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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive cerebellar ataxia
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Accession:DOID:0050950 term browser browse the term
Definition:A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:xref: OMIM:PS213200;   ORDO:1172


show annotations for term's descendants           Sort by:
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 Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 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 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 Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		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
ISS
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
OMIM:208900
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... RGD:10053611, RGD:12879399 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 DNA:mutation:exon:c.342C>T(human) 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 DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) 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 DNA:deletion:intron:IVS4-12delTC(human) 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 | 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 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 Annotator: match by term: Louis-Bar syndrome
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: Cerebello-oculocutaneous telangiectasia		 ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G C8h11orf87 similar to human chromosome 11 open reading frame 87 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 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 Cfap68 cilia and flagella associated protein 68 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 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 8:4,189,067...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 8:11,209,113...11,238,507
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 protein:altered localization:nucleus: 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...51,094,528
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Ifng interferon gamma ISO 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 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 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...4,733,864
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 8:6,072,673...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 8:54,088,246...54,105,867
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 8:50,944,702...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 8:4,922,077...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:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
CTD
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:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... 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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3		 OMIM
CTD
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-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 type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		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:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 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:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 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 Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 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 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:16199547 PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 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:27959697 PMID:28492532 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
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM:614322		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 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
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition
OMIM:614831		 OMIM
ClinVar
MouseDO		 PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 More... 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 Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 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 recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition 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:28492532 More... NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
OMIM:615768		 OMIM
ClinVar
MouseDO		 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
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864 		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
ISS		 OMIM:616204
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18		 OMIM
MouseDO
ClinVar		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome		 OMIM
CTD
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 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 | ClinVar Annotator: match by term: CPD III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... 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
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
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 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar		 PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... 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 | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26581903 PMID:28492532 PMID:29419818 PMID:30531813 More... 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: Spinocerebellar ataxia, autosomal recessive 23 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...104,680,915
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 chr20:47,798,217...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 PMID:28097321 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:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr17:46,063,132...46,227,533
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:28492532 PMID:29383861 PMID:29764912 NCBI chr17:63,795,670...63,827,317
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:25741868 PMID:34161705 PMID:35405176 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:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
autosomal recessive spinocerebellar ataxia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 OMIM
ClinVar		 PMID:27863452 NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696 		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 | ClinVar Annotator: match by term: VPS13D-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 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 | ClinVar Annotator: match by term: TPP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 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: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 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 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 Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:24728327 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 OMIM
ClinVar
CTD
RGD		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 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
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
ISS		 OMIM:601238
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cayman type cerebellar ataxia		 OMIM
MouseDO
CTD
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, 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
ClinVar Annotator: match by term: Dysequilibrium syndrome		 CTD
MouseDO
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:16199547 PMID:18043714 PMID:18326629 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 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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 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:16199547 PMID:18043714 PMID:18326629 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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:26437881 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 More... NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223 		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
ISS		 ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM:270550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 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
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Fxn frataxin treatment
onset		 ISO
ISS		 DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
DNA:repeat,deletion:intron,exon:GAA(human)
CTD Direct Evidence: marker/mechanism
DNA:repeat:intron:GAA (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:8596916 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 More... RGD:1598961, RGD:401793713, RGD:401793711, RGD:401793708, RGD:401793707, RGD:401717566, RGD:1582636 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9090376 PMID:9737785 PMID:10913738 PMID:19775837 PMID:25566998 More... NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		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...63,827,317
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 DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		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
ISS		 ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
OMIM:612016
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO
ISS		 OMIM:607250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1		 OMIM
MouseDO
CTD
ClinVar		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 More... NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 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 Setx senataxin ISO ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
spinocerebellar ataxia with axonal neuropathy type 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:28492532 PMID:29718187 PMID:30885959 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          hereditary ataxia 640
            cerebellar ataxia 474
              autosomal recessive cerebellar ataxia 165
                Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
                Cayman type cerebellar ataxia 1
                Charlevoix-Saguenay spastic ataxia 4
                Friedreich ataxia + 3
                Marinesco-Sjogren syndrome 2
                ataxia telangiectasia + 101
                ataxia with oculomotor apraxia type 1 3
                ataxia with oculomotor apraxia type 3 1
                ataxia-oculomotor apraxia type 4 1
                autosomal recessive spinocerebellar ataxia 10 1
                autosomal recessive spinocerebellar ataxia 11 1
                autosomal recessive spinocerebellar ataxia 12 2
                autosomal recessive spinocerebellar ataxia 13 1
                autosomal recessive spinocerebellar ataxia 14 2
                autosomal recessive spinocerebellar ataxia 15 1
                autosomal recessive spinocerebellar ataxia 16 4
                autosomal recessive spinocerebellar ataxia 17 1
                autosomal recessive spinocerebellar ataxia 18 1
                autosomal recessive spinocerebellar ataxia 19 1
                autosomal recessive spinocerebellar ataxia 2 1
                autosomal recessive spinocerebellar ataxia 20 2
                autosomal recessive spinocerebellar ataxia 21 1
                autosomal recessive spinocerebellar ataxia 22 1
                autosomal recessive spinocerebellar ataxia 23 1
                autosomal recessive spinocerebellar ataxia 24 1
                autosomal recessive spinocerebellar ataxia 25 1
                autosomal recessive spinocerebellar ataxia 26 1
                autosomal recessive spinocerebellar ataxia 27 1
                autosomal recessive spinocerebellar ataxia 28 1
                autosomal recessive spinocerebellar ataxia 29 1
                autosomal recessive spinocerebellar ataxia 3 0
                autosomal recessive spinocerebellar ataxia 30 1
                autosomal recessive spinocerebellar ataxia 31 1
                autosomal recessive spinocerebellar ataxia 32 1
                autosomal recessive spinocerebellar ataxia 33 1
                autosomal recessive spinocerebellar ataxia 4 1
                autosomal recessive spinocerebellar ataxia 6 0
                autosomal recessive spinocerebellar ataxia 7 1
                autosomal recessive spinocerebellar ataxia 8 8
                cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
                mitochondrial DNA depletion syndrome 7 3
                primary coenzyme Q10 deficiency 4 2
Path 2
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  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Ataxia 962
                  Spinocerebellar Ataxias 550
                    cerebellar ataxia 474
                      autosomal recessive cerebellar ataxia 165
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
                        Cayman type cerebellar ataxia 1
                        Charlevoix-Saguenay spastic ataxia 4
                        Friedreich ataxia + 3
                        Marinesco-Sjogren syndrome 2
                        ataxia telangiectasia + 101
                        ataxia with oculomotor apraxia type 1 3
                        ataxia with oculomotor apraxia type 3 1
                        ataxia-oculomotor apraxia type 4 1
                        autosomal recessive spinocerebellar ataxia 10 1
                        autosomal recessive spinocerebellar ataxia 11 1
                        autosomal recessive spinocerebellar ataxia 12 2
                        autosomal recessive spinocerebellar ataxia 13 1
                        autosomal recessive spinocerebellar ataxia 14 2
                        autosomal recessive spinocerebellar ataxia 15 1
                        autosomal recessive spinocerebellar ataxia 16 4
                        autosomal recessive spinocerebellar ataxia 17 1
                        autosomal recessive spinocerebellar ataxia 18 1
                        autosomal recessive spinocerebellar ataxia 19 1
                        autosomal recessive spinocerebellar ataxia 2 1
                        autosomal recessive spinocerebellar ataxia 20 2
                        autosomal recessive spinocerebellar ataxia 21 1
                        autosomal recessive spinocerebellar ataxia 22 1
                        autosomal recessive spinocerebellar ataxia 23 1
                        autosomal recessive spinocerebellar ataxia 24 1
                        autosomal recessive spinocerebellar ataxia 25 1
                        autosomal recessive spinocerebellar ataxia 26 1
                        autosomal recessive spinocerebellar ataxia 27 1
                        autosomal recessive spinocerebellar ataxia 28 1
                        autosomal recessive spinocerebellar ataxia 29 1
                        autosomal recessive spinocerebellar ataxia 3 0
                        autosomal recessive spinocerebellar ataxia 30 1
                        autosomal recessive spinocerebellar ataxia 31 1
                        autosomal recessive spinocerebellar ataxia 32 1
                        autosomal recessive spinocerebellar ataxia 33 1
                        autosomal recessive spinocerebellar ataxia 4 1
                        autosomal recessive spinocerebellar ataxia 6 0
                        autosomal recessive spinocerebellar ataxia 7 1
                        autosomal recessive spinocerebellar ataxia 8 8
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
                        mitochondrial DNA depletion syndrome 7 3
                        primary coenzyme Q10 deficiency 4 2
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