylase like 3 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,716,110...12,728,760
Ensembl chr 1:12,716,110...12,728,760
JBrowse link
G AADACL4 arylacetamide deacetylase like 4 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,644,085...12,667,076
Ensembl chr 1:12,644,547...12,667,086
JBrowse link
G C1orf158 chromosome 1 open reading frame 158 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,746,200...12,763,699
Ensembl chr 1:12,746,200...12,763,699
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation OMIM
ClinVar
PMID:22693284, PMID:24738973, PMID:25326637, PMID:25741868, PMID:28492532, PMID:28708303 NCBI chr 1:6,785,452...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G DHRS3 dehydrogenase/reductase 3 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,567,910...12,618,210
Ensembl chr 1:12,567,910...12,618,210
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIIP migration and invasion inhibitory protein IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,019,466...12,032,045
Ensembl chr 1:12,019,466...12,032,045
JBrowse link
G NID1 nidogen 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:235,975,830...236,065,092
Ensembl chr 1:235,975,830...236,065,109
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PRAMEF1 PRAME family member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,791,397...12,796,628
Ensembl chr 1:12,791,397...12,796,628
JBrowse link
G PRAMEF11 PRAME family member 11 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,824,380...12,831,410
Ensembl chr 1:12,824,605...12,831,410
JBrowse link
G PRAMEF12 PRAME family member 12 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,773,738...12,777,906
Ensembl chr 1:12,773,738...12,777,906
Ensembl chr 1:12,773,738...12,777,906
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G SLC9A1 solute carrier family 9 member A1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
G SMYD3 SET and MYND domain containing 3 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:245,749,342...246,507,279
Ensembl chr 1:245,749,342...246,507,312
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,063,303...12,144,213
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42BPA CDC42 binding protein kinase alpha IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:226,989,858...227,318,502
Ensembl chr 1:226,989,865...227,318,474
JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar
OMIM
PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074, PMID:18414213, PMID:20495179, PMID:22036850, PMID:24033266, PMID:24164873, PMID:24218524, PMID:25131622, PMID:25280894, PMID:25356970, PMID:25498144, PMID:25558065, PMID:25741868, PMID:26467025, PMID:26640698, PMID:27106809, PMID:28125198, PMID:28492532, PMID:30311386 NCBI chr 1:226,939,339...226,987,544
Ensembl chr 1:226,897,536...226,987,545
JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
ClinVar PMID:22503633, PMID:23418020, PMID:24009529, PMID:25741868, PMID:26216056, PMID:26968735, PMID:27058611, PMID:28041643, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:29068549, PMID:29688594 NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328
JBrowse link
G IFT140 intraflagellar transport 140 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar
OMIM
PMID:22503633, PMID:23418020, PMID:24009529, PMID:24698627, PMID:25741868, PMID:26216056, PMID:26359340, PMID:26766544, PMID:26968735, PMID:27058611, PMID:28041643, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:28991257, PMID:29068549, PMID:29688594, PMID:32860008 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G PTX4 pentraxin 4 IAGP ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr16:1,485,886...1,488,944
Ensembl chr16:1,485,886...1,488,981
JBrowse link
G TELO2 telomere maintenance 2 IAGP ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr16:1,493,345...1,510,459
Ensembl chr16:1,493,344...1,510,457
JBrowse link
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 IAGP DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,978...133,071,863
Ensembl chr 9:133,061,978...133,071,863
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:4,988,130...5,006,093
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 4:127,917,732...127,965,988
Ensembl chr 4:127,917,732...127,966,034
Ensembl chr 4:127,917,732...127,966,034
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr12:6,451,656...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,987
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,899,536...4,902,934
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,967,993...4,988,281
Ensembl chr17:4,967,992...4,987,675
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G ENO3 enolase 3 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,949,182...4,957,131
Ensembl chr17:4,948,092...4,957,131
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr17:4,988,130...5,006,093
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar
OMIM
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G RNF167 ring finger protein 167 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,940,092...4,945,222
Ensembl chr17:4,940,008...4,945,222
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,937,130...4,940,251
Ensembl chr17:4,937,130...4,940,053
JBrowse link
G SPAG7 sperm associated antigen 7 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,959,226...4,967,817
Ensembl chr17:4,959,226...4,967,817
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive ClinVar
OMIM
PMID:22448145, PMID:25741868 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive ClinVar
OMIM
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448
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 IAGP ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive ClinVar
OMIM
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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 IAGP ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346, PMID:32860008 NCBI chr10:132,782,229...132,786,147
Ensembl chr10:132,783,179...132,786,147
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 IAGP OMIM NCBI chr15:41,231,156...41,281,887
Ensembl chr15:41,230,839...41,281,887
JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS ClinVar
OMIM
PMID:25741868, PMID:29878067 NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRM1 glutamate metabotropic receptor 1 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 44 ClinVar
OMIM
PMID:28886343 NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT2 FAT atypical cadherin 2 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar
OMIM
PMID:20301317, PMID:25741868, PMID:29053796, PMID:29847346 NCBI chr 5:151,504,092...151,594,822
Ensembl chr 5:151,504,093...151,568,944
JBrowse link
G SLC36A1 solute carrier family 36 member 1 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar PMID:20301317, PMID:25741868, PMID:29053796, PMID:29847346 NCBI chr 5:151,411,344...151,556,318
Ensembl chr 5:151,437,046...151,492,379
JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar
OMIM
PMID:8595484, PMID:24011642, PMID:25741868, PMID:29053796 NCBI chr19:40,348,395...40,378,485
Ensembl chr19:40,348,456...40,380,439
JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar PMID:24011642, PMID:25741868 NCBI chr19:40,393,762...40,414,718
Ensembl chr19:40,393,766...40,414,793
Ensembl chr19:40,393,766...40,414,793
Ensembl chr19:40,393,766...40,414,793
JBrowse link
spinocerebellar ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN1 ataxin 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 1 ClinVar
OMIM
PMID:25741868 NCBI chr 6:16,299,112...16,761,490
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G LOC108663993 ataxin 1 repeat instability region IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 ClinVar NCBI chr 6:16,327,634...16,327,724 JBrowse link
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar
PMID:12244316, PMID:24355542, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr14:89,954,923...90,044,768
Ensembl chr14:89,954,939...90,044,764
JBrowse link
spinocerebellar ataxia type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN10 ataxin 10 IAGP OMIM NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307
JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTBK2 tau tubulin kinase 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 11
ClinVar Annotator: match by term: Spinocerebellar ataxia 11
OMIM
ClinVar
PMID:18037885, PMID:19533200, PMID:20301723, PMID:24808823, PMID:25741868, PMID:26063658, PMID:26467025, PMID:28492532 NCBI chr15:42,738,730...42,920,995
Ensembl chr15:42,738,730...42,920,809
JBrowse link
spinocerebellar ataxia type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 12 OMIM
ClinVar
PMID:25741868 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,581,146...147,084,784
JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 13
ClinVar Annotator: match by term: Spinocerebellar ataxia type 13
ClinVar
OMIM
PMID:10820125, PMID:16135769, PMID:16501573, PMID:18592334, PMID:19953606, PMID:20712895, PMID:21543613, PMID:22289912, PMID:22736459, PMID:22933745, PMID:23215817, PMID:23734863, PMID:23912307, PMID:24116147, PMID:25152487, PMID:25497598, PMID:25741868, PMID:25756792, PMID:25981959, PMID:26467025, PMID:28216058, PMID:28467418, PMID:28492532 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515
JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 14
ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
ClinVar
OMIM
PMID:9545390, PMID:12164726, PMID:12644968, PMID:14676051, PMID:14694043, PMID:15313841, PMID:15618281, PMID:15824357, PMID:15841389, PMID:15964845, PMID:16189624, PMID:16193476, PMID:16547918, PMID:16649092, PMID:16763984, PMID:17024314, PMID:17562946, PMID:17659643, PMID:18005063, PMID:18499672, PMID:18577575, PMID:19561170, PMID:20301573, PMID:21434874, PMID:21666345, PMID:21937992, PMID:24134140, PMID:24744737, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28738819, PMID:30093405, PMID:30363848 NCBI chr19:53,882,197...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGOT eosinophil granule ontogeny transcript IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120 NCBI chr 3:4,749,192...4,751,590
Ensembl chr 3:4,749,192...4,751,590
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP
EXP
DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
ClinVar Annotator: match by term: Spinocerebellar ataxia 15
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human)
ClinVar
CTD
OMIM
PMID:14981189, PMID:17932120, PMID:18579805, PMID:20669319, PMID:21681106, PMID:22986007, PMID:25741868, PMID:28492532, PMID:21555639, PMID:20082166 RGD:6480683, RGD:6480871 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
JBrowse link
G ITPR1-DT ITPR1 divergent transcript IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,490,317...4,493,163
Ensembl chr 3:4,490,891...4,493,163
JBrowse link
G LOC112935931 Sharpr-MPRA regulatory region 4455 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 16 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,340,585...4,340,879 JBrowse link
G LOC112935932 Sharpr-MPRA regulatory region 14798 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 16 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,533,805...4,534,099 JBrowse link
G SETMAR SET domain and mariner transposase fusion gene IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,303,304...4,320,649
Ensembl chr 3:4,303,304...4,317,567
JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 16 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,034,714...4,467,270
Ensembl chr 3:3,700,814...4,467,273
JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1B ATP synthase F1 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,343
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:123,057,489...123,062,366
Ensembl chr11:123,057,489...123,063,230
JBrowse link
G HYOU1 hypoxia up-regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:119,044,187...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G LOC108663996 TATA-box binding protein repeat instability region IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar PMID:25741868 NCBI chr 6:170,561,907...170,562,021 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,410...43,773,278
JBrowse link
G TBP TATA-box binding protein IMP
IAGP
ClinVar Annotator: match by term: Spinocerebellar ataxia 17 ClinVar
OMIM
PMID:25741868, PMID:23699518 RGD:9681730 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 19
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
ClinVar
OMIM
PMID:11284128, PMID:12764052, PMID:15655131, PMID:19889341, PMID:20128157, PMID:20930958, PMID:21349352, PMID:22402074, PMID:22457051, PMID:22840528, PMID:23280837, PMID:23280838, PMID:23838598, PMID:23963749, PMID:25175087, PMID:25410959, PMID:25741868, PMID:25741869, PMID:26016905, PMID:26189493, PMID:26467025, PMID:26633542, PMID:27899622, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28895081, PMID:29482223, PMID:30776697 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,155
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 2 OMIM
ClinVar
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
spinocerebellar ataxia type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 21 ClinVar PMID:26581903, PMID:30531813 NCBI chr11:65,525,081...65,538,710
Ensembl chr11:65,525,077...65,538,704
JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 21 ClinVar
OMIM
PMID:11160961, PMID:25070513, PMID:25741868 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624
JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDYN prodynorphin IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 23
ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
ClinVar
OMIM
PMID:21035104, PMID:23108490, PMID:23471613, PMID:25741868, PMID:26467025, PMID:27528516, PMID:28492532 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
JBrowse link
G PDYN-AS1 PDYN antisense RNA 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 23
ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
ClinVar PMID:21035104, PMID:23108490, PMID:23471613, PMID:25741868, PMID:26467025, PMID:27528516, PMID:28492532 NCBI chr20:1,947,210...2,007,517
Ensembl chr20:1,947,246...2,030,028
JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF2 eukaryotic translation elongation factor 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 26 ClinVar
OMIM
PMID:15732118, PMID:23001565 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s)