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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:Spinocerebellar Ataxias
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Accession:DOID:9002121 term browser browse the term
Definition:A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Synonyms:exact_synonym: cerebellar degeneration with slow eye movements;   dominantly inherited spinocerebellar ataxias;   dominantly-inherited spinocerebellar ataxia;   spinocerebellar ataxia;   spinocerebellar atrophies;   spinocerebellar atrophy
 narrow_synonym: SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13;   spinocerebellar ataxia, dominant;   spinocerebellar ataxia, recessive
 xref: MESH:D020754

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Spinocerebellar Ataxias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr22:4,807,612...5,050,437
Ensembl chr22:4,805,218...5,050,158 		JBrowse link
G ATXN1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269 PMID:16122429 PMID:17322884 PMID:18337722 NCBI chr17:55,810,621...55,832,565
Ensembl chr17:55,810,279...55,832,472 		JBrowse link
G ATXN10 ataxin 10 susceptibility ISO DNA:repeat:intron 9 RGD PMID:11017075 RGD:1599410 NCBI chr19:28,128,644...28,307,061
Ensembl chr19:28,128,688...28,308,617 		JBrowse link
G ATXN1L ataxin 1 like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr 5:54,987,876...54,996,932
Ensembl chr 5:54,989,527...54,991,596 		JBrowse link
G ATXN2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595 PMID:20065139 NCBI chr11:106,704,532...106,860,450
Ensembl chr11:106,705,127...106,859,337 		JBrowse link
G ATXN7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr22:24,897,045...25,046,188
Ensembl chr22:24,945,248...25,033,687 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A onset ISO protein:altered expression:Purkinje cell:
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds: 		RGD
CTD		 PMID:8988170 PMID:10369863 PMID:10945665 PMID:11985388 PMID:16899342 RGD:10054421 RGD:10054466 RGD:1358570 NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843 		JBrowse link
G CAPN1 calpain 1 ISO Ataxia, spinocerebellar, CAPN1-related OMIA PMID:2061870 PMID:4747697 PMID:15320590 PMID:22634896 PMID:22872628 More... NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804 		JBrowse link
G CASP7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chr 9:106,558,291...106,607,662
Ensembl chr 9:106,559,445...106,607,663 		JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:69,035,317...69,185,353
Ensembl chr24:69,034,992...69,184,800 		JBrowse link
G CIC capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 6:36,472,991...36,500,479 JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:93,266,730...93,301,095
Ensembl chr 9:93,266,799...93,295,320 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26344056 PMID:26467025 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:19,227,209...19,305,789
Ensembl chr17:19,277,593...19,307,625 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:28492532 PMID:35401678 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:28492532 NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717 		JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,585,532...42,079,977 JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:25,380,855...25,816,945 JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 PMID:27001614 More... NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G KAT2A lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr16:64,146,146...64,154,726
Ensembl chr16:64,146,207...64,154,252 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr11:36,490,775...36,634,215
Ensembl chr11:36,492,011...36,634,216 		JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:35,577,460...35,681,730
Ensembl chr15:35,580,714...35,633,914 		JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:53,882,070...53,887,867
Ensembl chr 2:53,882,169...53,887,565 		JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO CTD Direct Evidence: marker/mechanism
DNA:repeat, SNPs, haplotype:multiple 		CTD
RGD		 PMID:18940801 PMID:20629122 RGD:5686297 NCBI chr23:49,164,026...49,645,347 JBrowse link
G PRKCG protein kinase C gamma ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds: (human) 		CTD
RGD		 PMID:12644968 PMID:20398063 RGD:737790 NCBI chr 6:46,574,560...46,600,329
Ensembl chr 6:46,575,439...46,600,364 		JBrowse link
G RBM17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 9:6,213,477...6,240,945
Ensembl chr 9:6,221,570...6,239,678 		JBrowse link
G RUBCN rubicon autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:91,401,565...91,468,837
Ensembl chr15:91,400,031...91,457,933 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763 		JBrowse link
G SNX14 sorting nexin 14 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:25741868 PMID:25848753 NCBI chr13:10,172,960...10,265,852
Ensembl chr13:10,173,023...10,265,766 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:27965395 PMID:28492532 NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G SYT14 synaptotagmin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:19,303,593...19,518,468
Ensembl chr25:19,305,518...19,448,687 		JBrowse link
G TBP TATA-box binding protein onset ISO DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) RGD PMID:11448935 PMID:21705419 RGD:5684014 RGD:5684015 NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497 		JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,582,857...47,599,871
Ensembl chr17:47,583,014...47,600,628 		JBrowse link
G TGM6 transglutaminase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:54,100,262...54,152,019
Ensembl chr 2:54,101,063...54,139,923 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:69,160,569...69,233,322
Ensembl chr 7:69,158,867...69,231,858 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18037885 NCBI chr26:40,048,802...40,228,083
Ensembl chr26:40,048,943...40,231,228 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:25741868 NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		JBrowse link
G VWA3B von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,804,752...2,039,785
Ensembl chr14:1,812,852...1,985,116 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr15:8,730,456...8,789,379
Ensembl chr15:8,731,278...8,788,523 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr15:8,408,615...8,426,838
Ensembl chr15:8,408,400...8,429,990 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr15:8,420,789...8,486,681
Ensembl chr15:8,421,654...8,486,384 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:97,475,415...97,498,522
Ensembl chr 1:97,475,481...97,499,573 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,552,760...99,580,079
Ensembl chr 1:99,552,838...99,579,914 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,126,430...103,222,890
Ensembl chr 1:103,126,436...103,209,042 		JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:98,929,404...98,996,932
Ensembl chr 1:98,931,375...98,991,732 		JBrowse link
G AMOTL1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:85,927,458...86,080,239
Ensembl chr 1:85,996,908...86,079,857 		JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,266,994...93,295,200
Ensembl chr 1:93,267,612...93,284,169 		JBrowse link
G ANKRD49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:85,694,327...85,700,585
Ensembl chr 1:85,694,365...85,699,352 		JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:101,920,074...102,047,171
Ensembl chr 1:101,921,839...102,046,751 		JBrowse link
G ARHGAP42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:92,064,404...92,384,103
Ensembl chr 1:92,065,132...92,382,915 		JBrowse link
G ATM ATM serine/threonine kinase 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: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome 		ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr17:38,492,776...38,502,534
Ensembl chr17:38,492,858...38,501,281 		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 6:42,186,028...42,193,105 JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr19:25,632,837...25,658,951
Ensembl chr19:25,652,945...25,658,541 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,721,449...93,746,638 JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,841,089...102,846,723
Ensembl chr 1:102,828,923...102,832,544
Ensembl chr 1:102,828,923...102,832,544 		JBrowse link
G CARD17 Caspase recruitment domain-containing protein 17 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:96,446,095...96,457,364 JBrowse link
G CASP1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849 		JBrowse link
G CASP5 caspase 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:96,363,677...96,388,966 JBrowse link
G CCDC82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,622,501...87,654,789
Ensembl chr 1:87,622,189...87,653,838 		JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,290,889...93,374,714
Ensembl chr 1:93,291,295...93,374,696 		JBrowse link
G CEP57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,046,915...87,088,999
Ensembl chr 1:87,046,639...87,093,786 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,414,720...93,453,964
Ensembl chr 1:93,414,766...93,454,729 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,229,236...103,234,073
Ensembl chr 1:103,231,439...103,234,056 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:90,912,614...91,742,510
Ensembl chr 1:91,195,724...91,739,825 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,432,034...99,538,296
Ensembl chr 1:99,432,706...99,534,888 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,268,896...103,276,550
Ensembl chr 1:103,268,992...103,276,695 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | 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: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia 		ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		JBrowse link
G CUNH11orf87 chromosome unknown C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:100,839,147...100,846,115
Ensembl chr 1:100,840,648...100,841,241 		JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:86,180,225...86,190,445
Ensembl chr 1:86,179,366...86,190,439 		JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:98,749,892...98,885,698
Ensembl chr 1:98,766,109...98,885,671 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,436,498...94,467,003
Ensembl chr 1:94,436,784...94,466,989 		JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:95,423,135...95,425,366
Ensembl chr 1:95,423,431...95,424,621 		JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:100,089,094...100,369,032
Ensembl chr 1:100,089,153...100,357,309 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,276,780...103,377,110
Ensembl chr 1:103,286,346...103,378,387 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,379,165...103,419,585
Ensembl chr 1:103,380,426...103,420,386 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581 		JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,017,566...99,095,362
Ensembl chr 1:99,046,421...99,094,803 		JBrowse link
G ENDOD1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:86,336,828...86,378,737
Ensembl chr 1:86,337,580...86,377,974 		JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,922,745...100,016,928
Ensembl chr 1:99,919,191...99,984,614 		JBrowse link
G FAM76B family with sequence similarity 76 member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,024,575...87,046,851 JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:101,777,499...101,813,753
Ensembl chr 1:101,777,678...101,816,379 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,224,186...103,229,456
Ensembl chr 1:103,225,050...103,229,138 		JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:85,747,612...85,752,557
Ensembl chr 1:85,748,886...85,750,481 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:97,003,564...97,377,850
Ensembl chr 1:97,004,515...97,378,597 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:98,108,081...98,439,453 JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,848,372...102,874,876
Ensembl chr 1:102,848,429...102,875,013 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,262,807...103,264,150
Ensembl chr 1:103,262,897...103,263,952 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G JRKL JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,654,838...87,658,114
Ensembl chr 1:87,655,482...87,657,056 		JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:97,451,496...97,475,592
Ensembl chr 1:97,449,724...97,475,364 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,878,396...102,900,814
Ensembl chr 1:102,879,428...102,899,743 		JBrowse link
G LOC103248265 lysine-specific demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:86,190,515...86,215,061
Ensembl chr 1:86,212,761...86,214,490 		JBrowse link
G LOC103248364 caspase-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:96,407,252...96,410,894
Ensembl chr 1:96,406,104...96,410,456 		JBrowse link
G LOC103248367 caspase-4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:96,315,781...96,342,057
Ensembl chr 1:96,315,569...96,342,016 		JBrowse link
G LOC103248402 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 1:99,589,818...99,653,031
Ensembl chr 1:99,591,416...99,652,922 		JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,237,786...87,615,305
Ensembl chr 1:87,239,780...87,358,648 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,147,995...94,158,315
Ensembl chr 1:94,148,087...94,158,097 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815 		JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,075,524...94,091,080
Ensembl chr 1:94,075,605...94,090,215 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:94,097,620...94,110,114
Ensembl chr 1:94,097,896...94,109,432 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:97,405,837...97,420,276
Ensembl chr 1:97,407,462...97,420,124 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 PMID:33357406 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 More... NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:87,090,401...87,181,057
Ensembl chr 1:87,087,191...87,180,497 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,430,898...103,441,717
Ensembl chr 1:103,430,941...103,439,817 		JBrowse link
G PDGFD platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:95,293,263...95,551,138
Ensembl chr 1:95,292,193...95,385,199 		JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,423,113...103,430,815
Ensembl chr 1:103,421,117...103,430,727 		JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:85,768,124...85,817,426
Ensembl chr 1:85,768,287...85,817,000 		JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,886,614...99,912,541
Ensembl chr 1:99,887,908...99,912,155 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,692,305...102,719,066 JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,591,385...102,625,441 JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,636,070...102,646,059 JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,058,283...103,110,839
Ensembl chr 1:103,057,915...103,110,102 		JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,353,125...99,388,429
Ensembl chr 1:99,353,210...99,387,262 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,443,666...103,452,681 JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:86,426,258...86,486,465
Ensembl chr 1:86,427,988...86,486,477 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:102,944,171...103,070,973
Ensembl chr 1:102,944,281...103,068,823 		JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:99,226,602...99,292,093
Ensembl chr 1:99,224,798...99,291,899 		JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 Ensembl chr 1:99,138,691...99,138,783 JBrowse link
G SRSF8 serine and arginine rich splicing factor 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:86,313,760...86,316,568 JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:103,441,661...103,443,636
Ensembl chr 1:103,442,144...103,443,611 		JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,767,359...93,822,539
Ensembl chr 1:93,765,365...93,822,806 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:92,828,546...92,970,224
Ensembl chr 1:92,829,253...92,885,086 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 1:101,452,994...101,531,680
Ensembl chr 1:101,453,473...101,525,596 		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 ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991 		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: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) 		OMIM
ClinVar
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207 NCBI chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like syndrome ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 6:43,018,763...43,025,506
Ensembl chr 6:43,018,807...43,025,292 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 NCBI chr16:8,235,891...8,322,347
Ensembl chr16:8,234,962...8,322,320 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 6:43,018,763...43,025,506
Ensembl chr 6:43,018,807...43,025,292 		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 Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		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 term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		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 | ClinVar Annotator: match by term: PCNA-related condition OMIM
ClinVar		 PMID:24911150 PMID:25741868 PMID:28492532 NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991 		JBrowse link
autosomal dominant cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:12,110,100...12,175,935
Ensembl chr 1:12,108,810...12,136,105 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 PMID:35401678 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26489027 PMID:28492532 NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112 		JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20198715 PMID:20383523 PMID:20437544 PMID:21367767 More... NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G KIF26B kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr25:82,177,587...82,735,055
Ensembl chr25:82,631,337...82,734,410 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr18:67,666,982...67,792,792
Ensembl chr18:67,667,690...67,788,981 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104 		JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 6:46,574,560...46,600,329
Ensembl chr 6:46,575,439...46,600,364 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:26740555 PMID:27965395 More... NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:54,100,262...54,152,019
Ensembl chr 2:54,101,063...54,139,923 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr26:40,048,802...40,228,083
Ensembl chr26:40,048,943...40,231,228 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr22:4,807,612...5,050,437
Ensembl chr22:4,805,218...5,050,158 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475 		JBrowse link
G SEPTIN11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr 7:25,449,480...25,541,029
Ensembl chr 7:25,448,672...25,535,055 		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 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr24:67,672,178...67,762,340 JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:21689831 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		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: ANO10-related condition | ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar		 PMID:16199547 PMID:21092923 PMID:24033266 PMID:24123366 PMID:25089919 More... NCBI chr22:4,807,612...5,050,437
Ensembl chr22:4,805,218...5,050,158 		JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYT14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 | ClinVar Annotator: match by term: SYT14-related condition OMIM
ClinVar		 PMID:21835308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:19,303,593...19,518,468
Ensembl chr25:19,305,518...19,448,687 		JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 More... NCBI chr 5:65,064,715...65,078,972 JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY OMIM
ClinVar		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 More... NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition OMIM
ClinVar		 PMID:19146831 PMID:19924463 PMID:21703448 PMID:22448230 PMID:22558107 More... NCBI chr13:25,380,855...25,816,945 JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chr 6:46,574,560...46,600,329
Ensembl chr 6:46,575,439...46,600,364 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar		 PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUBCN rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 | ClinVar Annotator: match by term: RUBCN-related condition OMIM
ClinVar		 PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr15:91,401,565...91,468,837
Ensembl chr15:91,400,031...91,457,933 		JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28396517 More... NCBI chr 5:601,462...604,342
Ensembl chr 5:602,597...604,182 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr 5:595,236...598,233
Ensembl chr 5:596,074...598,018 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM
ClinVar		 PMID:10330192 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 More... NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr 5:604,412...610,665
Ensembl chr 5:604,545...610,359 		JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CWF19L1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 | ClinVar Annotator: match by term: CWF19L1-related condition OMIM
ClinVar		 PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr 9:93,266,730...93,301,095
Ensembl chr 9:93,266,799...93,295,320 		JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 OMIM
ClinVar		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 More... NCBI chr 7:40,585,532...42,079,977 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 | ClinVar Annotator: match by term: SLC9A1-related condition OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208 		JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: PMPCA-related condition OMIM
ClinVar		 PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... NCBI chr12:1,778,376...1,791,878
Ensembl chr12:1,776,983...1,791,787 		JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar		 PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... NCBI chr13:10,172,960...10,265,852
Ensembl chr13:10,173,023...10,265,766 		JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26581903 PMID:28492532 PMID:29419818 PMID:30531813 More... NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ClinVar PMID:25741868 NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		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 Annotator: match by term: VWA3B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26157035 PMID:28492532 NCBI chr14:1,804,752...2,039,785
Ensembl chr14:1,812,852...1,985,116 		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 Annotator: match by term: TDP2-related condition OMIM
ClinVar		 PMID:24658003 PMID:25741868 PMID:28492532 PMID:30109272 NCBI chr17:47,582,857...47,599,871
Ensembl chr17:47,583,014...47,600,628 		JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr15:57,596,490...57,613,103
Ensembl chr15:57,592,728...57,612,928 		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: ATG5-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 OMIM
ClinVar		 PMID:15981765 PMID:26812546 PMID:28492532 NCBI chr13:67,482,538...67,619,201
Ensembl chr13:67,482,595...67,617,902 		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 Annotator: match by term: XRCC1-related condition OMIM
ClinVar		 PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		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: GDAP2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:30084953 PMID:39825153 NCBI chr20:15,803,252...15,863,679
Ensembl chr20:15,811,722...15,862,245 		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:214071 PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 More... NCBI chr23:60,140,439...60,148,893
Ensembl chr23:60,140,536...60,150,461 		JBrowse link
autosomal recessive spinocerebellar ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 ClinVar PMID:25741868 PMID:27711071 PMID:28492532 PMID:29405484 PMID:36374791 NCBI chr21:51,244,514...51,264,694
Ensembl chr21:51,247,742...51,265,241 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar		 PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr21:19,629,271...19,814,360
Ensembl chr21:19,629,282...19,817,649 		JBrowse link
autosomal recessive spinocerebellar ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr17:29,180,427...29,198,747
Ensembl chr17:29,180,460...29,200,398 		JBrowse link
autosomal recessive spinocerebellar ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: PITRM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar		 PMID:25741868 PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 NCBI chr 9:3,192,692...3,239,667 JBrowse link
autosomal recessive spinocerebellar ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG7 autophagy related 7 ISO ClinVar Annotator: match by term: ATG7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34161705 PMID:35405176 NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070 		JBrowse link
autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDX3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar		 PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475 		JBrowse link
autosomal recessive spinocerebellar ataxia 34 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 AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34 OMIM
ClinVar		 PMID:19461874 PMID:21812104 PMID:21937992 PMID:25741868 PMID:31693170 More... NCBI chr 8:56,111,149...56,203,797
Ensembl chr 8:56,131,599...56,203,336 		JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4 | ClinVar Annotator: match by term: VPS13D-related condition OMIM
ClinVar		 PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: TPP1-related condition OMIM
ClinVar		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 More... NCBI chr 1:58,205,999...58,211,743
Ensembl chr 1:58,206,072...58,210,945 		JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G FBXO5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:80,453,345...80,467,590
Ensembl chr13:80,453,355...80,466,778 		JBrowse link
G MTRF1L mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:80,471,605...80,487,887
Ensembl chr13:80,472,958...80,487,797 		JBrowse link
G MYCT1 MYC target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:80,167,974...80,192,976
Ensembl chr13:80,168,447...80,193,110 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:10080174 PMID:22644603 PMID:25326637 PMID:25741868 PMID:26345448 More... NCBI chr 1:6,650,547...6,656,185
Ensembl chr 1:6,648,520...6,656,172 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088 		JBrowse link
G RGS17 regulator of G protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:80,493,900...80,620,714 JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G VIP vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:7,019,132...7,030,675
Ensembl chr 6:7,019,277...7,030,474 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		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 ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363 		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: ATCAY-related condition | ClinVar Annotator: match by term: Cayman type cerebellar ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr 6:3,643,754...3,678,864
Ensembl chr 6:3,643,793...3,675,263 		JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:25741868 NCBI chr24:82,861,459...82,872,671 JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 6:3,643,754...3,678,864
Ensembl chr 6:3,643,793...3,675,263 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 PMID:38003185 More... NCBI chr 6:9,555,792...9,565,295
Ensembl chr 6:9,555,780...9,568,814 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 PMID:37341581 PMID:38003185 NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:8898206 PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36136249 NCBI chr 1:31,173,846...31,224,118
Ensembl chr 1:31,172,785...31,223,370 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544 		JBrowse link
G CERS1 ceramide synthase 1 treatment ISO RGD PMID:21625621 RGD:156431058 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr12:9,939,984...9,961,913
Ensembl chr12:9,940,696...9,962,235 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
G CSMD1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35351988 NCBI chr 8:2,806,358...4,821,568 JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248 		JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416 		JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:61,013,991...61,019,222
Ensembl chr  X:61,017,716...61,018,567 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36675067 NCBI chr13:25,380,855...25,816,945 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28193273 PMID:32713943 PMID:34906452 PMID:36476347 NCBI chr 5:601,462...604,342
Ensembl chr 5:602,597...604,182 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:4,853,706...4,894,406
Ensembl chr11:4,854,570...4,856,162 		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 chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 PMID:36746441 NCBI chr23:17,595,661...17,735,675
Ensembl chr23:17,598,177...17,735,669 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr16:4,478,315...4,502,261 JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr24:27,314,306...27,383,379
Ensembl chr24:27,314,283...27,383,342 		JBrowse link
G LOC103239687 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:19791729 PMID:22488715 PMID:23829769 More... NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385 		JBrowse link
G LRCH2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:102,693,508...102,817,076
Ensembl chr  X:102,693,458...102,817,001 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 More... NCBI chr19:32,559,208...32,583,522
Ensembl chr19:32,557,536...32,583,060 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:30548255 NCBI chr18:67,666,982...67,792,792
Ensembl chr18:67,667,690...67,788,981 		JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:53,882,070...53,887,867
Ensembl chr 2:53,882,169...53,887,565 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G PDE1B phosphodiesterase 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:50,664,801...50,694,887
Ensembl chr11:50,664,844...50,692,971 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr17:29,180,427...29,198,747
Ensembl chr17:29,180,460...29,200,398 		JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:3,192,692...3,239,667 JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr 5:8,389,483...8,425,605
Ensembl chr 5:8,389,754...8,423,346 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr12:1,778,376...1,791,878
Ensembl chr12:1,776,983...1,791,787 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:46,574,560...46,600,329
Ensembl chr 6:46,575,439...46,600,364 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr16:33,738,444...33,749,016
Ensembl chr16:33,748,336...33,748,909 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 More... NCBI chr23:79,311,135...79,313,414
Ensembl chr23:79,310,704...79,312,994 		JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr27:10,936,445...11,013,457
Ensembl chr27:10,936,461...11,006,679 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 5:39,388,632...39,487,223
Ensembl chr 5:39,387,107...39,487,092 		JBrowse link
G RPL27A ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:56,112,593...56,115,615
Ensembl chr 1:56,112,635...56,115,639 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:84,761,450...84,954,339
Ensembl chr10:84,761,426...84,954,361 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G SEL1L SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 PMID:37341581 PMID:38003185 NCBI chr24:58,812,553...58,877,173
Ensembl chr24:58,809,650...58,877,054 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr27:25,202,150...25,242,782
Ensembl chr27:25,202,506...25,243,330 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:26467025 NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr23:54,005,471...54,101,311
Ensembl chr23:54,005,520...54,047,935 		JBrowse link
G SNX14 sorting nexin 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr13:10,172,960...10,265,852
Ensembl chr13:10,173,023...10,265,766 		JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:14,887,896...14,925,296
Ensembl chr 3:14,886,633...14,924,865 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28193273 PMID:32713943 PMID:34906452 PMID:36476347 NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr17:38,612,777...38,646,382
Ensembl chr17:38,617,679...38,646,192 		JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:47,582,857...47,599,871
Ensembl chr17:47,583,014...47,600,628 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:44,870,004...44,906,686
Ensembl chr12:44,876,643...44,907,072 		JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28192369 NCBI chr 6:16,082,703...16,167,165
Ensembl chr 6:16,084,168...16,154,812 		JBrowse link
G VPS39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr26:40,787,204...40,834,065
Ensembl chr26:40,801,245...40,834,113 		JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26437881 PMID:27848944 NCBI chr16:1,377,135...1,391,404
Ensembl chr16:1,377,669...1,391,404 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:3,002,133...3,173,924
Ensembl chr18:3,002,252...3,126,097 		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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:25326637 PMID:28492532 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 | ClinVar Annotator: match by term: TRPC3-related condition OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chr 7:69,160,569...69,233,322
Ensembl chr 7:69,158,867...69,231,858 		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: CACNA1G-related disorders | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 OMIM
ClinVar		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843 		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 metalloendopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar		 PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr15:35,577,460...35,681,730
Ensembl chr15:35,580,714...35,633,914 		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: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chr20:101,773,819...101,910,433
Ensembl chr20:101,773,960...101,910,519 		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: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24113144 PMID:24719489 PMID:25741868 PMID:28396517 PMID:28492532 More... NCBI chr 5:601,462...604,342
Ensembl chr 5:602,597...604,182 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr 5:595,236...598,233
Ensembl chr 5:596,074...598,018 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar		 PMID:10330192 PMID:24113144 PMID:24719489 PMID:25258038 PMID:25741868 More... NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr 5:604,412...610,665
Ensembl chr 5:604,545...610,359 		JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 6:35,705,683...35,717,354
Ensembl chr 6:35,705,177...35,717,398 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 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: Dysequilibrium syndrome ClinVar PMID:25741868 NCBI chr 3:4,747,744...5,378,598
Ensembl chr 3:4,747,882...5,323,235 		JBrowse link
G CA8 carbonic anhydrase 8 ISO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 8:56,111,149...56,203,797
Ensembl chr 8:56,131,599...56,203,336 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Dysequilibrium syndrome ClinVar PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584 		JBrowse link
cerebellar ataxia, impaired intellectual development, 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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: VLDLR-related condition OMIM
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584 		JBrowse link
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | ClinVar Annotator: match by term: WDR81-related condition OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:26437881 More... NCBI chr16:1,377,135...1,391,404
Ensembl chr16:1,377,669...1,391,404 		JBrowse link
cerebellar ataxia, impaired intellectual development, 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: ATP8A2-related condition | ClinVar Annotator: match by term: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 More... NCBI chr 3:4,747,744...5,378,598
Ensembl chr 3:4,747,882...5,323,235 		JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELF2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 7:86,030,222...86,147,150
Ensembl chr 7:86,029,653...86,147,309 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ClinVar Annotator: match by term: RFC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35883251 PMID:36478048 NCBI chr27:10,936,445...11,013,457
Ensembl chr27:10,936,461...11,006,679 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr24:83,117,823...83,192,435
Ensembl chr24:83,117,685...83,192,431 		JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 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: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168 		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 ISO OMIM:270550 MouseDO NCBI chr16:3,640,550...3,737,390
Ensembl chr16:3,644,499...3,737,346 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay OMIM
ClinVar		 PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:3,117,708...3,216,776
Ensembl chr 3:3,135,446...3,215,553 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		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 | ClinVar Annotator: match by term: DNAJC3-related condition OMIM
ClinVar		 PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 More... NCBI chr 3:74,474,643...74,582,942
Ensembl chr 3:74,474,548...74,579,048 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr20:67,661,187...67,824,822
Ensembl chr20:67,660,680...67,809,086 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr 8:137,647,459...137,650,169
Ensembl chr 8:137,648,746...137,649,804 		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 Annotator: match by term: FRMD4A-related condition OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr 9:13,667,535...14,361,311
Ensembl chr 9:13,675,726...13,916,694 		JBrowse link
G PRPF18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: FRMD4A-related condition ClinVar PMID:28492532 NCBI chr 9:13,606,432...13,650,727
Ensembl chr 9:13,606,433...13,652,849 		JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801 		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 susceptibility ISO ClinVar Annotator: match by term: CACNB4-related condition | ClinVar Annotator: match by term: Episodic ataxia type 5 ClinVar
OMIM		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28166811 More... NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059 		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 term: SLC1A3-related condition OMIM
ClinVar		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 4:35,473,425...35,557,118
Ensembl chr 4:35,473,658...35,557,138 		JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine OMIM
ClinVar		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr15:41,957,826...42,002,776 JBrowse link
G FXN frataxin onset
treatment 		ISO DNA:repeat,deletion:intron,exon:GAA(human)
ClinVar Annotator: match by term: Friedreich ataxia 		RGD
ClinVar		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 More... RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168 		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: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 More... NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168 		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: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome OMIM
ClinVar		 PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 More... NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		JBrowse link
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition OMIM
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr28:15,955,499...16,114,307
Ensembl chr28:15,954,803...16,117,759 		JBrowse link
GRID2-related spinocerebellar ataxia 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: GRID2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:40,585,532...42,079,977 JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr 9:53,411,869...53,462,773
Ensembl chr 9:53,411,889...53,464,668 		JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr11:101,577,134...101,719,214
Ensembl chr11:101,585,900...101,713,126 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622 		JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 treatment
susceptibility 		ISO ClinVar Annotator: match by term: Azorean disease RGD
OMIM
ClinVar		 PMID:20308049 PMID:25741868 RGD:11557997 NCBI chr24:69,810,433...69,855,308 JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:fibroblast
protein:decreased expression:brain 		RGD PMID:21478185 RGD:6483072 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 9:110,039,783...110,078,822
Ensembl chr 9:110,040,391...110,076,647 		JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2A eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr15:40,112,926...40,146,629
Ensembl chr15:40,111,878...40,146,554 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr23:41,611,360...41,855,632
Ensembl chr23:41,609,484...41,855,663 		JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr 9:3,192,692...3,239,667 JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: OHAHA SYNDROME | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17722119 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 More... NCBI chr20:8,109,520...8,112,635 JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome ClinVar NCBI chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder OMIM
ClinVar		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr21:55,865,869...55,883,593
Ensembl chr21:55,878,526...55,883,280 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPRIN1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM
ClinVar		 PMID:25741868 PMID:36136249 NCBI chr 1:31,173,846...31,224,118
Ensembl chr 1:31,172,785...31,223,370 		JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADACL3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,070,230...119,081,279
Ensembl chr20:119,070,235...119,077,215 		JBrowse link
G AADACL4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,129,572...119,153,699 JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities OMIM
ClinVar		 PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr20:123,985,812...124,957,522
Ensembl chr20:123,985,755...124,116,124 		JBrowse link
G CFAP107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,032,143...119,047,632
Ensembl chr20:119,029,021...119,047,323 		JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,183,453...119,236,953
Ensembl chr20:119,184,996...119,237,015 		JBrowse link
G LOC103225579 PRAME family member 12 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,014,526...119,019,561
Ensembl chr20:119,015,953...119,018,681 		JBrowse link
G LOC103230910 histone-lysine N-methyltransferase SMYD3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr25:82,794,748...83,531,942 JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,765,873...119,782,019
Ensembl chr20:119,765,869...119,779,868 		JBrowse link
G NID1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr25:73,130,966...73,227,385
Ensembl chr25:73,130,448...73,227,349 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,824,380...119,865,866 JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 3:57,667,248...57,673,071 JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:128,249,894...128,613,842 JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42BPA CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr25:2,463,764...2,777,699
Ensembl chr25:2,464,952...2,773,353 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,641,359...3,796,697
Ensembl chr 5:3,641,349...3,796,198 		JBrowse link
G AMDHD2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,394,229...2,403,949
Ensembl chr 5:2,394,295...2,405,897 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199 		JBrowse link
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:639,508...642,305 JBrowse link
G ARHGDIG Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:226,760...229,449
Ensembl chr 5:227,202...229,274 		JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,387,891...2,394,111
Ensembl chr 5:2,387,812...2,394,180 		JBrowse link
G AXIN1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:233,520...295,134
Ensembl chr 5:234,060...290,575 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,222,994...1,237,823
Ensembl chr 5:1,227,910...1,236,898 		JBrowse link
G BICDL2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,771,079...2,782,134 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,105,125...2,107,353
Ensembl chr 5:2,105,235...2,106,695 		JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:986,936...991,577
Ensembl chr 5:987,753...989,158 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:447,359...477,253 JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,071,884...2,091,539
Ensembl chr 5:2,073,253...2,091,346 		JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,323,406...1,333,676
Ensembl chr 5:1,322,933...1,333,122 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:642,500...646,337 JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,201,578...4,230,583
Ensembl chr 5:4,199,922...4,230,533 		JBrowse link
G CEMP1 cementum protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,404,443...2,405,733 JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:708,240...718,026
Ensembl chr 5:708,341...717,924 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:649,457...661,085
Ensembl chr 5:650,100...660,518 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,355,558...1,383,755
Ensembl chr 5:1,355,016...1,383,695 		JBrowse link
G CLDN6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,758,086...2,761,996
Ensembl chr 5:2,758,702...2,759,364 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,196,257...3,236,912 JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,523,591...1,589,254
Ensembl chr 5:1,524,015...1,589,344 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,190,148...3,192,091 JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,308,401...1,309,898 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,245,799...4,286,742 JBrowse link
G DECR2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:342,006...357,369
Ensembl chr 5:342,038...357,392 		JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,413,292...4,427,925 JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,109,612...4,139,789 JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,130,879...2,133,817
Ensembl chr 5:2,131,854...2,133,524 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,117,936...2,130,787
Ensembl chr 5:2,117,479...2,130,623 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,135,042...2,147,246
Ensembl chr 5:2,135,129...2,147,109 		JBrowse link
G ELOB elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,564,662...2,570,035 JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,731,150...1,732,086
Ensembl chr 5:1,731,239...1,731,913 		JBrowse link
G FAM234A family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:198,854...211,791
Ensembl chr 5:198,575...211,845 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:612,449...625,530
Ensembl chr 5:610,490...625,493 		JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,654,583...2,689,184
Ensembl chr 5:2,670,081...2,690,582 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,880,025...1,886,829
Ensembl chr 5:1,879,968...1,883,696 		JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,996,333...4,019,499
Ensembl chr 5:3,996,372...4,019,542 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More...
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,240,291...1,251,141
Ensembl chr 5:1,239,693...1,255,165 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,705,436...1,730,896
Ensembl chr 5:1,713,542...1,730,797 		JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:646,321...649,411 JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,765,934...2,767,593
Ensembl chr 5:2,766,170...2,767,248 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,157,402...4,201,223 JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,811,600...1,818,668
Ensembl chr 5:1,811,872...1,818,483 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19561590 More... NCBI chr 5:1,419,432...1,523,342
Ensembl chr 5:1,415,664...1,521,843 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,698,787...1,704,205
Ensembl chr 5:1,698,978...1,701,972 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:601,462...604,342
Ensembl chr 5:602,597...604,182 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,589,553...1,611,592
Ensembl chr 5:1,589,631...1,613,046 		JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,451,537...2,468,686 JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,695,217...2,707,983
Ensembl chr 5:2,697,410...2,707,606 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:761,788...857,798
Ensembl chr 5:762,697...866,926 		JBrowse link
G LOC103225759 somatostatin receptor type 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:967,785...976,353
Ensembl chr 5:973,791...974,885 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,171,487...2,218,851 JBrowse link
G LOC103226924 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,520,825...2,532,693
Ensembl chr 5:2,526,827...2,532,107 		JBrowse link
G LOC103226980 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,632,390...2,644,964
Ensembl chr 5:2,641,727...2,644,739 		JBrowse link
G LOC103227360 olfactory receptor 2C1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,032,514...3,071,413
Ensembl chr 5:3,069,895...3,070,824 		JBrowse link
G LOC103227636 coronin-7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,034,282...4,098,554
Ensembl chr 5:4,020,116...4,098,328 		JBrowse link
G LUC7L LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:132,018...176,060
Ensembl chr 5:128,232...176,020 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,616,672...1,679,350
Ensembl chr 5:1,616,668...1,677,721 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:557,388...568,952
Ensembl chr 5:557,607...569,675 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,971,323...2,991,501 JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,738,250...1,779,412
Ensembl chr 5:1,738,275...1,773,727 		JBrowse link
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:633,951...637,227 JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:554,049...556,223 JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,101,044...2,105,272
Ensembl chr 5:2,101,891...2,105,739 		JBrowse link
G MMP25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,792,249...2,806,357
Ensembl chr 5:2,792,389...2,804,728 		JBrowse link
G MRPL28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:308,141...311,442
Ensembl chr 5:308,442...310,934 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151 		JBrowse link
G MSLN mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,836,059...1,841,132 JBrowse link
G MTRNR2L4 MT-RNR2 like 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,083,439...3,086,054
Ensembl chr 5:3,085,475...3,085,558 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,144,307...3,184,108
Ensembl chr 5:3,173,475...3,181,996 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,856,476...1,859,336
Ensembl chr 5:1,856,157...1,862,529 		JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,923,773...1,935,641
Ensembl chr 5:1,924,131...1,939,062 		JBrowse link
G NHLRC4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:489,600...492,069
Ensembl chr 5:491,126...491,497 		JBrowse link
G NLRC3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,241,552...3,262,763
Ensembl chr 5:3,242,242...3,262,261 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,679,361...1,680,796
Ensembl chr 5:1,679,549...1,680,547 		JBrowse link
G NME4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:337,533...341,052
Ensembl chr 5:337,562...341,205 		JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,142,965...4,164,217
Ensembl chr 5:4,143,051...4,163,391 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,874,801...1,878,557
Ensembl chr 5:1,874,937...1,877,044 		JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,916,677...1,918,468 JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,936,415...1,946,468
Ensembl chr 5:1,936,524...1,946,434 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,349,614...2,353,197
Ensembl chr 5:2,350,797...2,353,184 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,687,972...1,697,559
Ensembl chr 5:1,691,565...1,697,562 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,372,989...4,377,679
Ensembl chr 5:4,375,517...4,377,032 		JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,020,116...4,031,233 JBrowse link
G PAQR4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,708,807...2,713,104
Ensembl chr 5:2,709,245...2,713,256 		JBrowse link
G PDIA2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:229,523...233,298
Ensembl chr 5:229,607...233,200 		JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532
G PGAP6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:311,625...322,355
Ensembl chr 5:311,334...322,243 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,107,850...2,110,657
Ensembl chr 5:2,106,451...2,110,657 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:492,997...505,084
Ensembl chr 5:496,568...505,997 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,712,423...2,722,122
Ensembl chr 5:2,712,448...2,716,661 		JBrowse link
G PRR25 proline rich 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:724,466...734,199 JBrowse link
G PRR35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:482,867...489,486
Ensembl chr 5:486,015...488,112 		JBrowse link
G PRSS27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,471,950...2,480,118 JBrowse link
G PRSS41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,545,222...2,555,071 JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,394,909...1,404,015
Ensembl chr 5:1,395,234...1,398,238 		JBrowse link
G RAB11FIP3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:358,951...445,150 JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,041,871...2,049,623
Ensembl chr 5:2,043,829...2,049,836 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:511,517...545,868
Ensembl chr 5:511,660...544,225 		JBrowse link
G RGS11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:214,626...222,961
Ensembl chr 5:214,964...223,167 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:595,236...598,233
Ensembl chr 5:596,074...598,018 		JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:587,888...593,740
Ensembl chr 5:586,539...595,129 		JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,864,055...1,866,383
Ensembl chr 5:1,864,680...1,866,323 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,148,929...2,163,810 JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,466,954...4,472,967
Ensembl chr 5:4,466,824...4,472,780 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,841,959...1,853,944
Ensembl chr 5:1,842,604...1,853,444 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,859,411...1,862,322
Ensembl chr 5:1,859,454...1,862,305 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:704,649...708,025
Ensembl chr 5:704,519...708,058 		JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,448,098...4,465,389 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,281,468...3,308,296 JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,465,215...4,466,550
Ensembl chr 5:4,465,603...4,466,738 		JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:877,988...883,278
Ensembl chr 5:878,217...881,662 		JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,685,741...1,691,542
Ensembl chr 5:1,686,095...1,691,489 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,861,921...3,928,865 JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,570,566...2,589,355
Ensembl chr 5:2,571,109...2,585,640 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,886,899...1,891,293
Ensembl chr 5:1,886,864...1,891,368 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,867,943...1,874,640
Ensembl chr 5:1,867,917...1,875,236 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,338,246...2,343,171
Ensembl chr 5:2,338,341...2,342,825 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,403,373...1,419,459
Ensembl chr 5:1,403,385...1,421,128 		JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,931,288...3,960,039
Ensembl chr 5:3,932,149...3,954,486 		JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,767,338...2,771,040
Ensembl chr 5:2,767,634...2,771,812 		JBrowse link
G TIGD7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,022,294...3,029,167 JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,443,132...1,469,973
Ensembl chr 5:1,446,321...1,472,785 		JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,763,633...2,765,692
Ensembl chr 5:2,763,714...2,765,137 		JBrowse link
G TPSG1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,105,802...1,109,613 JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,339,954...3,405,218
Ensembl chr 5:3,340,040...3,405,166 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,237,625...1,240,287
Ensembl chr 5:1,237,821...1,240,191 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,295,504...4,301,647
Ensembl chr 5:4,292,771...4,301,515 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,203,513...1,216,662
Ensembl chr 5:1,200,018...1,216,741 		JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:1,279,429...1,303,996
Ensembl chr 5:1,253,941...1,303,950 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,052,239...4,063,884 JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:604,412...610,665
Ensembl chr 5:604,545...610,359 		JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:569,743...587,632
Ensembl chr 5:569,575...587,632 		JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr 5:547,499...554,080
Ensembl chr 5:547,795...554,019 		JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,106,901...3,114,690
Ensembl chr 5:3,106,981...3,116,524 		JBrowse link
G ZNF200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,950,385...2,963,806
Ensembl chr 5:2,950,114...2,963,494 		JBrowse link
G ZNF205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,827,888...2,844,569
Ensembl chr 5:2,837,617...2,844,383 		JBrowse link
G ZNF213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,865,131...2,878,473
Ensembl chr 5:2,873,071...2,877,144 		JBrowse link
G ZNF263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,005,686...3,015,341
Ensembl chr 5:3,007,305...3,014,449 		JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:4,432,050...4,443,777
Ensembl chr 5:4,432,575...4,443,396 		JBrowse link
G ZNF597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,137,252...3,144,217
Ensembl chr 5:3,133,193...3,144,023 		JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:1,894,662...1,906,613
Ensembl chr 5:1,895,250...1,906,539 		JBrowse link
G ZNF75A zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,029,147...3,042,225 JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:2,813,067...2,836,732
Ensembl chr 5:2,813,268...2,817,107 		JBrowse link
G ZSCAN32 zinc finger and SCAN domain containing 32 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 5:3,089,284...3,106,773
Ensembl chr 5:3,086,772...3,106,771 		JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia 		RGD
ClinVar		 PMID:22022284 PMID:25741868 RGD:11532672 NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:105,187,943...105,257,767
Ensembl chr20:105,239,747...105,244,558 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:33,221,777...33,244,829
Ensembl chr 4:33,225,754...33,244,836 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr20:23,914,652...23,926,848
Ensembl chr20:23,913,254...23,926,904 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059 		JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr24:69,035,317...69,185,353
Ensembl chr24:69,034,992...69,184,800 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr26:15,259,186...15,278,249 JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chr12:9,796,284...9,808,156 JBrowse link
G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:24,769,788...24,784,248
Ensembl chr 6:24,770,567...24,783,703 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:60,496,607...60,691,457
Ensembl chr 8:60,496,733...60,524,238 		JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr20:74,727,084...75,968,434
Ensembl chr20:75,541,508...75,968,427 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:4,652,674...4,687,308
Ensembl chr13:4,652,677...4,687,294 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541 		JBrowse link
G EXOSC8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:15,520,122...15,529,101
Ensembl chr 3:15,519,804...15,529,014 		JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 5:52,930,289...52,993,751
Ensembl chr 5:52,930,833...52,992,499 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chr24:65,556,763...65,621,693
Ensembl chr24:65,558,074...65,621,258 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr25:1,568,664...1,579,279
Ensembl chr25:1,569,427...1,570,752 		JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr15:77,480,895...77,592,130
Ensembl chr15:77,480,598...77,592,120 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr20:87,463,202...87,465,467
Ensembl chr20:87,463,636...87,464,748 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196 NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:126,784,843...126,890,649
Ensembl chr10:126,781,589...126,867,219 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr16:4,478,315...4,502,261 JBrowse link
G LYST lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr25:72,827,997...73,048,645
Ensembl chr25:72,828,006...72,991,970 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 9:29,918,227...29,966,806
Ensembl chr 9:29,919,008...29,951,006 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr16:63,735,411...63,744,365 JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr16:8,235,891...8,322,347
Ensembl chr16:8,234,962...8,322,320 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr19:20,818,575...20,884,243 JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr 9:53,411,869...53,462,773
Ensembl chr 9:53,411,889...53,464,668 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr20:92,809,373...92,833,048
Ensembl chr20:92,809,552...92,833,244 		JBrowse link
G PUM1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr20:101,773,819...101,910,433
Ensembl chr20:101,773,960...101,910,519 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr27:25,202,150...25,242,782
Ensembl chr27:25,202,506...25,243,330 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:35,473,425...35,557,118
Ensembl chr 4:35,473,658...35,557,138 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr23:14,113,276...14,139,758
Ensembl chr23:14,113,375...14,136,424 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr14:75,343,437...75,429,196
Ensembl chr14:75,343,327...75,429,139 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196 NCBI chr26:38,386,000...38,482,236 JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr24:41,054,609...41,443,067
Ensembl chr24:41,054,621...41,443,436 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr26:40,048,802...40,228,083
Ensembl chr26:40,048,943...40,231,228 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr11:6,500,157...6,510,777
Ensembl chr11:6,499,614...6,515,027 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr11:6,510,717...6,520,429 JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 More... NCBI chr12:9,796,284...9,808,156 JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608 NCBI chr12:9,808,183...9,821,024 JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,448,126...4,468,616
Ensembl chr16:4,447,849...4,467,159 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,370,550...4,385,330
Ensembl chr16:4,371,236...4,375,567 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,372,060...4,373,156
Ensembl chr16:4,372,262...4,373,024 		JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,431,321...4,439,742
Ensembl chr16:4,431,436...4,439,786 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,412,693...4,415,841 JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,469,067...4,476,337
Ensembl chr16:4,468,469...4,472,886 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr16:4,478,315...4,502,261 JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,426,853...4,430,259
Ensembl chr16:4,426,962...4,429,713 		JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,421,744...4,426,433
Ensembl chr16:4,421,744...4,428,576 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,418,555...4,421,745
Ensembl chr16:4,416,259...4,421,162 		JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr16:4,441,819...4,448,021
Ensembl chr16:4,442,126...4,447,933 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr10:83,186,370...83,193,464
Ensembl chr10:83,187,344...83,189,125 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTPAP mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr 9:29,918,227...29,966,806
Ensembl chr 9:29,919,008...29,951,006 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 More... NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:70,870,576...70,888,560
Ensembl chr18:70,870,566...70,888,099 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr 9:125,374,441...125,377,565
Ensembl chr 9:125,376,268...125,377,482 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHP1 calcineurin like EF-hand protein 1 ISO OMIM NCBI chr26:41,734,698...41,785,273
Ensembl chr26:41,733,063...41,785,586 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO OMIM NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM
ClinVar		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843 		JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 44 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343 PMID:35401678 NCBI chr13:25,380,855...25,816,945 JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar		 PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:11865300 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 More... NCBI chr25:78,576,931...78,599,998
Ensembl chr25:78,575,300...78,599,972 		JBrowse link
G LOC103233229 cadherin-1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr23:54,005,471...54,101,311
Ensembl chr23:54,005,520...54,047,935 		JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: PLD3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 46 OMIM
ClinVar		 PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 More... NCBI chr 6:34,804,574...34,833,975
Ensembl chr 6:34,804,500...34,836,333 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 6:34,851,977...34,870,413
Ensembl chr 6:34,851,979...34,864,967 		JBrowse link
Spinocerebellar Ataxia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 49 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29146900 PMID:30322869 PMID:35310830 More... NCBI chr21:55,865,869...55,883,593
Ensembl chr21:55,878,526...55,883,280 		JBrowse link
Spinocerebellar Ataxia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPTX1 neuronal pentraxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 50 OMIM
ClinVar		 PMID:25741868 PMID:34788392 PMID:35285082 PMID:35288776 PMID:35560436 NCBI chr16:72,438,728...72,449,205
Ensembl chr16:72,439,482...72,449,139 		JBrowse link
Spinocerebellar Ataxia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THAP11 THAP domain containing 11 ISO OMIM NCBI chr 5:59,595,411...59,598,401
Ensembl chr 5:59,596,106...59,597,047 		JBrowse link
Spinocerebellar Ataxia and Plaque-Like Deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRNP prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits ClinVar PMID:1351274 PMID:1353341 PMID:1363810 PMID:1404799 PMID:1469441 More... NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366 		JBrowse link
spinocerebellar ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: ATXN1-related condition | ClinVar Annotator: match by term: SCHUT-HAYMAKER TYPE OPCA | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 OMIM
ClinVar		 PMID:25741868 PMID:37091313 NCBI chr17:55,810,621...55,832,565
Ensembl chr17:55,810,279...55,832,472 		JBrowse link
spinocerebellar ataxia type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 OMIM
ClinVar		 PMID:25741868 NCBI chr19:28,128,644...28,307,061
Ensembl chr19:28,128,688...28,308,617 		JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition OMIM
ClinVar		 PMID:18037885 PMID:19533200 PMID:20301723 PMID:20667868 PMID:22073189 More... NCBI chr26:40,048,802...40,228,083
Ensembl chr26:40,048,943...40,231,228 		JBrowse link
spinocerebellar ataxia type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO ClinVar Annotator: match by term: PPP2R2B-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 OMIM
ClinVar		 PMID:25741868 NCBI chr23:49,164,026...49,645,347 JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNC3 potassium voltage-gated channel subfamily C member 3 ISO ClinVar Annotator: match by term: KCNC3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 OMIM
ClinVar		 PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 More... NCBI chr 6:43,374,151...43,391,418 JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: PRKCG-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 OMIM
ClinVar		 PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 More... NCBI chr 6:46,574,560...46,600,329
Ensembl chr 6:46,575,439...46,600,364 		JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 OMIM
ClinVar		 PMID:10664581 PMID:12824425 PMID:14981189 PMID:15623688 PMID:17932120 More... NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G RUBCN rubicon autophagy regulator ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:25741868 NCBI chr15:91,401,565...91,468,837
Ensembl chr15:91,400,031...91,457,933 		JBrowse link
G SETMAR SET domain and mariner transposase fusion gene ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chr22:40,389,390...40,403,917
Ensembl chr22:40,389,485...40,403,898 		JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 1:110,418,497...110,431,636
Ensembl chr 1:110,417,942...110,431,590 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr16:73,718,743...73,733,488
Ensembl chr16:73,718,656...73,733,892 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966 		JBrowse link
G TBP TATA-box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497 		JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 OMIM
ClinVar		 PMID:9536098 PMID:11284128 PMID:11310586 PMID:15563876 PMID:17576681 More... NCBI chr20:21,618,365...21,833,443
Ensembl chr20:21,625,147...21,833,186 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:61,596,940...61,748,359
Ensembl chr13:61,596,905...61,748,022 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chr11:106,704,532...106,860,450
Ensembl chr11:106,705,127...106,859,337 		JBrowse link
spinocerebellar ataxia type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 | ClinVar Annotator: match by term: TMEM240-related condition OMIM
ClinVar		 PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30184469 More... NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDYN prodynorphin ISO ClinVar Annotator: match by term: PDYN-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 OMIM
ClinVar		 PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 More... NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104 		JBrowse link
spinocerebellar ataxia type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 OMIM
ClinVar		 PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 More... NCBI chr14:51,211,385...51,267,706
Ensembl chr14:51,211,118...51,267,098 		JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 OMIM
ClinVar		 PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: FGF14-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr 3:80,045,404...80,303,978
Ensembl chr 3:80,045,577...80,302,006 		JBrowse link
spinocerebellar ataxia type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 OMIM
ClinVar		 PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 More... NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:70,870,576...70,888,560
Ensembl chr18:70,870,566...70,888,099 		JBrowse link
spinocerebellar ataxia type 29 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: Spinocerebellar ataxia type 29 OMIM
ClinVar		 PMID:10664581 PMID:12824425 PMID:15623688 PMID:22986007 PMID:23315928 More... NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEAN1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: BEAN1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 OMIM
ClinVar		 PMID:19878914 NCBI chr 5:52,121,684...52,182,820 JBrowse link
G PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chr 5:60,157,217...60,177,105
Ensembl chr 5:60,163,553...60,174,765 		JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chr13:4,652,674...4,687,308
Ensembl chr13:4,652,677...4,687,294 		JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 | ClinVar Annotator: match by term: TGM6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22162184 More... NCBI chr 2:54,100,262...54,152,019
Ensembl chr 2:54,101,063...54,139,923 		JBrowse link
spinocerebellar ataxia type 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:53,882,070...53,887,867
Ensembl chr 2:53,882,169...53,887,565 		JBrowse link
spinocerebellar ataxia type 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: DAB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 OMIM
ClinVar		 PMID:23700170 PMID:25741868 PMID:28492532 PMID:28686858 PMID:29939198 NCBI chr20:74,727,084...75,968,434
Ensembl chr20:75,541,508...75,968,427 		JBrowse link
spinocerebellar ataxia type 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: ELOVL5-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 OMIM
ClinVar		 PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 NCBI chr17:19,227,209...19,305,789
Ensembl chr17:19,277,593...19,307,625 		JBrowse link
spinocerebellar ataxia type 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 type 4 ClinVar PMID:25741868 PMID:35151251 NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		JBrowse link
G ZFHX3 zinc finger homeobox 3 susceptibility ISO OMIM NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112 		JBrowse link
spinocerebellar ataxia type 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 OMIM
ClinVar		 PMID:18414213 PMID:23042809 PMID:25062847 PMID:25741868 PMID:26467025 More... NCBI chr24:69,035,317...69,185,353
Ensembl chr24:69,034,992...69,184,800 		JBrowse link
spinocerebellar ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 OMIM
ClinVar		 PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 More... NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
spinocerebellar ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 OMIM
ClinVar		 PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
spinocerebellar ataxia type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN7 ataxin 7 ISO ClinVar Annotator: match by term: ATXN7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 7 OMIM
ClinVar		 PMID:25741868 NCBI chr22:24,897,045...25,046,188
Ensembl chr22:24,945,248...25,033,687 		JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 7 ClinVar NCBI chr  X:91,481,699...91,483,764 JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | ClinVar Annotator: match by term: TDP1-related condition OMIM
ClinVar		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:16141202 More... NCBI chr24:67,672,178...67,762,340 JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: SETX-related disorder | 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: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 		OMIM
ClinVar		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr11:105,020,972...105,072,660 JBrowse link
spinocerebellar ataxia with axonal neuropathy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: COA7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar		 PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 NCBI chr20:80,244,277...80,256,969
Ensembl chr20:80,244,267...80,259,348 		JBrowse link
Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility ISO ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human) 		OMIM
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600 NCBI chr  X:64,633,989...64,748,638
Ensembl chr  X:64,634,079...64,701,938 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:51,086,062...51,108,564
Ensembl chr  X:51,086,066...51,103,505 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:64,633,989...64,748,638
Ensembl chr  X:64,634,079...64,701,938 		JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:54,568,751...54,591,284
Ensembl chr  X:54,573,476...54,576,880 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 More... NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,843,519...66,985,655
Ensembl chr  X:66,843,558...66,985,709 		JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,833,239...61,955,216
Ensembl chr  X:61,940,218...61,949,217 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:62,397,726...62,528,695
Ensembl chr  X:62,397,739...62,528,708 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:98,255,023...98,296,832
Ensembl chr  X:98,290,677...98,296,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      nervous system disease 13233
        neurodegenerative disease 4842
          primary cerebellar degeneration 583
            Spinocerebellar Ataxias 551
              Boucher-Neuhauser syndrome 2
              Gemignani Syndrome 0
              Spinocerebellar Ataxia and Plaque-Like Deposits 1
              Spinocerebellar Ataxia with Dysmorphism 0
              Spinocerebellar Ataxia with Epilepsy 1
              Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
              X-linked sideroblastic anemia with ataxia 2
              X-linked spinocerebellar ataxia 1 7
              X-linked spinocerebellar ataxia 2 0
              X-linked spinocerebellar ataxia 3 0
              X-linked spinocerebellar ataxia 4 0
              X-linked spinocerebellar ataxia 5 0
              cerebellar ataxia + 476
              mitochondrial DNA depletion syndrome 16B 2
              spastic ataxia + 83
Path 2
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      nervous system disease 13233
        central nervous system disease 11828
          brain disease 11099
            movement disease 2515
              Dyskinesias 2139
                Ataxia 925
                  Spinocerebellar Ataxias 551
                    Boucher-Neuhauser syndrome 2
                    Gemignani Syndrome 0
                    Spinocerebellar Ataxia and Plaque-Like Deposits 1
                    Spinocerebellar Ataxia with Dysmorphism 0
                    Spinocerebellar Ataxia with Epilepsy 1
                    Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                    X-linked sideroblastic anemia with ataxia 2
                    X-linked spinocerebellar ataxia 1 7
                    X-linked spinocerebellar ataxia 2 0
                    X-linked spinocerebellar ataxia 3 0
                    X-linked spinocerebellar ataxia 4 0
                    X-linked spinocerebellar ataxia 5 0
                    cerebellar ataxia + 476
                    mitochondrial DNA depletion syndrome 16B 2
                    spastic ataxia + 83
paths to the root