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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:primary cerebellar degeneration
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Accession:DOID:9277 term browser browse the term
Definition:A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Synonyms:exact_synonym: Early Onset Cerebellar Ataxia;   Familial Spinocerebellar Degeneration;   Hereditary Ataxia;   Hereditary Ataxias;   Hereditary Spinocerebellar Degeneration;   Hereditary Spinocerebellar Degenerations;   Inherited Spinocerebellar Degeneration;   Inherited Spinocerebellar Degenerations;   Late Onset Cerebellar Ataxia;   MSS;   Marie Cerebellar Ataxia;   Marie's Cerebellar Ataxia;   Primary Cerebellar Degenerations;   Spino Cerebellar Degeneration;   corticostriatal spinal degeneration;   corticostriatal-spinal degenerations;   familial spinocerebellar degenerations;   spino cerebellar degenerations;   spinocerebellar degeneration;   spinocerebellar degenerations;   spinocerebellar disease;   spinocerebellar diseases
 narrow_synonym: SENSORIMOTOR NEUROPATHY
 primary_id: MESH:D013132
 alt_id: OMIM:248800
 xref: ICD9CM:334.2
For additional species annotation, visit the Alliance of Genome Resources.



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primary cerebellar degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:25741868 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO OMIM NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:20504773 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... RGD:12879399, RGD:10053611 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO
ISS
DNA:mutation:exon:c.342C>T(human)
OMIM:208900
MouseDO
RGD
PMID:19898928 RGD:14394817 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO
ISS
DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human)
OMIM:208900
MouseDO
RGD
PMID:19898928 RGD:14394817 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO
ISS
DNA:deletion:intron:IVS4-12delTC(human)
OMIM:208900
MouseDO
RGD
PMID:19898928 RGD:14394817 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G C8h11orf1 similar to human chromosome 11 open reading frame 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO
ISS
protein:altered localization:nucleus:
OMIM:208900
MouseDO
RGD
PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Ifng interferon gamma ISO
ISS
OMIM:208900 MouseDO
RGD
PMID:6432389 RGD:8693328 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il2 interleukin 2 ISO
ISS
OMIM:208900 MouseDO
RGD
PMID:6432389 RGD:8693328 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jrkl JRK-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G LOC100125362 hypothetical protein LOC100125362 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
JBrowse link
Ataxia Telangiectasia Like Disorder 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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 ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM
ClinVar
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:20696759 PMID:25326637 PMID:25741868 PMID:26604000 PMID:27145208 More... NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM
ClinVar
PMID:9536098 PMID:14770181 PMID:15732101 PMID:17159128 PMID:17576681 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
JBrowse link
Ataxia with Oculomotor Apraxia Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:25741868 PMID:28492532 PMID:30460542 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
autosomal dominant cerebellar 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 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 More... NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
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 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
G Atg7 autophagy related 7 ISS MouseDO NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213 PMID:22036850 PMID:24164873 PMID:25741868 PMID:26467025 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISS MouseDO NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
JBrowse link
G Thg1l tRNA-histidine guanylyltransferase 1-like ISS MouseDO NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
G Vps41 VPS41 subunit of HOPS complex ISS MouseDO NCBI chr17:46,063,124...46,227,582
Ensembl chr17:46,063,124...46,227,791
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 More... NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar
PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 OMIM
ClinVar
PMID:9536098 PMID:11572989 PMID:17470496 PMID:17576681 PMID:20480411 More... NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 OMIM
ClinVar
PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:31319223 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 OMIM
ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:31571321 NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM
ClinVar
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 OMIM
ClinVar
PMID:23611888 PMID:24078737 PMID:25741868 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
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 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome OMIM
ClinVar
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 OMIM
ClinVar
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 ClinVar NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 OMIM
ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 NCBI chr 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
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 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome OMIM
ClinVar
PMID:25741868 PMID:29419818 PMID:32860008 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 OMIM
ClinVar
PMID:25741868 PMID:26157035 NCBI chr 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611
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 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency OMIM
ClinVar
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 ClinVar
OMIM
PMID:15981765 PMID:26812546 NCBI chr20:47,798,222...47,889,216
Ensembl chr20:47,798,290...47,889,209
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar
PMID:25741868 PMID:30084953 NCBI chr 2:187,528,514...187,585,270
Ensembl chr 2:187,528,513...187,585,270
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar
PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr17:46,063,124...46,227,582
Ensembl chr17:46,063,124...46,227,791
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar
PMID:26697887 PMID:29383861 PMID:29764912 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar
PMID:34161705 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar
PMID:33889951 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome OMIM
ClinVar
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 More... NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:11339651 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,196,068...42,202,437
Ensembl chr 1:42,196,068...42,202,437
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:42,210,583...42,220,836
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:42,018,137...42,029,410
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 More... RGD:13209001 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar
PMID:25741868 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199
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 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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 ISO 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
OMIM
ClinVar
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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 ISO ClinVar Annotator: match by term: Cayman type cerebellar ataxia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO
ISS
MouseDO
RGD
PMID:14556008 RGD:1599348 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:25741868 PMID:28492532 PMID:29909963 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS
ISO
ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar
PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28492532 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532 PMID:35351988 NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO
ISS
DNA:mutation:cds:c.241A4G(p.K81E)(human) MouseDO
RGD
PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:23851226 PMID:25741868 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO
ISS
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: MouseDO
RGD
PMID:20803511 RGD:8694192 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 More... NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
G Rpgrip1l Rpgrip1-like ISO
ISS
associated with Joubert Syndrome 7;DNA:mutations:exons: MouseDO
RGD
PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:163,539,732...163,542,771 JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810 PMID:25741868 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Sel1l SEL1L adaptor subunit of ERAD E3 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 NCBI chr 6:110,735,450...110,779,695
Ensembl chr 6:110,735,450...110,779,648
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:25848753 NCBI chr 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:24033266 PMID:25533962 PMID:25741868 PMID:26865513 PMID:26918652 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO
ISS
DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia
MouseDO
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:28492532 PMID:17503513 RGD:13209009 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 type 41 OMIM
ClinVar
PMID:25477146 PMID:25741868 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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 type 42 OMIM
ClinVar
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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 OMIM
ClinVar
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar
PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS OMIM
ClinVar
PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
JBrowse link
G Car8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
JBrowse link
G Vldlr very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | 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 OMIM
ClinVar
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM
ClinVar
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 More... NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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 Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 OMIM
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar
PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
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 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron:
OMIM
ClinVar
RGD
PMID:25741868 PMID:32040566 PMID:30926972 RGD:41404728, RGD:41404727 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 More... NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder OMIM
ClinVar
PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 PMID:30577886 More... NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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 ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia OMIM
ClinVar
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO 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 PMID:33983693 NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
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 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM
ClinVar
PMID:25388005 PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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 ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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 ISO ClinVar Annotator: match by term: Episodic ataxia type 5 OMIM
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
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 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 OMIM
ClinVar
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
CTD Direct Evidence: marker/mechanism
DNA:repeat:intron:GAA (human)
ClinVar
CTD
RGD
PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 More... RGD:1598961, RGD:1582636 NCBI chr 1:221,874,007...221,897,841
Ensembl chr 1:221,872,420...221,897,540
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO
ISS
DNA:missense mutation:cds:m.3696C>T (human) MouseDO
RGD
PMID:18807169 RGD:5490251 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:34906502 NCBI chr 1:221,874,007...221,897,841
Ensembl chr 1:221,872,420...221,897,540
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISS MouseDO NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643
JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Nup107 nucleoporin 107 ISS MouseDO NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
G Nup133 nucleoporin 133 ISS MouseDO NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
JBrowse link
G Wdr4 WD repeat domain 4 ISO
ISS
ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar
MouseDO
PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISS MouseDO NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929
JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar
PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar
PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643
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 ISO ClinVar Annotator: match by term: Gillespie syndrome OMIM
ClinVar
PMID:7952360 PMID:10664581 PMID:17558851 PMID:21465660 PMID:24091540 More... NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome OMIM
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism OMIM
ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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 ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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
protein:increased degradation, altered localization:neuron, nucleus
ClinVar Annotator: match by term: Azorean disease
CTD
ClinVar
OMIM
RGD
PMID:31378764 PMID:7874163 PMID:18841197 PMID:18385100 PMID:9804376 More... RGD:1599419, RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
JBrowse link
G Becn1 beclin 1 ISO
ISS
protein:decreased expression:brain
OMIM:109150
protein:decreased expression:fibroblast
MouseDO
RGD
PMID:21478185 PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Slc18a2 solute carrier family 18 member A2 IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
JBrowse link
G Th tyrosine hydroxylase IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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 ISS
ISO
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar
PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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 ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome OMIM
ClinVar
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION OMIM
ClinVar
PMID:25741868 PMID:33963192 NCBI chr10:42,295,729...42,342,902
Ensembl chr10:42,297,515...42,342,892
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures ClinVar PMID:25741868 PMID:30420557 NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM
ClinVar
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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 Camta1 calmodulin binding transcription activator 1 ISO OMIM NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO
ISS
DNA:missense mutations:cds:725G>A,457A>G(human) MouseDO
RGD
PMID:21465257 RGD:10054301 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G C16h4orf47 similar to human chromosome 4 open reading frame 47 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr13:91,683,775...91,903,732
Ensembl chr13:91,684,007...91,903,732
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar
PMID:9536098 PMID:12682339 PMID:15326254 PMID:17576681 PMID:18319072 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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 ISO
ISS
DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia
MouseDO
ClinVar
RGD
PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
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