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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 chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:25741868 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 More... NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP OMIM NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:1899786 PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:20504773 More... NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
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 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V ClinVar PMID:28492532 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5
ClinVar
OMIM
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V ClinVar PMID:28492532 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753
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 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,077,662...106,098,695
Ensembl chr11:106,075,501...106,098,699
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742
JBrowse link
G AMOTL1 angiomotin like 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,706,460...94,876,748
Ensembl chr11:94,706,431...94,876,748
JBrowse link
G ANGPTL5 angiopoietin like 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,890,674...101,916,522
Ensembl chr11:101,890,674...101,916,522
JBrowse link
G ANKRD49 ankyrin repeat domain 49 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,493,984...94,499,578
Ensembl chr11:94,493,979...94,499,578
JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:110,577,043...110,713,189
Ensembl chr11:110,577,042...110,713,189
JBrowse link
G ARHGAP42 Rho GTPase activating protein 42 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,687,288...100,993,941
Ensembl chr11:100,687,288...100,993,941
JBrowse link
G ATM ATM serine/threonine kinase ISO
IAGP
EXP
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
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
ClinVar
CTD
OMIM
RGD
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... RGD:10053611, RGD:12879399 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BAK1 BCL2 antagonist/killer 1 IAGP DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility IAGP DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIK BCL2 interacting killer susceptibility IAGP DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:43,110,750...43,129,712
Ensembl chr22:43,110,750...43,129,712
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BTG4 BTG anti-proliferation factor 4 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,383,826...111,514,725
Ensembl chr11:111,467,526...111,514,367
JBrowse link
G C11orf1 chromosome 11 open reading frame 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,879,541...111,885,975
Ensembl chr11:111,878,935...111,885,975
JBrowse link
G C11orf52 chromosome 11 open reading frame 52 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,918,913...111,926,871
Ensembl chr11:111,918,032...111,926,871
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G C11orf87 chromosome 11 open reading frame 87 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:109,422,190...109,429,167
Ensembl chr11:109,422,190...109,429,167
JBrowse link
G CARD16 caspase recruitment domain family member 16 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,041,563...105,045,335
Ensembl chr11:105,041,326...105,101,431
JBrowse link
G CARD17P caspase recruitment domain family member 17, pseudogene IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,080,453...105,101,459
Ensembl chr11:105,092,469...105,101,431
JBrowse link
G CARD18 caspase recruitment domain family member 18 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,137,714...105,139,769
Ensembl chr11:105,137,714...105,531,697
JBrowse link
G CASP1 caspase 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G CASP4 caspase 4 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,942,866...104,968,574
Ensembl chr11:104,942,866...104,969,366
JBrowse link
G CASP5 caspase 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,994,243...105,023,168
Ensembl chr11:104,994,235...105,023,168
JBrowse link
G CCDC82 coiled-coil domain containing 82 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,352,773...96,389,912
Ensembl chr11:96,349,241...96,389,956
JBrowse link
G CEP126 centrosomal protein 126 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,915,010...102,001,062
Ensembl chr11:101,915,010...102,001,062
JBrowse link
G CEP57 centrosomal protein 57 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CNTN5 contactin 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,020,949...100,358,885
Ensembl chr11:99,020,949...100,358,885
JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G CUL5 cullin 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:108,008,898...108,107,761
Ensembl chr11:108,008,898...108,107,761
JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,962,620...94,973,556
Ensembl chr11:94,962,620...94,973,586
JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,326,360...107,457,825
Ensembl chr11:107,326,360...107,457,825
JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,050,686...103,092,160
Ensembl chr11:103,050,686...103,092,194
JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,036,640...104,039,196
Ensembl chr11:104,036,640...104,039,196
JBrowse link
G DDX10 DEAD-box helicase 10 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:108,665,069...108,940,927
Ensembl chr11:108,665,058...108,940,999
JBrowse link
G DIXDC1 DIX domain containing 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,927,315...112,022,653
Ensembl chr11:111,927,144...112,022,653
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,408...112,064,404
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G ELMOD1 ELMO domain containing 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,591,147...107,666,779
Ensembl chr11:107,591,091...107,666,779
JBrowse link
G ENDOD1 endonuclease domain containing 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,089,846...95,132,645
Ensembl chr11:95,089,846...95,132,645
JBrowse link
G EXPH5 exophilin 5 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:108,505,435...108,607,536
Ensembl chr11:108,505,435...108,593,768
JBrowse link
G FAM76B family with sequence similarity 76 member B IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,768,953...95,789,782
Ensembl chr11:95,768,953...95,790,409
JBrowse link
G FDX1 ferredoxin 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:110,429,331...110,464,884
Ensembl chr11:110,429,948...110,464,884
JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,874,056...111,879,165
Ensembl chr11:111,874,056...111,881,243
JBrowse link
G FUT4 fucosyltransferase 4 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,543,921...94,549,895
Ensembl chr11:94,543,921...94,549,895
JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,994...105,982,092
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,674,019...107,018,476
Ensembl chr11:106,674,019...107,018,476
JBrowse link
G HDAC4 histone deacetylase 4 treatment IEP
IDA
ISO
protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HOATZ HOATZ cilia and flagella associated protein IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,514,778...111,537,043
Ensembl chr11:111,514,778...111,537,043
JBrowse link
G HSPB2 heat shock protein family B (small) member 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,912,734...111,914,093
Ensembl chr11:111,912,734...111,914,093
JBrowse link
G IFNG interferon gamma IDA RGD PMID:6432389 RGD:8693328 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:6432389 RGD:8693328 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL6 interleukin 6 severity IEP RGD PMID:26851119 RGD:11529801 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G JRKL JRK like IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,390,013...96,393,561
Ensembl chr11:96,389,989...96,507,574
JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,051,098...106,077,347
Ensembl chr11:106,051,098...106,077,459
JBrowse link
G KDM4D lysine demethylase 4D IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,973,709...94,999,519
Ensembl chr11:94,973,709...94,999,519
JBrowse link
G KDM4E lysine demethylase 4E IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,025,258...95,027,596
Ensembl chr11:95,025,258...95,027,596
JBrowse link
G LAYN layilin IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,540,280...111,561,745
Ensembl chr11:111,540,280...111,561,745
JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,976,598...96,343,195
Ensembl chr11:95,976,598...96,343,195
JBrowse link
G MIR34B microRNA 34b IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,512,938...111,513,021
Ensembl chr11:111,512,938...111,513,021
JBrowse link
G MIR34BHG MIR34B and MIR34C host gene IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,510,602...111,513,888
Ensembl chr11:111,510,600...111,513,888
JBrowse link
G MIR34C microRNA 34c IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,513,439...111,513,515
Ensembl chr11:111,513,439...111,513,515
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP10 matrix metallopeptidase 10 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628
JBrowse link
G MMP12 matrix metallopeptidase 12 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP20 matrix metallopeptidase 20 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
JBrowse link
G MMP27 matrix metallopeptidase 27 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,691,487...102,705,769
Ensembl chr11:102,691,487...102,705,769
JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP7 matrix metallopeptidase 7 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MMP8 matrix metallopeptidase 8 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,007,899...106,022,287
Ensembl chr11:105,995,623...106,022,403
JBrowse link
G MTMR2 myotubularin related protein 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,832,880...95,924,107
Ensembl chr11:95,821,766...95,925,315
JBrowse link
G NKAPD1 NKAP domain containing 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:112,074,299...112,085,150
Ensembl chr11:112,074,086...112,085,150
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr11:108,157,215...108,222,638
Ensembl chr11:108,157,215...108,222,638
JBrowse link
G PDGFD platelet derived growth factor D IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,907,189...104,164,147
Ensembl chr11:103,907,189...104,164,379
JBrowse link
G PGR progesterone receptor IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813
JBrowse link
G PIH1D2 PIH1 domain containing 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:112,052,485...112,074,017
Ensembl chr11:112,063,218...112,074,274
JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,567,368...94,621,421
Ensembl chr11:94,543,840...94,621,421
JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:108,472,116...108,498,384
Ensembl chr11:108,472,112...108,498,384
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,245,725...111,286,401
Ensembl chr11:111,245,725...111,286,401
JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,298,546...111,308,735
Ensembl chr11:111,298,546...111,308,735
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389
JBrowse link
G RAB39A RAB39A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,928,448...107,963,482
Ensembl chr11:107,928,448...107,963,482
JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SESN3 sestrin 3 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,165,513...95,232,475
Ensembl chr11:95,165,513...95,232,541
JBrowse link
G SIK2 salt inducible kinase 2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:111,602,449...111,730,855
Ensembl chr11:111,602,449...111,730,855
JBrowse link
G SLC35F2 solute carrier family 35 member F2 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,790,991...107,858,787
Ensembl chr11:107,790,991...107,928,293
JBrowse link
G SLN sarcolipin IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:107,707,378...107,712,056
Ensembl chr11:107,707,378...107,719,693
JBrowse link
G SRSF8 serine and arginine rich splicing factor 8 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,066,877...95,071,225
Ensembl chr11:95,066,919...95,071,225
JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:112,084,800...112,086,756
Ensembl chr11:112,084,800...112,086,798
JBrowse link
G TMEM123 transmembrane protein 123 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,396,332...102,452,765
Ensembl chr11:102,396,332...102,470,384
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:110,092,506...110,171,841
Ensembl chr11:110,093,392...110,171,841
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR548L microRNA 548l IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:23080121 PMID:23912341 PMID:25640679 PMID:28492532 NCBI chr11:94,466,495...94,466,580
Ensembl chr11:94,466,495...94,466,580
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 More... NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
JBrowse link
G PCNA proliferating cell nuclear antigen EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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 IAGP 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 chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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 IAGP DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
ClinVar
OMIM
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207, RGD:10054301, RGD:10054300 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
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 IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
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 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:20696759 PMID:25326637 PMID:25741868 PMID:26604000 PMID:27145208 More... NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar
OMIM
PMID:9536098 PMID:14770181 PMID:15732101 PMID:17159128 PMID:17576681 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
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 IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712
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 IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 ClinVar
OMIM
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia variant
ClinVar Annotator: match by term: Ataxia - telangiectasia variant
ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia variant
ClinVar Annotator: match by term: Ataxia - telangiectasia variant
ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar
OMIM
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 More... NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
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 IAGP ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FGF14 fibroblast growth factor 14 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457
JBrowse link
G ITGBL1 integrin subunit beta like 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr13:101,452,675...101,723,106
Ensembl chr13:101,452,593...101,720,856
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 More... NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KIF26B kinesin family member 26B IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr 1:245,154,985...245,709,432
Ensembl chr 1:245,154,985...245,709,432
JBrowse link
G MTCL1 microtubule crosslinking factor 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr18:8,705,556...8,832,778
Ensembl chr18:8,705,556...8,832,778
JBrowse link
G PDYN prodynorphin IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
JBrowse link
G PDYN-AS1 PDYN antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr20:1,947,210...2,007,517
Ensembl chr20:1,947,246...2,030,028
JBrowse link
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
ClinVar
OMIM
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213 PMID:22036850 PMID:24164873 PMID:25741868 PMID:26467025 More... NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544
JBrowse link
G PRDX3 peroxiredoxin 3 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
JBrowse link
G SEPTIN11 septin 11 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr 4:76,949,752...77,040,154
Ensembl chr 4:76,949,751...77,040,384
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10 ClinVar
OMIM
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 More... NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 11 ClinVar
OMIM
PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr 1:209,938,217...210,171,389
Ensembl chr 1:209,900,923...210,171,389
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
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 chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar
OMIM
PMID:9536098 PMID:11572989 PMID:17470496 PMID:17576681 PMID:20480411 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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 IAGP ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 13
OMIM
ClinVar
PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:31319223 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14
ClinVar
OMIM
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:31571321 NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
ClinVar
OMIM
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 17
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17
ClinVar
OMIM
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 18 ClinVar
OMIM
PMID:23611888 PMID:24078737 PMID:25741868 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157
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 IAGP ClinVar Annotator: match by term: Lichtenstein-knorr syndrome
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome
ClinVar
OMIM
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 2
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
ClinVar
OMIM
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G SNX14 sorting nexin 14 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar
OMIM
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868 PMID:29419818 PMID:32860008 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 ClinVar
OMIM
PMID:25741868 PMID:26157035 NCBI chr 2:98,087,167...98,330,616
Ensembl chr 2:98,087,116...98,313,299
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 ClinVar
OMIM
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 ClinVar PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ClinVar
OMIM
PMID:15981765 PMID:26812546 NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26
ClinVar
OMIM
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
OMIM
ClinVar
PMID:25741868 PMID:30084953 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28
OMIM
ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 NCBI chr 5:157,731,420...157,741,449
Ensembl chr 5:157,731,420...157,741,449
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 OMIM
ClinVar
PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 OMIM
ClinVar
PMID:26697887 PMID:29383861 PMID:29764912 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 OMIM
ClinVar
PMID:34161705 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar
PMID:33889951 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 More... NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7
ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar
OMIM
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:11339651 More... NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FBXO5 F-box protein 5 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,970,535...152,983,579
Ensembl chr 6:152,970,519...152,983,579
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G LINC02840 long intergenic non-protein coding RNA 2840 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,829,874...152,875,997
Ensembl chr 6:152,754,903...152,875,991
JBrowse link
G MTRF1L mitochondrial translation release factor 1 like IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,987,362...153,002,709
Ensembl chr 6:152,987,362...153,002,709
JBrowse link
G MYCT1 MYC target 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,697,897...152,747,181
Ensembl chr 6:152,697,897...152,724,569
JBrowse link
G RGS17 regulator of G protein signaling 17 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:153,004,459...153,131,282
Ensembl chr 6:153,004,459...153,131,282
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
ClinVar
OMIM
RGD
PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 More... RGD:13209001 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar PMID:9536098 PMID:17159980 PMID:17576681 PMID:19542096 PMID:24319099 More... NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
JBrowse link
G VIP vasoactive intestinal peptide IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA7 cytochrome c oxidase assembly factor 7 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
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 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347
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 IAGP ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
ClinVar
OMIM
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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 IAGP DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 More... RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC246817.1 novel transcript IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532 PMID:35351988 NCBI chr 8:2,726,956...3,024,231
Ensembl chr 8:2,726,956...2,838,823
Ensembl chr 8:2,726,956...2,838,823
JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 IAGP ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr14:104,937,253...104,978,374
Ensembl chr14:104,937,244...104,978,374
JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility IAGP RGD PMID:14556008 RGD:1599348 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 NCBI chr19:10,543,904...10,553,418
Ensembl chr19:10,543,895...10,553,418
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:25741868 PMID:28492532 PMID:29909963 NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISS
IAGP
ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar
PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28492532 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474
JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
JBrowse link
G CLCN2 chloride voltage-gated channel 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544
JBrowse link
G CSMD1 CUB and Sushi multiple domains 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532 PMID:35351988 NCBI chr 8:2,935,361...4,994,914
Ensembl chr 8:2,935,353...4,994,972
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G ESR1 estrogen receptor 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G KLC2 kinesin light chain 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
JBrowse link
G LOC101927078 uncharacterized LOC101927078 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 NCBI chr 5:114,447,418...114,773,413 JBrowse link
G LRCH2 leucine rich repeats and calponin homology domain containing 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:115,110,616...115,234,096
Ensembl chr  X:115,110,616...115,234,096
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:23851226 PMID:25741868 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G NCDN neurochondrin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274
JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G PRKCG protein kinase C gamma IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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 5:177,301,198...177,303,719
Ensembl chr 5:177,301,198...177,303,744
JBrowse link
G RFC1 replication factor C subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RPL27A ribosomal protein L27a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr11:8,682,792...8,689,872
Ensembl chr11:8,682,788...8,714,759
JBrowse link
G SATB2 SATB homeobox 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810 PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 NCBI chr14:81,471,547...81,533,853
Ensembl chr14:81,471,547...81,533,853
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SNX14 sorting nexin 14 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:25848753 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
JBrowse link
G SPART spartin IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:24033266 PMID:25533962 PMID:25741868 PMID:26865513 PMID:26918652 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:28492532 PMID:17503513 RGD:13209009 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
JBrowse link
G SYNGAP1-AS1 SYNGAP1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,437,363...33,454,453
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930
JBrowse link
G ZNF236 zinc finger protein 236 IAGP ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901
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 IAGP 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 chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar
PMID:25477146 PMID:25741868 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 42
ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
ClinVar
OMIM
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47
ClinVar Annotator: match by term: Spinocerebellar ataxia 47
ClinVar
OMIM
PMID:25741868 PMID:29474920 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
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 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48
ClinVar Annotator: match by term: Spinocerebellar ataxia 48
ClinVar PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr16:681,670...684,334
Ensembl chr16:681,670...684,528
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 48
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48
OMIM
ClinVar
PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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 IAGP 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 chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851
JBrowse link
G CA8 carbonic anhydrase 8 IEA
ISS
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400
JBrowse link
G VLDLR very low density lipoprotein receptor IAGP
EXP
ClinVar Annotator: match by term: Dysequilibrium syndrome
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: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
JBrowse link
G VLDLR-AS1 VLDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation ClinVar PMID:16080122 PMID:25741868 PMID:28492532 NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,421,597...2,622,457
JBrowse link
G WDR81 WD repeat domain 81 IEA OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
JBrowse link
G VLDLR-AS1 VLDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
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 PMID:16080122 PMID:25741868 PMID:28492532 NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,421,597...2,622,457
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 ClinVar
OMIM
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
ClinVar
OMIM
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
ClinVar
OMIM
PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851
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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 4:139,057,220...139,177,915
Ensembl chr 4:139,028,112...139,177,218
JBrowse link
G RFC1 replication factor C subunit 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron:
OMIM
ClinVar
RGD
PMID:25741868 PMID:32040566 PMID:30926972 RGD:41404728, RGD:41404727 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375
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 IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay
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 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244
JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
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 3:50,350,862...50,368,197
Ensembl chr 3:50,350,845...50,358,460
Ensembl chr 3:50,350,845...50,358,460
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 IAGP ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar
OMIM
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KCNMA1-AS1 KCNMA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ClinVar PMID:25741868 PMID:28492532 NCBI chr10:76,888,044...76,978,593
Ensembl chr10:76,888,044...76,980,624
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 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar
OMIM
PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 PMID:30577886 More... NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552
JBrowse link
G EMC1-AS1 EMC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 NCBI chr 1:19,210,386...19,240,704
Ensembl chr 1:19,210,348...19,240,709
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 IAGP ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKFY1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
OMIM
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 More... NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
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 IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar
OMIM
PMID:25466870 PMID:25741868 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP 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 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia ClinVar
OMIM
PMID:25388005 PMID:25741868 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
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 IAGP ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G LOC109461484 atrophin 1 repeat instability region IAGP ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy ClinVar PMID:25741868 NCBI chr12:6,936,717...6,936,775 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 IAGP ClinVar Annotator: match by term: Episodic ataxia, type 5 ClinVar
OMIM
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167
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 IAGP ClinVar Annotator: match by term: Episodic ataxia, type 6
ClinVar Annotator: match by term: Episodic ataxia type 6
ClinVar
OMIM
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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 IAGP
EXP
ClinVar Annotator: match by term: Familial hemiplegic migraine type 1
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G LOC108663985 calcium voltage-gated channel subunit alpha1 A repeat instability region IAGP ClinVar Annotator: match by term: Familial hemiplegic migraine type 1 ClinVar PMID:19586927 NCBI chr19:13,207,859...13,207,898 JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin IAGP
EXP
DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Friedreich's ataxia
DNA:repeat:intron:GAA (human)
ClinVar
CTD
RGD
PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 More... RGD:1598961, RGD:1582636 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin IAGP ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:34906502 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G TP53RK TP53 regulating kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
G TPRKB TP53RK binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR73 WD repeat domain 73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
JBrowse link
G ZNF592 zinc finger protein 592 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445
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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
JBrowse link
G ZNF592 zinc finger protein 592 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf122 chromosome 1 open reading frame 122 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 10 ClinVar PMID:31481669 NCBI chr 1:37,807,790...37,809,454
Ensembl chr 1:37,806,979...37,809,454
JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
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 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
ClinVar
OMIM
PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 NCBI chr14:20,451,644...20,455,336 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar
OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
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 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
ClinVar
OMIM
PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
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 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 7
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7
OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
OMIM
ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
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 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 9 OMIM
ClinVar
PMID:31481669 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065
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 IAGP ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 More... NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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 IAGP ClinVar Annotator: match by term: Gordon holmes syndrome
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome
ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar
OMIM
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696
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 AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
ClinVar PMID:22855961 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 More... NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
ClinVar
OMIM
PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
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 IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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 IAGP ClinVar Annotator: match by term: Dementia, familial Danish
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar
OMIM
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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
IAGP
EXP
IMP
IDA
IEP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Azorean disease
protein:increased degradation, altered localization:neuron, nucleus
CTD
OMIM
ClinVar
RGD
PMID:31378764 PMID:7874163 PMID:18841197 PMID:18385100 PMID:18385100 More... RGD:1599419, RGD:11558010, RGD:5131159, RGD:5131159, RGD:11557998, RGD:11557997 NCBI chr14:92,058,552...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G BECN1 beclin 1 ISO
IMP
IEP
protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185 PMID:21478185 PMID:21478185 RGD:6483072, RGD:6483072, RGD:6483072 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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 IEA
IAGP
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
ClinVar PMID:25741868 PMID:28492532 NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
ClinVar
OMIM
PMID:25741868 PMID:28492532 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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 IAGP ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
JBrowse link
G PITRM1-AS1 PITRM1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr10:3,141,601...3,148,629
Ensembl chr10:3,141,632...3,167,972
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia
ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: SCA8 (formerly)
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: mitochondrial hepatopathy
ClinVar
OMIM
PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Myelocerebellar disorder
ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome
ClinVar
OMIM
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ClinVar
OMIM
PMID:33963192 NCBI chr 5:154,887,411...154,938,211
Ensembl chr 5:154,887,411...154,938,211
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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ClinVar PMID:25741868 PMID:30420557 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP 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
ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder
ClinVar
OMIM
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 More... NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694
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 IAGP OMIM NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link