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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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primary cerebellar degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 More... NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:25741868 NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO OMIM NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:20504773 More... NCBI chr 9:63,087,798...63,174,977 JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362
JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 3:177,948,040...178,012,705 JBrowse link
G LOC100974096 mitochondrial import inner membrane translocase subunit TIM14 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
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 chr11:100,969,185...100,990,296
Ensembl chr11:104,452,913...104,474,063
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 chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
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 chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179
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 chr11:102,390,687...102,456,357
Ensembl chr11:105,872,588...105,937,472
JBrowse link
G AMOTL1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,743,625...89,890,334
Ensembl chr11:93,278,464...93,413,197
JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,841,228...96,866,390
Ensembl chr11:100,340,375...100,356,947
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 chr11:89,500,796...89,506,436
Ensembl chr11:92,986,224...92,991,713
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 chr11:105,457,931...105,593,644
Ensembl chr11:109,289,419...109,437,294
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 chr11:95,655,874...95,962,003
Ensembl chr11:99,159,634...99,460,060
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: Louis-Bar syndrome OMIM
ClinVar
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
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 chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022
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 chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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 chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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 chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589
JBrowse link
G C11H11orf1 chromosome 11 C11orf1 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652
JBrowse link
G C11H11orf52 chromosome 11 C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G C11H11orf87 chromosome 11 C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,308,303...104,315,320
Ensembl chr11:107,776,999...107,777,592
JBrowse link
G CARD16 caspase recruitment domain family member 16 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,981,854...99,985,839 JBrowse link
G CASP1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CASP5 caspase 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,931,066...99,963,652 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 chr11:91,359,827...91,397,027
Ensembl chr11:94,884,856...94,921,339
JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,864,691...96,950,338
Ensembl chr11:100,363,259...100,447,121
JBrowse link
G CEP57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,795,277...90,838,166 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 chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638
JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,012,914...95,340,930
Ensembl chr11:98,062,341...98,848,900
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,895,611...102,994,447
Ensembl chr11:106,371,759...106,469,989
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 chr11:89,977,104...89,987,495
Ensembl chr11:93,499,406...93,509,827
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 chr11:102,219,339...102,345,865
Ensembl chr11:105,702,934...105,828,149
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 chr11:97,996,643...98,038,108
Ensembl chr11:101,493,113...101,522,920
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 chr11:98,981,511...98,983,500
Ensembl chr11:102,466,220...102,467,398
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 chr11:103,549,629...103,826,262
Ensembl chr11:107,018,798...107,293,248
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 chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795
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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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 chr11:102,481,649...102,557,478
Ensembl chr11:105,989,544...106,034,696
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 chr11:90,103,089...90,146,740
Ensembl chr11:93,626,201...93,669,384
JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,390,256...103,478,587
Ensembl chr11:106,863,716...106,947,586
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 chr11:90,774,244...90,795,042
Ensembl chr11:94,301,937...94,322,788
JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,311,613...105,345,414 JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074
JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,550,637...89,566,111
Ensembl chr11:93,036,119...93,037,711
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 chr11:100,498,632...100,873,764
Ensembl chr11:103,983,862...104,355,280
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 chr11:101,565,279...101,910,136 JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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 chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946
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 chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G JRKL JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:91,397,097...91,401,426
Ensembl chr11:94,922,218...94,923,792
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 chr11:100,938,438...100,969,353
Ensembl chr11:104,426,554...104,453,162
JBrowse link
G KDM4D lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,987,537...90,013,421 JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935
JBrowse link
G LOC100979908 lysine-specific demethylase 4E ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,039,540...90,041,341
Ensembl chr11:93,561,957...93,563,477
JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034
JBrowse link
G LOC100985633 caspase-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,031,979...100,041,771
Ensembl chr11:103,522,260...103,524,354
JBrowse link
G LOC100991353 caspase-4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,883,353...99,909,185
Ensembl chr11:103,366,138...103,391,824
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 chr11:90,982,013...91,350,289
Ensembl chr11:94,511,873...94,873,977
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322
JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,630,268...97,644,959
Ensembl chr11:101,123,253...101,137,315
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
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 chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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 chr11:100,899,541...100,913,926
Ensembl chr11:104,383,412...104,397,702
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 chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138
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 chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338
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 chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273
JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,997,677...96,098,866 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 chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506
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 chr11:89,572,252...89,628,251
Ensembl chr11:93,097,709...93,150,981
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 chr11:103,356,813...103,383,515
Ensembl chr11:106,827,056...106,853,166
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 chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996
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 chr11:106,125,675...106,165,907
Ensembl chr11:109,971,255...110,011,080
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 chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060
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 chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908
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 chr11:102,814,825...102,851,700
Ensembl chr11:106,291,348...106,326,587
JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
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 chr11:106,973,256...106,982,237
Ensembl chr11:110,817,016...110,896,829
JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,184,571...90,249,825
Ensembl chr11:93,714,916...93,773,679
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 chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543
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 chr11:102,681,791...102,750,821
Ensembl chr11:106,159,625...106,227,656
JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,598,123...102,602,917 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 chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980
JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,342,669...97,399,342
Ensembl chr11:100,835,988...100,892,618
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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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 chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301
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 chr11:104,975,798...105,054,382
Ensembl chr11:108,859,581...108,899,858
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:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:25741868 PMID:28492532 PMID:30460542 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
Ataxia-oculomotor apraxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA: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 chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
Ataxia-oculomotor apraxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:20696759 PMID:25326637 PMID:25741868 PMID:26604000 PMID:27145208 More... NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM
ClinVar
PMID:9536098 PMID:14770181 PMID:15732101 PMID:17159128 PMID:17576681 More... NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
ataxia-oculomotor apraxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr17:42,686,483...42,773,668
Ensembl chr17:47,475,201...47,507,282
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330
JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr13:82,609,493...82,877,474
Ensembl chr13:101,747,760...102,014,605
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 More... NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G KIF26B kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr 1:220,756,171...221,321,969
Ensembl chr 1:226,343,821...226,681,669
JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr18:5,454,320...5,580,020
Ensembl chr18:7,737,903...7,906,958
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:21,699,674...21,877,481
Ensembl chr15:39,861,102...40,034,982
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213 PMID:22036850 PMID:24164873 PMID:25741868 PMID:26467025 More... NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
JBrowse link
G PRDX3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
JBrowse link
G SEPTIN11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr 4:47,165,381...47,255,954
Ensembl chr 4:53,006,294...53,095,844
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 chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 More... NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYT14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar
PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr 1:185,508,466...185,735,732
Ensembl chr 1:190,386,089...190,596,464
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 Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More... NCBI chr16:60,188,494...60,194,871 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:17470496 PMID:17576681 PMID:20480411 More... NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 OMIM
ClinVar
PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:31319223 NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 OMIM
ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUBCN rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr 3:195,088,936...195,166,771
Ensembl chr 3:204,973,968...205,034,011
JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:31571321 Ensembl chr16:696,710...698,767 JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM
ClinVar
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... Ensembl chr16:694,414...696,682 JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CWF19L1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr10:96,838,064...96,873,478
Ensembl chr10:100,319,979...100,354,599
JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 OMIM
ClinVar
PMID:23611888 PMID:24078737 PMID:25741868 NCBI chr 4:84,663,030...86,170,778
Ensembl chr 4:95,339,460...96,807,748
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome OMIM
ClinVar
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 OMIM
ClinVar
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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 OMIM
ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 NCBI chr 6:83,389,608...83,477,859
Ensembl chr 6:86,671,608...86,759,118
JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome OMIM
ClinVar
PMID:25741868 PMID:29419818 PMID:32860008 NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413
JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA3B von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 OMIM
ClinVar
PMID:25741868 PMID:26157035 NCBI chr2A:100,995,476...101,221,328 JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency OMIM
ClinVar
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr 6:24,487,551...24,505,268
Ensembl chr 6:24,819,494...24,837,189
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 OMIM
ClinVar
PMID:15981765 PMID:26812546 NCBI chr 6:103,997,824...104,140,931
Ensembl chr 6:107,871,208...108,013,807
JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP2 ganglioside induced differentiation associated protein 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar
PMID:25741868 PMID:30084953 NCBI chr 1:84,595,645...84,661,754
Ensembl chr 1:119,599,978...119,642,141
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THG1L tRNA-histidine guanylyltransferase 1 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 NCBI chr 5:153,116,528...153,127,166
Ensembl chr 5:159,737,327...159,749,242
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar
PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr 7:39,355,578...39,543,281
Ensembl chr 7:39,590,587...39,776,937
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar
PMID:26697887 PMID:29383861 PMID:29764912 NCBI chr10:3,135,895...3,171,235
Ensembl chr10:3,148,758...3,184,120
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG7 autophagy related 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar
PMID:34161705 NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDX3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar
PMID:33889951 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome OMIM
ClinVar
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 More... NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:11339651 More... NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G FBXO5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 6:150,793,020...150,806,008
Ensembl chr 6:155,481,753...155,494,231
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G MTRF1L mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 6:150,810,353...150,825,162
Ensembl chr 6:155,498,473...155,513,910
JBrowse link
G MYCT1 MYC target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 6:150,515,673...150,538,481
Ensembl chr 6:155,205,805...155,228,622
JBrowse link
G RGS17 regulator of G protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 6:150,826,838...150,953,386
Ensembl chr 6:155,521,826...155,555,151
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:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 More... NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G VIP vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100990610 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar
PMID:25741868 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 1:51,946,060...51,960,364
Ensembl chr 1:53,554,945...53,566,489
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
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:19652145 PMID:21911500 More... NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Cayman type cerebellar ataxia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr19:2,905,615...2,953,079
Ensembl chr19:3,854,423...3,900,175
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr14:85,587,016...85,627,319 JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr19:2,905,615...2,953,079
Ensembl chr19:3,854,423...3,900,175
JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 NCBI chr19:10,095,768...10,105,250
Ensembl chr19:10,758,544...10,767,712
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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:25741868 PMID:28492532 PMID:29909963 NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28492532 More... NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
JBrowse link
G CSMD1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532 PMID:35351988 NCBI chr 8:2,282,763...4,351,724
Ensembl chr 8:2,838,803...4,923,373
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 chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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 chr 1:135,391,321...135,424,100 JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
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:104,201,087...104,324,505
Ensembl chr  X:114,717,260...114,828,080
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:23851226 PMID:25741868 NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
JBrowse link
G NCDN neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 1:34,825,694...34,834,729
Ensembl chr 1:36,002,890...36,011,889
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
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 chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
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 chr17:53,763,222...53,773,191
Ensembl chr17:58,605,850...58,615,809
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 chr 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864
JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548
JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RPL27A ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr11:8,807,139...8,810,192 JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
G SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 NCBI chr14:62,050,695...62,111,489
Ensembl chr14:81,248,441...81,309,597
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 4:19,517,552...19,558,454
Ensembl chr 4:24,802,260...24,842,816
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SNX14 sorting nexin 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:83,389,608...83,477,859
Ensembl chr 6:86,671,608...86,759,118
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr13:17,514,720...17,582,011
Ensembl chr13:35,945,938...35,989,774
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:24033266 PMID:25533962 PMID:25741868 PMID:26865513 PMID:26918652 More... NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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 chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:32,999,408...33,033,067
Ensembl chr 6:34,110,652...34,144,490
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:24,487,551...24,505,268
Ensembl chr 6:24,819,494...24,837,189
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:25741868 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar
PMID:25477146 PMID:25741868 NCBI chr 4:114,079,395...114,153,014
Ensembl chr 4:125,217,086...125,289,014
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 OMIM
ClinVar
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
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 chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUM1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar
PMID:25741868 PMID:29474920 NCBI chr 1:30,205,584...30,341,979
Ensembl chr 1:31,230,268...31,364,348
JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... Ensembl chr16:696,710...698,767 JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar
PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... Ensembl chr16:694,414...696,682 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 chr19:38,379,884...38,391,309
Ensembl chr19:46,886,326...46,897,703
JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8A2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Dysequilibrium syndrome ClinVar PMID:25741868 NCBI chr13:6,663,888...7,319,094
Ensembl chr13:25,111,653...25,662,668
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: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome ClinVar PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM
ClinVar
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM
ClinVar
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 OMIM
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 8:56,606,454...56,702,357
Ensembl chr 8:58,273,696...58,367,615
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8A2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar
PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 NCBI chr13:6,663,888...7,319,094
Ensembl chr13:25,111,653...25,662,668
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 4:131,420,985...131,540,691
Ensembl chr 4:142,731,593...142,850,778
JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM
ClinVar
PMID:25741868 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 More... NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
JBrowse link
G LOC100972845 cytochrome b561 domain-containing protein 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 3:50,276,985...50,280,196
Ensembl chr 3:51,512,141...51,515,481
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder OMIM
ClinVar
PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 PMID:30577886 More... NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
JBrowse link
Charlevoix-Saguenay spastic ataxia 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: Charlevoix-Saguenay spastic ataxia OMIM
ClinVar
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 PMID:25741868 NCBI chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879
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: BIRK-FLUSSER SYNDROME | ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM
ClinVar
PMID:25388005 PMID:25741868 NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
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 chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 5 OMIM
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328
JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 OMIM
ClinVar
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 5:73,679,841...73,761,591
Ensembl chr 5:78,960,797...79,042,694
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:9488686 PMID:9566402 More... NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia ClinVar PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 More... NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:34906502 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
G WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
JBrowse link
G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H1orf122 chromosome 1 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,082,486...37,084,170 JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 1:37,077,653...37,082,929 JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar
PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746
JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar
PMID:31481669 NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Gillespie syndrome OMIM
ClinVar
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 More... NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome OMIM
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 NCBI chr 7:5,872,118...6,037,073
Ensembl chr 7:5,891,909...6,051,979
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism OMIM
ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr13:29,383,318...29,412,018 JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 susceptibility
treatment
ISO ClinVar Annotator: match by term: Azorean disease OMIM
ClinVar
RGD
PMID:7874163 PMID:20308049 RGD:11557997 RGD:1599419 NCBI chr14:72,693,446...72,741,772 JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:brain RGD PMID:21478185 RGD:6483072 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703
JBrowse link
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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 chr10:3,135,895...3,171,235
Ensembl chr10:3,148,758...3,184,120
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar
PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome OMIM
ClinVar
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 7:85,086,661...85,104,983 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GEMIN5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION OMIM
ClinVar
PMID:33963192 NCBI chr 5:150,290,809...150,342,124
Ensembl chr 5:156,285,679...156,335,750
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures ClinVar PMID:25741868 PMID:30420557 NCBI chr 9:39,161,182...39,357,043
Ensembl chr 9:84,871,450...85,037,897
JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM
ClinVar
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 More... NCBI chr 7:2,797,551...2,815,847
Ensembl chr 7:2,892,302...2,910,143
JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA1 calmodulin binding transcription activator 1 ISO OMIM NCBI chr 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
JBrowse link
G C4H4orf47 chromosome 4 C4orf47 homolog ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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: Spinocerebellar ataxia, autosomal recessive 9 ClinVar PMID:24164873 NCBI chr 1:202,448,571...202,780,486
Ensembl chr 1:207,438,330...207,766,907
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar
PMID:9536098 PMID:12682339 PMID:15326254 PMID:17576681 PMID:18319072 More... NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413
JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 NCBI chr16:152,459...178,785
Ensembl chr16:1,588,454...1,609,649
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 chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:26,794,800...26,864,669 JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
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 chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G C19H19orf12 chromosome 19 C19orf12 homolog ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408
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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:33704555 NCBI chr 9:99,444,414...99,457,281
Ensembl chr 9:128,111,957...128,124,918
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 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:56,279,089...57,529,881
Ensembl chr 1:58,005,136...58,286,708
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:77,798,058...77,830,840
Ensembl chr 6:81,068,882...81,102,050
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G EXOSC8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:18,208,074...18,217,426
Ensembl chr13:36,638,406...36,647,273
JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:55,278,769...55,340,332
Ensembl chr16:74,632,179...74,693,710
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784
JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:32576985 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:203,551,556...203,561,702 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 chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like