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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:autosomal dominant cerebellar ataxia
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Accession:DOID:1441 term browser browse the term
Definition:A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:xref: NCI:C82341;   OMIM:PS164400;   ORDO:94
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 41 OMIM
ClinVar
PMID:25477146 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 42 ClinVar
OMIM
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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 metallo-endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:25741868 PMID:27583304 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 ClinVar
OMIM
PMID:25741868 PMID:29474920 NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar PMID:30381368 PMID:32488064 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar
OMIM
PMID:30381368 PMID:32488064 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
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 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
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
ISO 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:20308049, PMID:9804376, PMID:18385100, PMID:18841197 RGD:1599419, RGD:11557997, RGD:11557998, RGD:5131159, RGD:11558010 NCBI chr 6:125,817,420...125,853,461
Ensembl chr 6:125,819,640...125,853,461
JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185, PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Slc18a2 solute carrier family 18 member A2 IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link
G Th tyrosine hydroxylase IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,323,373...162,332,014
Ensembl chr 5:162,323,373...162,331,598
JBrowse link
G Aadacl4 arylacetamide deacetylase-like 4 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,676,109...162,688,907
Ensembl chr 5:162,676,100...162,688,935
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO 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 PMID:29389947 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,809,090...162,843,385
Ensembl chr 5:162,808,646...162,843,383
JBrowse link
G LOC691162 hypothetical protein LOC691162 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,351,021...162,369,987
Ensembl chr 5:162,351,001...162,369,990
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:164,672,464...164,679,503
Ensembl chr 5:164,672,471...164,679,654
JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr17:90,553,161...90,627,133
Ensembl chr17:90,553,394...90,627,101
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Pramef12 PRAME family member 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,378,442...162,388,786
Ensembl chr 5:162,385,173...162,388,620
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr13:97,330,120...97,807,813 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS ClinVar
OMIM
PMID:25741868 PMID:29878067 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 44 ClinVar
OMIM
PMID:28886343 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar
OMIM
PMID:20301317 PMID:25741868 PMID:29053796 PMID:29847346 NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar PMID:20301317 PMID:25741868 PMID:29053796 PMID:29847346 NCBI chr10:40,538,013...40,573,304
Ensembl chr10:40,543,288...40,574,444
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar
OMIM
PMID:8595484 PMID:24011642 PMID:25741868 PMID:29053796 NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar PMID:24011642 PMID:25741868 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 1 ClinVar
OMIM
PMID:25741868 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
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 ISO OMIM NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
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 ISO 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 chr 3:112,677,932...112,789,615
Ensembl chr 3:112,684,152...112,789,289
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 B, beta ISO ClinVar Annotator: match by term: PPP2R2B-Related Disorder
ClinVar Annotator: match by term: Spinocerebellar ataxia 12
OMIM
ClinVar
PMID:25741868 NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 13
ClinVar Annotator: match by term: Spinocerebellar ataxia 13
ClinVar Annotator: match by OMIM:605259
OMIM
ClinVar
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 chr 1:100,593,453...100,607,874
Ensembl chr 1:100,593,680...100,607,874
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
ClinVar Annotator: match by term: Spinocerebellar ataxia 14
ClinVar Annotator: match by OMIM:605361
OMIM
ClinVar
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 chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
JBrowse link
spinocerebellar ataxia type 15 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 ISO DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar ataxia type 16
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
ClinVar Annotator: match by term: Spinocerebellar ataxia 15
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
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:26467025 PMID:28492532, PMID:21555639, PMID:20082166 RGD:6480683, RGD:6480871 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Setmar SET domain and mariner transposase fusion gene ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chr 4:140,092,346...140,104,495
Ensembl chr 4:140,092,352...140,105,316
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 17 OMIM
ClinVar
PMID:25741868, PMID:23699518 RGD:9681730 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
ClinVar Annotator: match by term: Spinocerebellar ataxia 19
ClinVar Annotator: match by OMIM:607346
OMIM
ClinVar
PMID:11284128 PMID:21349352 PMID:22402074 PMID:22457051 PMID:22840528 PMID:23280838 PMID:23838598 PMID:23963749 PMID:25175087 PMID:25410959 PMID:25741868 PMID:25741869 PMID:26016905 PMID:26467025 PMID:26633542 PMID:28074886 PMID:28341588 PMID:28492532 PMID:29482223 PMID:30776697 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 2 OMIM
ClinVar
NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 21 ClinVar PMID:26581903 PMID:30531813 NCBI chr 1:221,115,992...221,129,668
Ensembl chr 1:221,115,860...221,129,654
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 21
ClinVar Annotator: match by OMIM:607454
OMIM
ClinVar
PMID:11160961 PMID:25070513 PMID:25741868 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
ClinVar Annotator: match by term: Spinocerebellar ataxia 23
ClinVar Annotator: match by OMIM:610245
OMIM
ClinVar
PMID:21035104 PMID:23108490 PMID:23471613 PMID:25741868 PMID:26467025 PMID:27528516 PMID:28492532 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
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 ISO ClinVar Annotator: match by OMIM:609306 OMIM
ClinVar
PMID:15732118 PMID:23001565 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar Annotator: match by term: Spinocerebellar ataxia 27
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609307
OMIM
ClinVar
CTD
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 NCBI chr15:110,382,274...111,077,027
Ensembl chr15:110,385,217...110,612,681
JBrowse link
spinocerebellar ataxia type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
ClinVar Annotator: match by term: Spinocerebellar ataxia 28
DNA:deletion
DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)
DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)
DNA:missense mutations: :multiple
DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human)
ClinVar Annotator: match by OMIM:610246
OMIM
ClinVar
PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25741868 PMID:25741869 PMID:26467025 PMID:28492532 PMID:31111429, PMID:24814845, PMID:26868664, PMID:20354562, PMID:20208537, PMID:20725928, PMID:25485680 RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
JBrowse link
spinocerebellar ataxia type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25741868 PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:24886560 PMID:26092869 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:17964524 PMID:19466712 PMID:19764032 PMID:20079931 PMID:20683928 PMID:20690115 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23559409 PMID:24265693 PMID:24850569 PMID:25377065 PMID:25741868 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25741868 PMID:26092869 PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 29
ClinVar Annotator: match by term: Spinocerebellar ataxia 29
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10664581 PMID:15623688 PMID:22986007 PMID:23806086 PMID:24088041 PMID:24091540 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25794864 PMID:25981959 PMID:26257172 PMID:26467025 PMID:27062503 PMID:28488678 PMID:28492532 PMID:28659154 PMID:28826917 PMID:29389947 PMID:29925855 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:17185389 PMID:17397051 PMID:23351400 PMID:28492532 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by null ClinVar
OMIM
PMID:19878914 NCBI chr19:947,862...993,467
Ensembl chr19:949,607...983,556
JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 16q22-linked ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chr19:37,327,395...37,345,047
Ensembl chr19:37,330,930...37,345,040
JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar
PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 35
ClinVar Annotator: match by OMIM:613908
OMIM
ClinVar
PMID:21106500 PMID:22554020 PMID:25253745 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28934387 PMID:30670339 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link
spinocerebellar ataxia type 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop56 NOP56 ribonucleoprotein ISO OMIM NCBI chr 3:122,803,726...122,808,564
Ensembl chr 3:122,803,772...122,808,558
JBrowse link
spinocerebellar ataxia type 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 37 OMIM
ClinVar
PMID:23700170 PMID:28686858 PMID:29939198 NCBI chr 5:123,154,360...124,279,170
Ensembl chr 5:123,905,166...124,280,115
JBrowse link
spinocerebellar ataxia type 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 38 OMIM
ClinVar
PMID:25065913 PMID:25741868 PMID:31294938 NCBI chr 8:85,220,941...85,287,449
Ensembl chr 8:85,259,982...85,285,983
JBrowse link
spinocerebellar ataxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO OMIM NCBI chr19:37,327,395...37,345,047
Ensembl chr19:37,330,930...37,345,040
JBrowse link
spinocerebellar ataxia type 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 40 OMIM
ClinVar
PMID:25062847 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
JBrowse link
spinocerebellar ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 5
ClinVar Annotator: match by term: Spinocerebellar ataxia 5
OMIM
ClinVar
PMID:16429157 PMID:20603325 PMID:22843192 PMID:22914369 PMID:25741868 PMID:25741869 PMID:25981959 PMID:26467025 PMID:28492532 PMID:29389947 PMID:31066025 PMID:31721007 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
spinocerebellar ataxia type 6 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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 6
ClinVar Annotator: match by term: Spinocerebellar ataxia 6
OMIM
ClinVar
PMID:8898206 PMID:9345107 PMID:9488686 PMID:9915947 PMID:10024348 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15240985 PMID:15452324 PMID:15795222 PMID:15985579 PMID:16325861 PMID:17142831 PMID:18056581 PMID:18354422 PMID:19811514 PMID:20097664 PMID:20301674 PMID:21183743 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22969264 PMID:23831250 PMID:24270521 PMID:24486772 PMID:24498617 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25481746 PMID:25596066 PMID:25741868 PMID:25758715 PMID:25969684 PMID:26467025 PMID:26814174 PMID:27290639 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28742085 PMID:29053796 PMID:29056246 PMID:29100083 PMID:30283815 PMID:30311386 PMID:31468518 PMID:31487502 PMID:97053792 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
spinocerebellar ataxia type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 7 OMIM
ClinVar
PMID:25741868 NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          hereditary ataxia 276
            cerebellar ataxia 242
              autosomal dominant cerebellar ataxia 82
                GRID2-related spinocerebellar ataxia 0
                Machado-Joseph disease 5
                Spinocerebellar Ataxia 32 0
                Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
                autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
                cerebellar ataxia type 41 1
                cerebellar ataxia type 42 1
                cerebellar ataxia type 43 1
                cerebellar ataxia type 47 1
                cerebellar ataxia type 48 2
                cerebellar ataxia type 9 0
                dentatorubral-pallidoluysian atrophy 1
                hypomyelinating leukoencephalopathy 0
                nonprogressive cerebellar ataxia with mental retardation 16
                spinocerebellar ataxia 44 1
                spinocerebellar ataxia 45 2
                spinocerebellar ataxia 46 2
                spinocerebellar ataxia type 1 1
                spinocerebellar ataxia type 10 1
                spinocerebellar ataxia type 11 1
                spinocerebellar ataxia type 12 1
                spinocerebellar ataxia type 13 1
                spinocerebellar ataxia type 14 1
                spinocerebellar ataxia type 15 2
                spinocerebellar ataxia type 17 9
                spinocerebellar ataxia type 18 0
                spinocerebellar ataxia type 19/22 2
                spinocerebellar ataxia type 2 1
                spinocerebellar ataxia type 20 0
                spinocerebellar ataxia type 21 2
                spinocerebellar ataxia type 23 1
                spinocerebellar ataxia type 25 0
                spinocerebellar ataxia type 26 1
                spinocerebellar ataxia type 27 1
                spinocerebellar ataxia type 28 2
                spinocerebellar ataxia type 29 11
                spinocerebellar ataxia type 30 0
                spinocerebellar ataxia type 31 2
                spinocerebellar ataxia type 34 1
                spinocerebellar ataxia type 35 1
                spinocerebellar ataxia type 36 1
                spinocerebellar ataxia type 37 1
                spinocerebellar ataxia type 38 1
                spinocerebellar ataxia type 4 1
                spinocerebellar ataxia type 40 1
                spinocerebellar ataxia type 5 1
                spinocerebellar ataxia type 6 1
                spinocerebellar ataxia type 7 1
                spinocerebellar ataxia type 8 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Ataxia 391
                  Spinocerebellar Ataxias 279
                    cerebellar ataxia 242
                      autosomal dominant cerebellar ataxia 82
                        GRID2-related spinocerebellar ataxia 0
                        Machado-Joseph disease 5
                        Spinocerebellar Ataxia 32 0
                        Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
                        autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
                        cerebellar ataxia type 41 1
                        cerebellar ataxia type 42 1
                        cerebellar ataxia type 43 1
                        cerebellar ataxia type 47 1
                        cerebellar ataxia type 48 2
                        cerebellar ataxia type 9 0
                        dentatorubral-pallidoluysian atrophy 1
                        hypomyelinating leukoencephalopathy 0
                        nonprogressive cerebellar ataxia with mental retardation 16
                        spinocerebellar ataxia 44 1
                        spinocerebellar ataxia 45 2
                        spinocerebellar ataxia 46 2
                        spinocerebellar ataxia type 1 1
                        spinocerebellar ataxia type 10 1
                        spinocerebellar ataxia type 11 1
                        spinocerebellar ataxia type 12 1
                        spinocerebellar ataxia type 13 1
                        spinocerebellar ataxia type 14 1
                        spinocerebellar ataxia type 15 2
                        spinocerebellar ataxia type 17 9
                        spinocerebellar ataxia type 18 0
                        spinocerebellar ataxia type 19/22 2
                        spinocerebellar ataxia type 2 1
                        spinocerebellar ataxia type 20 0
                        spinocerebellar ataxia type 21 2
                        spinocerebellar ataxia type 23 1
                        spinocerebellar ataxia type 25 0
                        spinocerebellar ataxia type 26 1
                        spinocerebellar ataxia type 27 1
                        spinocerebellar ataxia type 28 2
                        spinocerebellar ataxia type 29 11
                        spinocerebellar ataxia type 30 0
                        spinocerebellar ataxia type 31 2
                        spinocerebellar ataxia type 34 1
                        spinocerebellar ataxia type 35 1
                        spinocerebellar ataxia type 36 1
                        spinocerebellar ataxia type 37 1
                        spinocerebellar ataxia type 38 1
                        spinocerebellar ataxia type 4 1
                        spinocerebellar ataxia type 40 1
                        spinocerebellar ataxia type 5 1
                        spinocerebellar ataxia type 6 1
                        spinocerebellar ataxia type 7 1
                        spinocerebellar ataxia type 8 0
paths to the root