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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:Ataxia
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Accession:DOID:9004866 term browser browse the term
Definition:Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Synonyms:exact_synonym: Appendicular Ataxia;   Appendicular Ataxias;   Ataxias;   Ataxy;   Coordination Impairment;   Coordination Impairments;   Coordination Lack;   Dyscoordination;   Dyssynergia;   Incoordination;   Incoordinations;   Lack of Coordination;   Limb Ataxia;   Limb Ataxias;   Motor Ataxia;   Motor Ataxias;   Rubral Tremor;   Rubral Tremors;   Sensory Ataxia;   Sensory Ataxias;   Truncal Ataxia;   Truncal Ataxias
 primary_id: MESH:D001259



show annotations for term's descendants           Sort by:
Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16892088 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Arcn1 archain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20502676 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO DNA:insertions, deletion:intron, exons (mouse) RGD PMID:14556008 RGD:1599348 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:9712667 RGD:8632994 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17376154 PMID:9060410 RGD:10054423 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10762541 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO RGD PMID:11086988 RGD:734780 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
JBrowse link
G Cntn1 contactin 1 ISO RGD PMID:10595523 RGD:734798 NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Sensory ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12572680 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cplx1 complexin 1 ISO
IMP
RGD PMID:11163241 PMID:31875236 RGD:734813, RGD:127285808 NCBI chr14:1,184,677...1,216,392 JBrowse link
G Ddo D-aspartate oxidase ISO CTD Direct Evidence: therapeutic CTD PMID:25979765 NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30074247 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Dyssynergia ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Egr3 early growth response 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16091474 NCBI chr15:45,150,335...45,156,052
Ensembl chr15:45,150,567...45,154,627
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12404077 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16091474 NCBI chr14:36,590,782...36,667,724
Ensembl chr14:36,590,782...36,665,844
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Dyssynergia ClinVar PMID:25741868 PMID:28377535 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747469 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO RGD PMID:10426189 RGD:6482816 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: therapeutic CTD PMID:31783120 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutation: :m.9035T>C (human) RGD PMID:19626676 RGD:5490257 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Dyssynergia ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32014472 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds:p.A467T,p.Q497H,p.W748S(human) RGD PMID:15824347 RGD:8694191 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:11726926 RGD:1302554 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Reln reelin ISO RGD PMID:7715726 RGD:2324615 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11603379 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: therapeutic CTD PMID:31783120 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29732603 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Ttpa alpha tocopherol transfer protein susceptibility ISO DNA:frameshift mutations: ; associated with Vitamin E Deficiency RGD PMID:7719340 RGD:1600430 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Uroc1 urocanate hydratase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19304569 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
adult-onset ataxia and polyneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset ClinVar PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:8644724 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
OMIM
CTD
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
JBrowse link
G Atm ATM serine/threonine kinase ISO
ISS
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
ClinVar
OMIM
MouseDO
CTD
RGD
PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... RGD:10053611, RGD:12879399 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G C8h11orf87 similar to human chromosome 11 open reading frame 87 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
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 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
JBrowse link
G Ddi1 DNA-damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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 8:11,209,113...11,238,507
Ensembl chr 8:11,211,110...11,238,892
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jrkl JRK-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
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 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
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 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,088,246...54,105,867
Ensembl chr 8:54,088,129...54,106,483
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
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 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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 8:4,922,077...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM
ClinVar
CTD
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3
OMIM
CTD
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM
ClinVar
PMID:25741868 PMID:29758562 PMID:33783914 NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
autosomal dominant cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232
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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35401678 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26489027 PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 More... NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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 chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
OMIM
CTD
ClinVar
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
autosomal dominant sensory ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf170 ring finger protein 170 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1
OMIM
CTD
ClinVar
PMID:17190954 PMID:18414213 PMID:21115467 PMID:25741868 PMID:25882839 More... NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
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 chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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:16199547 PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 More... NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar
PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069
JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27959697 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM:614322
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 More... NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition
OMIM:614831
OMIM
ClinVar
MouseDO
PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 More... NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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:28492532 More... NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO
ISS
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 chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961
JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO
ISS
OMIM:616204
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM
MouseDO
ClinVar
PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome
OMIM
CTD
ClinVar
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 ClinVar NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... NCBI chr 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29419818 PMID:32146038 PMID:32860008 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611
JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 OMIM
ClinVar
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
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 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 ClinVar
OMIM
PMID:15981765 PMID:26812546 NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 2:187,528,514...187,585,270
Ensembl chr 2:187,528,513...187,585,270
JBrowse link
autosomal recessive spinocerebellar ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thg1l tRNA-histidine guanylyltransferase 1-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
JBrowse link
autosomal recessive spinocerebellar ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar
PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr17:46,063,132...46,227,533
Ensembl chr17:46,063,124...46,227,791
JBrowse link
autosomal recessive spinocerebellar ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar
PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 NCBI chr17:63,795,670...63,827,317
Ensembl chr17:63,795,671...63,839,907
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:25741868 PMID:34161705 PMID:35405176 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar
PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
autosomal recessive spinocerebellar ataxia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 OMIM
ClinVar
PMID:27863452 NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: VPS13D-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: TPP1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,196,068...42,202,437
Ensembl chr 1:42,196,068...42,202,437
JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:42,210,583...42,220,836
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:42,018,137...42,029,410
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
OMIM
ClinVar
CTD
RGD
PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... RGD:13209001 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of
CTD
OMIM
ClinVar
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
OMIM
CTD
ClinVar
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:25741868 PMID:28492532 PMID:31448845 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ATCAY kinesin light chain interacting caytaxin ISO
ISS
OMIM:601238
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cayman type cerebellar ataxia
OMIM
MouseDO
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 PMID:37341581 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS
ISO
ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar
PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 PMID:25741868 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36136249 NCBI chr 3:90,152,305...90,230,447
Ensembl chr 3:90,153,620...90,230,502
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
JBrowse link
G Cers1 ceramide synthase 1 treatment ISO RGD PMID:21625621 RGD:156431058 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35351988 NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:36675067 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 PMID:36746441 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210
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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30548255 NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
JBrowse link
G Pde1b phosphodiesterase 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:134,627,378...134,654,581
Ensembl chr 7:134,627,322...134,654,580
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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 chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:25741914 PMID:27129381 PMID:28328138 NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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 chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:163,539,732...163,542,771 JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810 PMID:25741868 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 PMID:37341581 NCBI chr 6:110,735,450...110,779,695
Ensembl chr 6:110,735,450...110,779,648
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 More... NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 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 chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28192369 NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872
JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 PMID:28492532 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO
ISS
OMIM:616795
ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar
PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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:28492532 PMID:30381368 PMID:31126790 More... NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
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:25258038 PMID:25741868 PMID:28492532 PMID:30381368 More... NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
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 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
MouseDO
ClinVar
PMID:25741868 NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
JBrowse link
G Car8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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:16199547 PMID:18043714 PMID:18326629 More... NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM
ClinVar
PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:25741909 More... NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar
PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:25741905 More... NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
JBrowse link
G Rfc1 replication factor C subunit 1 ISO DNA:repeats:intron:(AAGGG)n (human)
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron:
OMIM
ClinVar
RGD
PMID:25741868 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 More... RGD:401940162, RGD:41404728, RGD:41404727 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome
OMIM
CTD
ClinVar
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome
CTD
ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM
PMID:27013236 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
JBrowse link
G Sacs sacsin molecular chaperone ISO
ISS
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM:270550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:31855247 NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: COACH syndrome ClinVar PMID:16783569 PMID:18546297 PMID:27081566 PMID:28492532 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Tmem67 transmembrane protein 67 ISO DNA:missense mutati