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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 IMP RGD PMID:9192671 RGD:1300269 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 More... NCBI chr10:76,544,626...76,561,878
Ensembl chr10:76,544,626...76,562,002
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:25741868 NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:25741868 NCBI chr 7:3,351,982...3,379,615
Ensembl chr 7:3,337,704...3,379,615
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Hereditary ataxia ClinVar PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 More... NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO OMIM NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Sensorimotor neuropathy ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:20504773 More... NCBI chr13:53,486,784...53,531,453
Ensembl chr13:53,486,784...53,531,433
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110032A03Rik RIKEN cDNA 1110032A03 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,672,674...50,679,536
Ensembl chr 9:50,674,128...50,686,820
JBrowse link
G 2310030G06Rik RIKEN cDNA 2310030G06 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,650,991...50,657,827
Ensembl chr 9:50,650,991...50,657,836
JBrowse link
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,294,793...4,309,656
Ensembl chr 9:4,294,793...4,309,471
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,491,822...53,521,650
Ensembl chr 9:53,491,822...53,521,682
JBrowse link
G AI593442 expressed sequence AI593442 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,584,332...52,593,434
Ensembl chr 9:52,584,342...52,591,080
JBrowse link
G Alg9 asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,686,525...50,754,939
Ensembl chr 9:50,686,319...50,754,842
JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,335,231...3,391,154
Ensembl chr 9:3,335,140...3,391,154
JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352
JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,690,916...14,695,869
Ensembl chr 9:14,690,914...14,696,152
JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,676,651...51,765,158
Ensembl chr 9:51,676,637...51,765,156
JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,992,508...9,239,032
Ensembl chr 9:8,994,330...9,239,106
JBrowse link
G Atm ataxia telangiectasia mutated ISO
IEA
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
OMIM:208900
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 More... RGD:12879399, RGD:10053611 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983
JBrowse link
G Bax BCL2-associated X protein susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:45,111,119...45,116,344
Ensembl chr 7:45,111,121...45,116,322
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr15:83,410,992...83,428,836
Ensembl chr15:83,411,063...83,428,835
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,013,486...51,031,224
Ensembl chr 9:50,972,201...51,031,175
JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032
JBrowse link
G Casp4 caspase 4, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,308,816...5,336,791
Ensembl chr 9:5,308,828...5,336,783
JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,246,573...13,292,867
Ensembl chr 9:13,246,536...13,292,867
JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,076,461...8,134,473
Ensembl chr 9:8,076,462...8,134,295
JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403
JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,021,673...8,042,876
Ensembl chr 9:8,021,673...8,042,824
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:9,627,928...10,904,992
Ensembl chr 9:9,660,896...10,904,780
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,525,881...53,578,807
Ensembl chr 9:53,525,882...53,581,314
JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,411,876...14,421,920
Ensembl chr 9:14,411,913...14,421,873
JBrowse link
G Cwf19l2 CWF19-like 2, cell cycle control (S. pombe) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,403,592...3,479,236
Ensembl chr 9:3,403,592...3,479,236
JBrowse link
G Dcun1d5 DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,176,590...7,220,880
Ensembl chr 9:7,184,520...7,208,205
JBrowse link
G Ddi1 DNA-damage inducible 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,265,028...6,266,547
Ensembl chr 9:6,262,733...6,269,846
JBrowse link
G Ddx10 DEAD box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,009,754...53,159,423
Ensembl chr 9:53,009,935...53,159,353
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446
JBrowse link
G Elmod1 ELMO/CED-12 domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,818,741...53,882,712
Ensembl chr 9:53,818,741...53,882,585
JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,265,286...14,292,538
Ensembl chr 9:14,265,286...14,292,803
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,212,814...53,292,466
Ensembl chr 9:53,212,970...53,288,814
JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,738,490...13,766,033
Ensembl chr 9:13,739,012...13,766,283
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,854,323...51,874,902
Ensembl chr 9:51,854,606...51,874,856
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,679,538...50,683,981
Ensembl chr 9:50,679,536...50,684,648
JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,659,755...14,663,418
Ensembl chr 9:14,659,616...14,663,689
JBrowse link
G Gm19324 predicted gene, 19324 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,142,542...8,181,113
Ensembl chr 9:8,142,542...8,185,130
JBrowse link
G Gria4 glutamate receptor, ionotropic, AMPA4 (alpha 4) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,417,893...4,796,250
Ensembl chr 9:4,417,896...4,796,234
JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO
IEP
protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378
JBrowse link
G Hspb2 heat shock protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,662,372...50,663,654
Ensembl chr 9:50,662,378...50,663,654
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Jrkl Jrk-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,242,795...13,245,746
Ensembl chr 9:13,242,612...13,245,834
JBrowse link
G Kbtbd3 kelch repeat and BTB (POZ) domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,309,743...4,331,829
Ensembl chr 9:4,309,833...4,331,732
JBrowse link
G Kdm4d lysine (K)-specific demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,373,844...14,411,818
Ensembl chr 9:14,373,844...14,411,778
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,966,323...50,988,501
Ensembl chr 9:50,965,940...50,988,394
JBrowse link
G Maml2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,296,547...13,620,829
Ensembl chr 9:13,298,306...13,620,684
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980
JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,571,397...7,581,886
Ensembl chr 9:7,571,397...7,581,886
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,692,091...7,699,586
Ensembl chr 9:7,692,091...7,699,586
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486
JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,695,939...14,753,639
Ensembl chr 9:14,695,950...14,748,419
JBrowse link
G Msantd4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,376,552...4,386,890
Ensembl chr 9:4,376,562...4,386,870
JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,516,540...50,528,764
Ensembl chr 9:50,516,540...50,528,764
JBrowse link
G Npat nuclear protein in the AT region ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 9:53,448,189...53,486,927
Ensembl chr 9:53,448,347...53,485,642
JBrowse link
G Pdgfd platelet-derived growth factor, D polypeptide ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850
JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,528,621...50,536,300
Ensembl chr 9:50,528,621...50,536,300
JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,613,072...14,651,968
Ensembl chr 9:14,607,526...14,652,036
JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,294,217...53,313,167
Ensembl chr 9:53,295,325...53,313,167
JBrowse link
G Pou2af1 POU domain, class 2, associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,124,990...51,151,379
Ensembl chr 9:51,125,008...51,151,380
JBrowse link
G Pou2af2 POU domain, class 2, associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,200,986...51,240,224
Ensembl chr 9:51,200,986...51,240,224
JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,181,558...51,189,897
Ensembl chr 9:51,181,558...51,190,951
JBrowse link
G Ppp2r1b protein phosphatase 2, regulatory subunit A, beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,767,946...50,810,625
Ensembl chr 9:50,756,601...50,805,529
JBrowse link
G Rab39 RAB39, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,595,410...53,617,532
Ensembl chr 9:53,595,410...53,617,532
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112
JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,187,597...14,237,430
Ensembl chr 9:14,186,363...14,244,397
JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373
JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,678,733...53,725,445
Ensembl chr 9:53,678,822...53,725,438
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,757,535...53,761,133
Ensembl chr 9:53,757,448...53,761,844
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,515,201...50,516,620
Ensembl chr 9:50,515,210...50,516,620
JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,764,078...7,794,334
Ensembl chr 9:7,764,042...7,794,334
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,020,869...52,080,028
Ensembl chr 9:52,022,644...52,079,872
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 More... NCBI chr 9:14,695,939...14,753,639
Ensembl chr 9:14,695,950...14,748,419
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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 ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:25741868 PMID:28492532 PMID:30460542 NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
JBrowse link
Ataxia-oculomotor apraxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM
ClinVar
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483
JBrowse link
Ataxia-oculomotor apraxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:20696759 PMID:25326637 PMID:25741868 PMID:26604000 PMID:27145208 More... NCBI chr16:16,130,092...16,176,902
Ensembl chr16:16,130,094...16,176,823
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM
ClinVar
PMID:9536098 PMID:14770181 PMID:15732101 PMID:17159128 PMID:17576681 More... NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483
JBrowse link
ataxia-oculomotor apraxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr11:68,322,951...68,388,675
Ensembl chr11:68,322,947...68,388,675
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 More... NCBI chr 9:14,695,939...14,753,639
Ensembl chr 9:14,695,950...14,748,419
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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 AAA ATPase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:28492532 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr14:124,211,853...124,915,098
Ensembl chr14:124,215,319...124,914,539
JBrowse link
G Itgbl1 integrin, beta-like 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr14:123,897,331...124,215,173
Ensembl chr14:123,897,383...124,213,030
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:19423733 PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr 1:178,356,690...178,766,765
Ensembl chr 1:178,356,690...178,766,765
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 7:3,351,982...3,379,615
Ensembl chr 7:3,337,704...3,379,615
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:129,954,336...129,996,152
Ensembl chr 2:129,954,336...129,996,152
JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 2:120,563,297...120,681,065
Ensembl chr 2:120,563,297...120,681,085
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 (cytosine-5) 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 9:122,004,940...122,123,508
Ensembl chr 9:122,004,940...122,123,489
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213 PMID:22036850 PMID:24164873 PMID:25741868 PMID:26467025 More... NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167
JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr 5:93,227,445...93,329,237
Ensembl chr 5:93,241,296...93,324,306
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 More... NCBI chr 9:122,004,940...122,123,508
Ensembl chr 9:122,004,940...122,123,489
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 XIV ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar
PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr 1:192,564,956...192,718,179
Ensembl chr 1:192,573,541...192,718,083
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 avian musculoaponeurotic fibrosarcoma oncogene homolog ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More... NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY OMIM
ClinVar
PMID:9536098 PMID:11572989 PMID:17470496 PMID:17576681 PMID:20480411 More... NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447
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 receptor, metabotropic 1 ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13
OMIM:614831
OMIM
ClinVar
MouseDO
PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:31319223 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 OMIM
ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
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 RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr16:32,642,072...32,698,121
Ensembl chr16:32,642,073...32,698,136
JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:31571321 NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817
JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
OMIM:615768
OMIM
ClinVar
MouseDO
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378
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 1, cell cycle control (S. pombe) ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr19:44,097,076...44,124,324
Ensembl chr19:44,097,076...44,124,315
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 receptor, ionotropic, delta 2 ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM:616204
OMIM
ClinVar
MouseDO
PMID:23611888 PMID:24078737 PMID:25741868 NCBI chr 6:63,230,118...64,681,305
Ensembl chr 6:63,232,860...64,681,307
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 (sodium/hydrogen exchanger), member 1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome OMIM
ClinVar
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013
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) alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 OMIM
ClinVar
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 NCBI chr 2:26,275,554...26,287,133
Ensembl chr 2:26,279,351...26,287,134
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-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 ClinVar NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 OMIM
ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 NCBI chr 9:88,258,805...88,320,982
Ensembl chr 9:88,258,800...88,321,011
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 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome OMIM
ClinVar
PMID:25741868 PMID:29419818 PMID:32860008 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447
JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 OMIM
ClinVar
PMID:25741868 PMID:26157035 NCBI chr 1:37,068,372...37,226,689
Ensembl chr 1:37,065,677...37,226,694
JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency OMIM
ClinVar
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 ClinVar
OMIM
PMID:15981765 PMID:26812546 NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287
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 complementing defective repair in Chinese hamster cells 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside-induced differentiation-associated-protein 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar
PMID:25741868 PMID:30084953 NCBI chr 3:100,069,697...100,114,305
Ensembl chr 3:100,069,697...100,114,297
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 (S. cerevisiae) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 NCBI chr11:45,836,132...45,846,330
Ensembl chr11:45,837,670...45,846,321
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 HOPS complex subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar
PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr13:18,901,462...19,050,981
Ensembl chr13:18,901,456...19,050,981
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 metallepetidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar
PMID:26697887 PMID:29383861 PMID:29764912 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar
PMID:34161705 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar
PMID:33889951 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
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 13D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome OMIM
ClinVar
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 More... NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575
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 I ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:11339651 More... NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442
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 (alpha) ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,749,155...5,755,465
Ensembl chr10:5,749,160...5,755,600
JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,760,151...5,775,015
Ensembl chr10:5,761,887...5,773,910
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,543,728...5,556,789
Ensembl chr10:5,543,775...5,556,904
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,775,663...5,872,413
Ensembl chr10:5,775,663...5,872,400
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 More... RGD:13209001 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482
JBrowse link
G Vip vasoactive intestinal polypeptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar
PMID:25741868 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 4:108,185,349...108,197,915
Ensembl chr 4:108,185,337...108,198,741
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
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, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 More... RGD:11576280 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ataxia, cerebellar, Cayman type ISO
IEA
ClinVar Annotator: match by term: Cayman type cerebellar ataxia
OMIM:601238
OMIM
ClinVar
MouseDO
PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:25741868 PMID:28492532 PMID:29909963 NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277
JBrowse link
G Atcay ataxia, cerebellar, Cayman type susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667
JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 NCBI chr 9:21,176,496...21,186,133
Ensembl chr 9:21,176,589...21,189,068
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IEA
ISO
ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar
PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28492532 More... NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:32,252,724...32,268,325
Ensembl chr 2:32,242,339...32,270,982
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167
JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532 PMID:35351988 NCBI chr 8:15,942,538...17,586,908
Ensembl chr 8:15,942,537...17,585,602
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235
JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
JBrowse link
G Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 NCBI chr18:45,401,754...45,818,954
Ensembl chr18:45,401,927...45,819,091
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr11:70,591,170...70,622,796
Ensembl chr11:70,591,374...70,622,790
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:5,157,774...5,168,326
Ensembl chr19:5,157,774...5,168,588
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647
JBrowse link
G Lrch2 leucine-rich repeats and calponin homology (CH) domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:146,253,371...146,337,198
Ensembl chr  X:146,253,371...146,337,077
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:23851226 PMID:25741868 NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 4:126,637,543...126,647,560
Ensembl chr 4:126,637,543...126,647,231
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 2:26,275,554...26,287,133
Ensembl chr 2:26,279,351...26,287,134
JBrowse link
G Polg polymerase (DNA directed), gamma ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 2:32,126,652...32,145,017
Ensembl chr 2:32,126,602...32,145,017
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 7:3,351,982...3,379,615
Ensembl chr 7:3,337,704...3,379,615
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283
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 chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 5:65,419,195...65,495,960
Ensembl chr 5:65,419,193...65,493,013
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 7:109,118,402...109,121,576
Ensembl chr 7:109,118,354...109,121,574
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:56,833,140...57,019,407
Ensembl chr 1:56,833,140...57,017,809
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810 PMID:25741868 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
JBrowse link
G Sel1l sel-1 suppressor of lin-12-like (C. elegans) ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 5:52,797,431...52,827,104
Ensembl chr 5:52,797,429...52,827,050
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:118,965,942...118,994,527
Ensembl chr 4:118,965,908...118,995,180
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:25848753 NCBI chr 9:88,258,805...88,320,982
Ensembl chr 9:88,258,800...88,321,011
JBrowse link
G Spg20 spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:55,019,500...55,044,753
Ensembl chr 3:55,019,529...55,044,743
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:24033266 PMID:25533962 PMID:25741868 PMID:26865513 PMID:26918652 More... NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO 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 chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr17:27,160,186...27,191,408
Ensembl chr17:27,160,227...27,191,408
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:25741868 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008
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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar
PMID:25477146 PMID:25741868 NCBI chr 3:36,674,631...36,744,577
Ensembl chr 3:36,674,631...36,744,316
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 channel, voltage-dependent, T type, alpha 1G subunit ISO
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM:616795
OMIM
ClinVar
MouseDO
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 47 ClinVar
OMIM
PMID:25741868 PMID:29474920 NCBI chr 4:130,390,509...130,508,875
Ensembl chr 4:130,390,632...130,508,875
JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817
JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar
PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 More... NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378
JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS OMIM
ClinVar
PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793
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, aminophospholipid transporter-like, class I, type 8A, member 2 IEA
ISO
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
MouseDO
CTD
ClinVar
PMID:25741868 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628
JBrowse link
G Car8 carbonic anhydrase 8 IEA
ISS
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 4:8,141,493...8,239,226
Ensembl chr 4:8,143,362...8,239,041
JBrowse link
G Vldlr very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM
ClinVar
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM
ClinVar
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543
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 Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 OMIM
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 4:8,141,493...8,239,226
Ensembl chr 4:8,143,362...8,239,041
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, aminophospholipid transporter-like, class I, type 8A, member 2 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar
PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628
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 factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 3:51,160,141...51,248,101
Ensembl chr 3:51,160,141...51,248,084
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO 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 5:65,419,195...65,495,960
Ensembl chr 5:65,419,193...65,493,013
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 channel, voltage-dependent, alpha 2/delta subunit 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 More... NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542
JBrowse link
G Cyb561d2 cytochrome b-561 domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:107,416,210...107,419,392
Ensembl chr 9:107,416,206...107,419,392
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 large conductance calcium-activated channel, subfamily M, alpha member 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder OMIM
ClinVar
PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 PMID:30577886 More... NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041
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 90 kDa subunit ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
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 IEA OMIM:270550 MouseDO NCBI chr11:72,580,828...72,662,972
Ensembl chr11:72,580,832...72,662,972
JBrowse link
G Sacs sacsin ISO
IEA
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
OMIM:270550
OMIM
ClinVar
MouseDO
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 More... NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:61,456,555...61,495,939
Ensembl chr14:61,456,564...61,495,939
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 PMID:25741868 NCBI chr14:119,175,344...119,219,114
Ensembl chr14:119,175,388...119,219,109
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 4:101,353,845...101,499,996
Ensembl chr 4:101,353,828...101,499,996
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: BIRK-FLUSSER SYNDROME | ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM
ClinVar
PMID:25388005 PMID:25741868 NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487
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 channel, voltage-dependent, beta 4 subunit ISO ClinVar Annotator: match by term: Episodic ataxia type 5 OMIM
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:52,318,332...52,566,816
Ensembl chr 2:52,318,332...52,566,843
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 (glial high affinity glutamate transporter), member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 OMIM
ClinVar
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248
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 channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 More... NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO
IEA
DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
CTD Direct Evidence: marker/mechanism
OMIM:229300 | OMIM:601992
DNA:repeat:intron:GAA (human)
ClinVar
CTD
MouseDO
RGD
PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 More... RGD:1598961, RGD:1582636 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:34906502 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266
JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:165,332,032...165,335,234
Ensembl chr 2:165,332,030...165,335,244
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110065P20Rik RIKEN cDNA 1110065P20 gene ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 4:124,743,278...124,744,523
Ensembl chr 4:124,742,873...124,744,989
JBrowse link
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar
PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107399302 Apex1 promoter region ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 NCBI chr14:51,162,126...51,162,598 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr 2:165,332,032...165,335,234
Ensembl chr 2:165,332,030...165,335,244
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr10:117,586,526...117,628,641
Ensembl chr10:117,586,526...117,628,610
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 8:124,623,862...124,676,004
Ensembl chr 8:124,623,862...124,676,004
JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar
PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062
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 1 ISO ClinVar Annotator: match by term: Gillespie syndrome OMIM
ClinVar
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome OMIM
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 NCBI chr 5:142,976,648...143,098,793
Ensembl chr 5:142,976,648...143,098,749
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism OMIM
ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042
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, mitochondrial ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr15:81,799,231...81,813,824
Ensembl chr15:81,772,429...81,810,441
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation, altered localization:neuron, nucleus
ClinVar Annotator: match by term: Azorean disease
OMIM
CTD
ClinVar
RGD
PMID:31378764 PMID:18841197 PMID:18385100 PMID:9804376 PMID:20308049 More... RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997, RGD:1599419 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
JBrowse link
G Becn1 beclin 1, autophagy related IEP
ISO
protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185 PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
G Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444
JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISS
ISO
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833
JBrowse link
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
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 metallepetidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar
PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9-like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome OMIM
ClinVar
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 6:3,372,257...3,399,571
Ensembl chr 6:3,372,257...3,399,572
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ClinVar
OMIM
PMID:33963192 NCBI chr11:58,010,827...58,059,378
Ensembl chr11:58,010,828...58,059,365
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 protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures ClinVar PMID:25741868 PMID:30420557 NCBI chr13:59,597,348...59,705,184
Ensembl chr13:59,593,556...59,733,041
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM
ClinVar
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 More... NCBI chr 5:140,690,246...140,705,134
Ensembl chr 5:140,690,766...140,705,134
JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta1 calmodulin binding transcription activator 1 ISO OMIM NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,001,779...151,946,333
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700029J07Rik RIKEN cDNA 1700029J07 gene ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477
JBrowse link
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995
JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 ClinVar PMID:24164873 NCBI chr 1:179,787,058...179,993,171
Ensembl chr 1:179,788,037...179,993,168
JBrowse link
G Coq8a coenzyme Q8A ISO
IEA
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
OMIM:612016
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:12682339 PMID:15326254 PMID:17576681 PMID:18319072 More... NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167
JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 ISO
IEA
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr17:25,235,056...25,318,473
Ensembl chr17:25,235,059...25,318,469
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,339,328...25,344,256
Ensembl chr17:25,339,734...25,344,266
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,318,543...25,334,951
Ensembl chr17:25,318,544...25,334,941
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 NCBI chr17:25,276,676...25,300,088
Ensembl chr17:25,276,676...25,302,565
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 7:37,882,642...37,896,992
Ensembl chr 7:37,882,642...37,896,992
JBrowse link
G Afg3l2 AFG3-like AAA ATPase 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
RGD
PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:132,738,576...132,805,421
Ensembl chr 4:132,738,571...132,805,421
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:10,981,842...10,996,710
Ensembl chr15:10,981,842...10,996,712
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:107,981,375...107,993,982
Ensembl chr 3:107,981,378...107,993,967
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr 8:22,482,799...22,550,632
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
G Cacnb4 calcium channel, voltage-dependent, beta 4 subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:52,318,332...52,566,816
Ensembl chr 2:52,318,332...52,566,843
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia