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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
For additional species annotation, visit the Alliance of Genome Resources.


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 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
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 PMID:26640698 PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980 PMID:24033266 PMID:25843669 PMID:26467025 PMID:27782104 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675
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 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27884168 PMID:28492532 PMID:30311386 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
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:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1953577 PMID:2491181 PMID:2557216 PMID:2798560 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 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PMID:30093976 PMID:30128536 PMID:30181556 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30256826 PMID:30262796 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311386 PMID:30363071 PMID:30374176 PMID:30389154 PMID:30402232 PMID:30426508 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30584090 PMID:30607632 PMID:30620386 PMID:30651582 PMID:30666157 PMID:30713859 PMID:30713931 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30883245 PMID:30927251 PMID:30938815 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173964 PMID:31227566 PMID:31263571 PMID:31341520 PMID:31360874 PMID:31422574 PMID:31428572 PMID:31666926 PMID:31719806 PMID:31742824 PMID:31780696 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31882575 PMID:31919090 PMID:31920950 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32183364 PMID:32325837 PMID:32488064 PMID:32566746 PMID:32860008 PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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 chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
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 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 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: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14586414 PMID:14627829 PMID:14654357 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16189143 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19781682 PMID:19823873 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24416720 PMID:24448499 PMID:24451234 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24728327 PMID:24733792 PMID:24789685 PMID:24951259 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25793145 PMID:25877891 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26182300 PMID:26206375 PMID:26220245 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27083775 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28093192 PMID:28093616 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28975465 PMID:29036293 PMID:29141312 PMID:29335925 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29522266 PMID:29555771 PMID:29566657 PMID:29596542 PMID:29600275 PMID:29664460 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29888287 PMID:29909963 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:30067863 PMID:30086788 PMID:30128536 PMID:30197789 PMID:30214756 PMID:30256826 PMID:30287823 PMID:30303537 PMID:30311386 PMID:30363071 PMID:30374176 PMID:30426508 PMID:30447919 PMID:30504431 PMID:30549301 PMID:30607632 PMID:30620386 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30927251 PMID:30982232 PMID:31054420 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31341520 PMID:31780696 PMID:31843900 PMID:31919090 PMID:31920950 PMID:31948886 PMID:32039725 PMID:32183364 PMID:32566746 PMID:32860008 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
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:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16858402 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24549055 PMID:24556621 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26057807 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30441849 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15790557 PMID:15852392 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17242337 PMID:21465257 PMID:23659632 PMID:24033266 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:32214227, PMID:21465257, PMID:17572444, PMID:12196655 RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002
OMIM
ClinVar
PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29650794 PMID:30311386 PMID:32165824 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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 OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:28492532 PMID:30039206 PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
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
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28849312 PMID:29170652 PMID:29348823 PMID:29752822 PMID:29922827 PMID:30441849 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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: Spinocerebellar ataxia, autosomal recessive 10
ClinVar Annotator: match by OMIM:613728
OMIM
ClinVar
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25425649 PMID:25664549 PMID:25730773 PMID:25741868 PMID:26467025 PMID:27091155 PMID:27142713 PMID:27270446 PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
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: Spinocerebellar ataxia, autosomal recessive 11
ClinVar Annotator: match by OMIM:614229
OMIM
ClinVar
PMID:21835308 NCBI chr13:111,630,005...111,766,334
Ensembl chr13:111,635,639...111,765,944
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: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar PMID:24369382 PMID:28492532 PMID:32214227 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by OMIM:614322
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:17470496 PMID:24369382 PMID:25411445 PMID:25741868 PMID:28492532 PMID:29358611 PMID:32214227 NCBI chr19:46,761,353...47,695,247 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: Spinocerebellar ataxia, autosomal recessive 13 OMIM
ClinVar
PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:31319223 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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: Spinocerebellar ataxia, autosomal recessive 14
ClinVar Annotator: match by OMIM:615386
OMIM
ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29590070 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
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: Spinocerebellar ataxia, autosomal recessive 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 PMID:32450808 NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
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: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar PMID:24113144 PMID:24742043 PMID:25741868 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by OMIM:615768
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar
OMIM
PMID:24113144 PMID:24312598 PMID:24742043 PMID:25258038 PMID:25741868 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
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: Spinocerebellar ataxia, autosomal recessive 17
ClinVar Annotator: match by OMIM:616127
OMIM
ClinVar
PMID:15981765 PMID:18414213 PMID:25361784 PMID:25741868 PMID:26197978 PMID:27016154 NCBI chr 1:263,887,014...263,910,251
Ensembl chr 1:263,887,015...263,910,251
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: Spinocerebellar ataxia, autosomal recessive 18 OMIM
ClinVar
PMID:23611888 PMID:24078737 PMID:25741868 NCBI chr 4:94,068,112...95,476,864
Ensembl chr 4:94,696,965...95,442,778
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 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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: Spinocerebellar ataxia, autosomal recessive 2 ClinVar
OMIM
PMID:10528257 PMID:25808372 PMID:26657514 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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: Spinocerebellar ataxia, autosomal recessive 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: Spinocerebellar ataxia, autosomal recessive 20 OMIM
ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
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: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868 PMID:29419818 PMID:32860008 NCBI chr 1:221,115,992...221,129,668
Ensembl chr 1:221,115,860...221,129,654
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 ClinVar
OMIM
PMID:26157035 NCBI chr 9:43,607,066...43,779,466
Ensembl chr 9:43,607,669...43,779,463
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 ClinVar
OMIM
PMID:24658003 PMID:30109272 NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
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 ClinVar
OMIM
PMID:26872069 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
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 chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
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 ClinVar
OMIM
PMID:28002403 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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:30084953 NCBI chr 2:202,470,485...202,526,849
Ensembl chr 2:202,470,487...202,526,849
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 chr10:31,043,647...31,052,092
Ensembl chr10:31,043,688...31,052,102
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: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
OMIM
ClinVar
PMID:9295267 PMID:9788728 PMID:10330339 PMID:11339651 PMID:12376936 PMID:15317752 PMID:15520412 PMID:18684116 PMID:20340139 PMID:22612257 PMID:23418007 PMID:23539563 PMID:25356970 PMID:25741868 PMID:26224725 PMID:28335910 PMID:28492532 PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
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: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,461,277...42,467,646
Ensembl chr 1:42,461,291...42,467,586
JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,475,791...42,485,999
Ensembl chr 1:42,475,792...42,486,035
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,121,572...42,132,131
Ensembl chr 1:42,121,636...42,131,547
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25326637 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,491,566...42,587,735
Ensembl chr 1:42,492,761...42,587,721
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:610743
OMIM
ClinVar
PMID:17159980 PMID:17503513 PMID:17761684 PMID:18414213 PMID:21572417 PMID:22287014 PMID:23325900 PMID:23352163 PMID:23959263 PMID:24033266 PMID:24123366 PMID:24123876 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25843669 PMID:25976027 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:27782104 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28687974 PMID:28750076 PMID:28798025 PMID:29389947 PMID:29482223 PMID:29625556 PMID:29961767 PMID:30029642 PMID:30275942 PMID:30311386 PMID:30564623 PMID:30573412 PMID:32488064, PMID:27086870 RGD:13209001 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 PMID:21533915 PMID:23283745 PMID:23610579 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25741868 PMID:27532257 PMID:28193612 PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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:27683825 PMID:29718187 PMID:30885959 NCBI chr 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509
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: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
ClinVar Annotator: match by OMIM:601238
OMIM
ClinVar
PMID:14556008 PMID:28492532 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
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 chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Ca8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by OMIM:224050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
CTD
PMID:18326629 PMID:18364738 PMID:25741868 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
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, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:22700954 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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, mental retardation, and dysequilibrium syndrome 2
ClinVar Annotator: match by OMIM:610185
OMIM
ClinVar
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
ClinVar Annotator: match by OMIM:613227
OMIM
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
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
ClinVar Annotator: match by OMIM:615268
OMIM
ClinVar
PMID:18326629 PMID:22892528 PMID:25741868 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
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 chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25326637 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
PMID:9892370 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27217339 PMID:27288452 PMID:27433545 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29968200 PMID:30680480 PMID:32488064 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
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's ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Friedreich's ataxia
DNA:repeat:intron:GAA (human)
ClinVar
CTD
PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 PMID:10543403 PMID:10732799 PMID:11020385 PMID:11030757 PMID:11843702 PMID:12019217 PMID:12923074 PMID:16120311 PMID:16239244 PMID:16911956 PMID:17101455 PMID:17331979 PMID:17703324 PMID:18537827 PMID:19494730 PMID:19629184 PMID:20098685 PMID:21298097 PMID:22016819 PMID:23418481 PMID:26339677 PMID:26467025 PMID:26704351 PMID:26954031 PMID:28812047 PMID:29272104 PMID:30451920, PMID:10543403, PMID:8596916 RGD:1598961, RGD:1582636 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
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
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:26467025 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
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 PMID:17309654 PMID:18285827 PMID:19471582 PMID:20111056 PMID:22995991 PMID:23062754 PMID:24176978 PMID:24631270 PMID:25741868 PMID:26467025 PMID:26733775 PMID:28492532 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by OMIM:271245
OMIM
ClinVar
PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
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 chr13:98,231,326...98,447,762
Ensembl chr13:98,231,326...98,447,762
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar Annotator: match by OMIM:612016
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12682339 PMID:15326254 PMID:18319072 PMID:18319074 PMID:18414213 PMID:20495179 PMID:22036850 PMID:24033266 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25356970 PMID:25498144 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:27106809 PMID:28125198 PMID:28492532 PMID:30311386 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar
PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          hereditary ataxia 276
            cerebellar ataxia 242
              autosomal recessive cerebellar ataxia 70
                Autosomal Recessive Spinocerebellar Ataxia 28 1
                Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
                Cayman type cerebellar ataxia 1
                Charlevoix-Saguenay spastic ataxia 4
                Friedreich ataxia + 2
                Marinesco-Sjogren syndrome 1
                ataxia telangiectasia + 18
                ataxia with oculomotor apraxia type 1 3
                ataxia with oculomotor apraxia type 2 2
                ataxia with oculomotor apraxia type 3 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 1
                autosomal recessive spinocerebellar ataxia 15 1
                autosomal recessive spinocerebellar ataxia 16 2
                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 3 0
                autosomal recessive spinocerebellar ataxia 4 1
                autosomal recessive spinocerebellar ataxia 6 0
                autosomal recessive spinocerebellar ataxia 7 1
                autosomal recessive spinocerebellar ataxia 8 9
                cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
                mitochondrial DNA depletion syndrome 7 2
                primary coenzyme Q10 deficiency 4 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Ataxia 391
                  Spinocerebellar Ataxias 279
                    cerebellar ataxia 242
                      autosomal recessive cerebellar ataxia 70
                        Autosomal Recessive Spinocerebellar Ataxia 28 1
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
                        Cayman type cerebellar ataxia 1
                        Charlevoix-Saguenay spastic ataxia 4
                        Friedreich ataxia + 2
                        Marinesco-Sjogren syndrome 1
                        ataxia telangiectasia + 18
                        ataxia with oculomotor apraxia type 1 3
                        ataxia with oculomotor apraxia type 2 2
                        ataxia with oculomotor apraxia type 3 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 1
                        autosomal recessive spinocerebellar ataxia 15 1
                        autosomal recessive spinocerebellar ataxia 16 2
                        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 3 0
                        autosomal recessive spinocerebellar ataxia 4 1
                        autosomal recessive spinocerebellar ataxia 6 0
                        autosomal recessive spinocerebellar ataxia 7 1
                        autosomal recessive spinocerebellar ataxia 8 9
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
                        mitochondrial DNA depletion syndrome 7 2
                        primary coenzyme Q10 deficiency 4 2
paths to the root