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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:cerebellar disease
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Accession:DOID:2786 term browser browse the term
Definition:Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Synonyms:exact_synonym: Cerebellar Disorder;   Cerebellar Disorders;   Cerebellar Dysfunction;   Cerebellar Dysfunctions;   Cerebellar Syndrome;   Cerebellar Syndromes;   Cerebellum Disease;   Cerebellum Diseases;   cerebellar diseases
 primary_id: MESH:D002526;   RDO:0000428
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cerebellar disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20371615 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:15543146, PMID:19650412 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252230 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29326173 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zfp423 zinc finger protein 423 ISS MouseDO NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 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:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14627829, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17001642, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26896183, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27854218, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28119368, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29659587, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30181556, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30541756, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31173964, PMID:31227566, PMID:31263571, PMID:31341520, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31871109, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32325837, PMID:32488064, PMID:32566746, PMID:32860008, PMID:197781682, PMID: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:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:30982232, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31341520, PMID:31843900, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32566746, PMID:32860008 NCBI 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:15106121, PMID:15732101, PMID:17159128, PMID:18058631, PMID:18414213, PMID:18625865, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:22088787, PMID:23129421, PMID:23757202, PMID:23806086, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26257172, PMID:26467025, PMID:26601740, PMID:26633545, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28832565, PMID:29650794, PMID:30311386 NCBI chr 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:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI 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 dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
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
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:26467025 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: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 Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
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 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: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 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
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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 angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:7581394, PMID:7668254, PMID:9425230, PMID:19129531, PMID:22280810, PMID:23566833, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Aga aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:23757202, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:29482223, PMID:30097039, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO
ISS
ClinVar Annotator: match by term: Cerebellar ataxia ClinVar
MouseDO
PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:3837850, PMID:8445615, PMID:11161796, PMID:16088929, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:150,660,665...150,752,016
Ensembl chr 3:150,686,638...150,749,827
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823, PMID:19420365, PMID:20651251, PMID:20807765, PMID:32581362 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763, PMID:16043786, PMID:16835246, PMID:17296794, PMID:17959936, PMID:18316077, PMID:19812251, PMID:20008656, PMID:21508331, PMID:24957169, PMID:25741868, PMID:26467025, PMID:26801520, PMID:27100445, PMID:28492532, PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:8042671, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:24986921, PMID:25741868, PMID:26633545, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:122,803,726...122,808,564
Ensembl chr 3:122,803,772...122,808,558
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:31474318, PMID:32581362, PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28182637, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:174,132,798...174,135,816
Ensembl chr 1:174,132,798...174,135,816
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810, PMID:25741868 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia
DNA:nonsense, missense mutations:introns,exons:
ClinVar PMID:26467025, PMID:28492532, PMID:30311386, PMID:17503513 RGD:13209009 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 Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:18953340, PMID:20937241, PMID:21815885, PMID:22433607, PMID:24485043, PMID:25741868, PMID:26550569, PMID:28492532, PMID:30311386 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:235,352,513...235,813,597
Ensembl chr 1:235,653,121...235,813,030
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17436253, PMID:25741868, PMID:29681091, PMID:30311386 NCBI chr  X:135,005,171...135,041,207
Ensembl chr  X:135,005,123...135,041,027
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 41 OMIM
ClinVar
PMID:25477146 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 42 ClinVar
OMIM
PMID:25741868, PMID:26456284, PMID:26715324, PMID:28492532, PMID:32860008 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:25741868, PMID:27583304 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 ClinVar
OMIM
PMID:25741868, PMID:29474920 NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar PMID:30381368, PMID:32488064 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar
OMIM
PMID:30381368, PMID:32488064 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
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:25558065, PMID:25741868, PMID:26437881, PMID:28097321, PMID:28492532, PMID:28969387 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:22912588, PMID:25590979, PMID:25741868, PMID:27679995, PMID:28454995 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar NCBI chr 2:140,310,374...140,399,312
Ensembl chr 2:140,310,375...140,387,505
JBrowse link
G Rfc1 replication factor C subunit 1 ISO OMIM NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:24358150, PMID:28492532, PMID:29997391, PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY ClinVar PMID:29997391, PMID:30410802 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ClinVar
OMIM
PMID:25741868, PMID:27567911, PMID:29545233 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar
OMIM
PMID:25741868, PMID:26942288, PMID:27657687, PMID:28492532 NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxr1 oxidation resistance 1 ISO OMIM NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Ascc3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:55,253,670...55,557,249
Ensembl chr20:55,253,686...55,556,473
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21735175, PMID:25326635, PMID:25741868, PMID:31474318, PMID:32581362 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:26235985, PMID:31474318 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31474318 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:10649495, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:15605411, PMID:15690354, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18429048, PMID:18586596, PMID:19459886, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:22812582, PMID:23426826, PMID:23588557, PMID:24126159, PMID:25435509, PMID:25741868, PMID:25946768, PMID:26847548, PMID:27094865, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:8929944, PMID:16650080, PMID:31474318 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386, PMID:31474318 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:27322474, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31474318 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31785787 NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378, PMID:32581362 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10571956, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11156536, PMID:11343337, PMID:11517108, PMID:11589167, PMID:11891694, PMID:11916319, PMID:15714316, PMID:15844218, PMID:16376131, PMID:16825284, PMID:17166182, PMID:17920054, PMID:18948042, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25497157, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:27415628, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30311386, PMID:30740725, PMID:31474318, PMID:32581362, PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386, PMID:31474318 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31474318, PMID:32963807 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:28492532, PMID:31474318 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:237,461...285,125
Ensembl chr20:237,506...284,943
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15520412, PMID:18684116, PMID:23418007, PMID:23539563, 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
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957, PMID:25741868, PMID:31474318 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
Cerebellar, Ocular, Craniofacial, and Genital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mab21l1 mab-21 like 1 ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM
ClinVar
PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,174,876...145,177,265
Ensembl chr 2:145,174,876...145,177,265
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME ClinVar PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,011,648...145,513,439 JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
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 Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637, PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29389947, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480, PMID:32488064 NCBI 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
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 NCBI chr15:104,186,918...104,226,236
Ensembl chr15:104,186,792...104,226,329
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350, PMID:22563501, PMID:24220513, PMID:32214227 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ClinVar
OMIM
PMID:25388005 NCBI chr17:77,642,302...77,918,210 JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969, PMID:8062435, PMID:11772994, PMID:28492532, PMID:30311386 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28334876, PMID:29226947, PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532, PMID:31474318 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:48,779,110...48,805,644
Ensembl chr  X:48,779,110...48,805,644
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:17584854, PMID:18669490, PMID:18728072, PMID:18954413, PMID:20466733, PMID:22264709, PMID:23361065, PMID:23528852, PMID:24860126, PMID:25008804, PMID:25741868, PMID:26795593, PMID:30744660, PMID:31474318 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Zfp423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003
JBrowse link
G Zic1 Zic family member 1 ISO
ISS
OMIM:220200 MouseDO PMID:15338008 RGD:1599905 NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
JBrowse link
G Zic4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 8:98,755,104...98,760,737
Ensembl chr 8:98,745,310...98,761,840
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Episodic ataxia, type 5 OMIM
ClinVar
PMID:10762541, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia, type 6
ClinVar Annotator: match by OMIM:612656
OMIM
ClinVar
PMID:16116111, PMID:19139306, PMID:23107647, PMID:24214974, PMID:25497598, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:57,860,881...57,935,363
Ensembl chr 2:57,860,834...57,935,363
JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by OMIM:141500
ClinVar Annotator: match by term: Familial hemiplegic migraine type 1
ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1564484, PMID:3358708, PMID:7537420, PMID:8734765, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9488686, PMID:9559993, PMID:9879686, PMID:9915947, PMID:10024348, PMID:10408532, PMID:10408534, PMID:10734061, PMID:10987655, PMID:11061267, PMID:11176968, PMID:11179022, PMID:11409427, PMID:11439943, PMID:11564488, PMID:11723274, PMID:11814735, PMID:11960817, PMID:11971066, PMID:11985388, PMID:12056940, PMID:12111613, PMID:12707077, PMID:12756131, PMID:14718690, PMID:15032980, PMID:15240985, PMID:15300451, PMID:15452324, PMID:15483044, PMID:15710862, PMID:15795222, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16866717, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18056581, PMID:18313928, PMID:18400034, PMID:18498393, PMID:18541804, PMID:18644040, PMID:18940563, PMID:19484318, PMID:19586927, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22000314, PMID:22190617, PMID:22249839, PMID:22527033, PMID:22784462, PMID:22969264, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:23961289, PMID:24270521, PMID:24486772, PMID:24498617, PMID:24849341, PMID:25266619, PMID:25274239, PMID:25326635, PMID:25735478, PMID:25741868, PMID:25758715, PMID:25969684, PMID:26467025, PMID:26814174, PMID:27066515, PMID:27290639, PMID:27476654, PMID:28007337, PMID:28169007, PMID:28492532, PMID:28742085, PMID:28978442, PMID:29056246, PMID:29100083, PMID:30063100, PMID:30283815, PMID:30311386, PMID:97053792 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868, PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790, PMID:15879500, PMID:21158752, PMID:23399955, PMID:24055113, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656, PMID:12030328, PMID:16217710, PMID:20531441, PMID:25466283, PMID:25741868, PMID:25873735, PMID:26070982, PMID:26123727, PMID:30315938 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328, PMID:20531441, PMID:25741868, PMID:26123727 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ClinVar
OMIM
PMID:12693786, PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar
OMIM
PMID:11519896, PMID:15966048, PMID:17897280, PMID:18019379, PMID:21791310, PMID:28272532, PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM
PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6 OMIM
ClinVar
PMID:25741868, PMID:26416026, PMID:28617965, PMID:29597095, PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065, PMID:25741868, PMID:28117080, PMID:28280135, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8 OMIM
ClinVar
PMID:11793129, PMID:30427554 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360, PMID:11445634, PMID:12611586, PMID:14981189, PMID:17030759, PMID:17558851, PMID:17590087, PMID:18579805, PMID:21367767, PMID:22986007, PMID:23495097, PMID:25574826, PMID:25741868, PMID:25794864, PMID:26770814, PMID:27062503, PMID:27108797, PMID:27108798, PMID:27862915, PMID:28488678, PMID:28659154, PMID:29169895, PMID:29925855, PMID:32499604 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 ClinVar
OMIM
PMID:25741868, PMID:29100095 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar Annotator: match by OMIM:212840
OMIM
ClinVar
PMID:11932290, PMID:23656588, PMID:25741868, PMID:25841028 NCBI chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:31130284, PMID:32214227, PMID:32519519 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868, PMID:30689204, PMID:31130284, PMID:32519519 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
Joubert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15322546, PMID:16155189, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:22236771, PMID:22693042, PMID:22773737, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25616960, PMID:25741868, PMID:25920555, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28431631, PMID:28442542, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:21493627, PMID:24886560, PMID:25741868, PMID:25920555, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:82,473,254...82,479,704
Ensembl chr 1:82,473,737...82,479,900
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988, PMID:25741868, PMID:26092869 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:18414213, PMID:18950740, PMID:19466712, PMID:19574260, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22246503, PMID:22425360, PMID:22995991, PMID:23012439, PMID:23692786, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:26673778, PMID:27081510, PMID:27082236, PMID:27848944, PMID:27854218, PMID:27894351, PMID:28492532, PMID:30267408, PMID:30311386, PMID:32488064 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21493627, PMID:21602930, PMID:21866095, PMID:22334370, PMID:22355252, PMID:22693042, PMID:22699515, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:24850569, PMID:25097241, PMID:25377065, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:26673778, PMID:27032803, PMID:27353947, PMID:27422788, PMID:27491411, PMID:27821535, PMID:27848944, PMID:28041643, PMID:28157192, PMID:28224992, PMID:28453600, PMID:28492532, PMID:28497568, PMID:28510626, PMID:28559085, PMID:28660274, PMID:28771248, PMID:28829391, PMID:28973549, PMID:29146704, PMID:29178642, PMID:29186038, PMID:29343940, PMID:29398085, PMID:29588463, PMID:29844330, PMID:29970488, PMID:30193310, PMID:30311386, PMID:30718709, PMID:31680349 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr10:11,847,058...11,878,792
Ensembl chr10:11,847,102...11,878,792
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22425360, PMID:24033266, PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 1:226,620,933...226,642,246
Ensembl chr 1:226,634,009...226,642,243
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr19:57,647,305...57,649,794
Ensembl chr19:57,647,291...57,649,827
JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr15:4,361,860...4,399,746
Ensembl chr15:4,361,862...4,399,685
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar PMID:15786477, PMID:18414213, PMID:19668215, PMID:19668216, PMID:23034536, PMID:23386033, PMID:23847139, PMID:25133751, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27081510, PMID:28492532, PMID:28559085, PMID:29052317, PMID:29186038, PMID:29230161, PMID:29555955, PMID:30202406, PMID:23386033 RGD:12911208 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 1:197,098,621...197,265,840
Ensembl chr 1:197,098,603...197,265,840
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
G LOC500827 similar to hypothetical protein FLJ35821 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:40,316,165...40,350,482
Ensembl chr 7:40,316,639...40,350,474
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:116,370,013...116,391,964
Ensembl chr 2:116,372,519...116,391,959
JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 2:88,384,796...88,414,012
Ensembl chr 2:88,384,796...88,414,012
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:19466712, PMID:21068128, PMID:21228398, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:24608809, PMID:24886560, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:26862157, PMID:27377014, PMID:27570071, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30311386, PMID:30718709 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11179005, PMID:12595504, PMID:16311594, PMID:16783569, PMID:18414213, PMID:18546297, PMID:23033313, PMID:24476948, PMID:24884629, PMID:25741868, PMID:26467025, PMID:27081566, PMID:28289185, PMID:28492532 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr19:43,107,852...43,149,243
Ensembl chr19:43,109,427...43,149,210
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr 6:135,475,470...135,552,155
Ensembl chr 6:135,513,650...135,548,201
Ensembl chr 6:135,513,650...135,548,201
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:16682973, PMID:16909394, PMID:17564967, PMID:19764032, PMID:20683928, PMID:23954617, PMID:24850569, PMID:25741868, PMID:27821535, PMID:28492532, PMID:29588463, PMID:30193310 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:17558407, PMID:17558409, PMID:17960139, PMID:18414213, PMID:18565097, PMID:19430481, PMID:21866095, PMID:22693042, PMID:23188109, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29620724, PMID:29991045, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:21565611, PMID:22331178, PMID:24033266, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 1:226,623,861...226,630,911
Ensembl chr 1:226,623,861...226,630,900
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
JBrowse link
G Tmem216 transmembrane protein 216 ISO DNA:missense mutation:exon:c.218G>T(p.R73L)(human)
ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:17603801, PMID:22152675, PMID:22981120, PMID:24033266, PMID:25741868, PMID:28492532, PMID:22152675 RGD:11561921 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:2929661, PMID:9375913, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21493627, PMID:21633164, PMID:21866095, PMID:23351400, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26191240, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28125082, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28719906, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:32453716 NCBI chr 6:86,713,588...86,780,134
Ensembl chr 6:86,713,604...86,780,147
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16963483, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:29767709, PMID:30245029 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zic1 Zic family member 1 ISS MouseDO NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:15322546, PMID:15467982, PMID:16453322, PMID:25616960, PMID:25741868, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560, PMID:26092869 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:18950740, PMID:19777577, PMID:21068128, PMID:22241855, PMID:22425360, PMID:22995991, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452