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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16892088 |
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NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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G |
Arcn1 |
archain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20502676 |
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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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
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G |
Atp7a |
ATPase copper transporting alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22815746 |
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Bdnf |
brain-derived neurotrophic factor |
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ISO |
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RGD |
PMID:9712667 |
RGD:8632994 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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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
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G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14660671 |
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NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10762541 |
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NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
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G |
Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
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RGD |
PMID:11086988 |
RGD:734780 |
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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G |
Cntn1 |
contactin 1 |
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ISO |
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RGD |
PMID:10595523 |
RGD:734798 |
NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Sensory ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12572680 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Cplx1 |
complexin 1 |
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ISO IMP |
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RGD |
PMID:11163241 PMID:31875236 |
RGD:734813, RGD:127285808 |
NCBI chr14:1,184,638...1,216,392
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G |
Ddo |
D-aspartate oxidase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25979765 |
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NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095
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G |
Dmd |
dystrophin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30074247 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Ebf3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia |
ClinVar |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 |
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NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
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G |
Egr3 |
early growth response 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16091474 |
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NCBI chr15:45,150,335...45,156,052
Ensembl chr15:45,150,567...45,154,627
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12404077 |
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NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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G |
Gabra4 |
gamma-aminobutyric acid type A receptor subunit alpha 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16091474 |
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NCBI chr14:36,590,782...36,667,724
Ensembl chr14:36,590,782...36,665,844
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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ISO |
ClinVar Annotator: match by term: Ataxia |
ClinVar |
PMID:25741868 PMID:28377535 PMID:28492532 |
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NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19747469 |
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NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
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RGD |
PMID:10426189 |
RGD:6482816 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Mapt |
microtubule-associated protein tau |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31783120 |
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NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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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
Ensembl chr MT:7,919...8,599
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Ataxia |
ClinVar |
PMID:28027978 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32014472 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21273508 |
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NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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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
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
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RGD |
PMID:11726926 |
RGD:1302554 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Reln |
reelin |
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ISO |
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RGD |
PMID:7715726 |
RGD:2324615 |
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19261867 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11603379 |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Snca |
synuclein alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31783120 |
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NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29732603 |
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NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
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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
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G |
Uroc1 |
urocanate hydratase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19304569 |
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NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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G |
Ccdc39 |
coiled-coil domain containing 39 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Fxr1 |
FMR1 autosomal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
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G |
Mttp |
microsomal triglyceride transfer protein |
|
ISO |
ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy |
ClinVar |
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 More...
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NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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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 PMID:8750605 PMID:9568930 PMID:9762610 PMID:11916326 PMID:16049925 PMID:18055910 PMID:25741868 PMID:32906214 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
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 ClinVar |
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Amotl1 |
angiomotin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Ankrd49 |
ankyrin repeat domain 49 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap42 |
Rho GTPase activating protein 42 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
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G |
Atm |
ATM serine/threonine kinase |
|
ISO 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 DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1849795 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2677459 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072877 PMID:12091354 PMID:12105990 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12400598 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15177039 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28281318 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28423702 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28492530 PMID:28492532 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687971 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28894253 PMID:28898322 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29101607 PMID:29127364 PMID:29144541 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29486991 PMID:29487225 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29895855 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30833958 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31169336 PMID:31173646 PMID:31173964 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31350202 PMID:31352369 PMID:31360874 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31465090 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31719806 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31874108 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32019284 PMID:32039725 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365829 PMID:32368696 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32810930 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32885271 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:33011440 PMID:33047316 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33206719 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33376610 PMID:33395407 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33479248 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33785725 PMID:33850299 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34250389 PMID:34262154 PMID:34270679 PMID:34284872 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34873480 PMID:34884835 PMID:34994613 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35145552 PMID:35201558 PMID:35260754 PMID:35264596 PMID:35284771 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35483985 PMID:35534218 PMID:35666082 PMID:35716007 PMID:35806449 PMID:35980532 PMID:197781682 PMID:28007901 PMID:19626507 More...
|
RGD:12879399, RGD:10053611 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28947956 More...
|
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
|
|
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
|
|
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
|
|
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:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12400598 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14643952 PMID:14654357 PMID:14695534 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17517479 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19779456 PMID:19781682 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21665297 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24356096 PMID:24405665 PMID:24416720 PMID:24448499 PMID:24506781 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24853695 PMID:24920063 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25793145 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26098866 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26380989 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27067391 PMID:27083775 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28259476 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28508083 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29163336 PMID:29263802 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29888287 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30413523 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30697212 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31407689 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32365829 PMID:32427313 PMID:32471518 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:33011440 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33280026 PMID:33309985 PMID:33376610 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33509806 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33850299 PMID:33919281 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34262154 PMID:34270679 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34873480 PMID:35039564 PMID:35201558 PMID:35260754 PMID:35264596 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35806449 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Casp1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp4 |
caspase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:12612651 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Ccdc82 |
coiled-coil domain containing 82 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
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G |
Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cep57 |
centrosomal protein 57 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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G |
Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Cntn5 |
contactin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Cul5 |
cullin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwc15 |
CWC15 spliceosome-associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Ddi1 |
DNA-damage inducible 1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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G |
Ddx10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Elmod1 |
ELMO domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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G |
Endod1 |
endonuclease domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892
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G |
Exph5 |
exophilin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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G |
Fam76b |
family with sequence similarity 76, member B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
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G |
Fdx1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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G |
Fut4 |
fucosyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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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
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
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G |
Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
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G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
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G |
Kdm4d |
lysine demethylase 4D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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G |
Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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G |
LOC100125362 |
hypothetical protein LOC100125362 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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G |
Mir34b |
microRNA 34b |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
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G |
Mtmr2 |
myotubularin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Npat |
nuclear protein, co-activator of histone transcription |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 |
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NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
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G |
Pdgfd |
platelet derived growth factor D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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G |
Rab39a |
RAB39A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Sesn3 |
sestrin 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
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G |
Sik2 |
salt-inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc35f2 |
solute carrier family 35, member F2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Sln |
sarcolipin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
Tmem123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder |
CTD ClinVar |
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18854157 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32427313 PMID:32449991 PMID:32566746 PMID:32658311 PMID:32832836 PMID:33471991 PMID:33479248 PMID:33956305 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Aptx |
aprataxin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) |
OMIM ClinVar RGD |
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 PMID:21465257 PMID:17572444 PMID:12196655 More...
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RGD:10054301, RGD:10054300, RGD:1599207 |
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ClinVar |
PMID:32488064 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Aptx |
aprataxin |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
OMIM ClinVar |
PMID:9536098 PMID:14770181 PMID:15732101 PMID:17159128 PMID:17576681 PMID:17720498 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25525159 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28245518 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29482223 PMID:29650794 PMID:30198223 PMID:30564185 PMID:31589614 PMID:31692161 PMID:31957062 PMID:32253937 PMID:32397312 PMID:32409511 More...
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32347949 PMID:33654647 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET |
OMIM ClinVar |
PMID:33783914 |
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NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30460542 |
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 |
OMIM ClinVar |
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16199547 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:19732584 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28849312 PMID:29170652 PMID:29348823 PMID:29922827 PMID:30613976 PMID:31033087 PMID:31159747 PMID:32039725 PMID:32449991 PMID:32566746 PMID:32658311 PMID:32832836 PMID:33471991 PMID:33956305 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 |
OMIM ClinVar |
PMID:24911150 PMID:25741868 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26467025 PMID:27066557 PMID:28492532 PMID:30031633 PMID:30504930 More...
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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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
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Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:28492532 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Itgbl1 |
integrin subunit beta like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:19423733 PMID:20437544 PMID:21367767 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28659154 PMID:28660440 PMID:29186133 PMID:29232918 PMID:29758065 PMID:29925855 PMID:30564305 PMID:30778698 More...
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NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Kif26b |
kinesin family member 26B |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:29053796 |
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NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
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Mtcl1 |
microtubule crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:23902687 PMID:25741868 |
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NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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Pdyn |
prodynorphin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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Tgm6 |
transglutaminase 6 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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Ttbk2 |
tau tubulin kinase 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30165906 More...
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 |
OMIM ClinVar |
PMID:17190954 PMID:18414213 PMID:21115467 PMID:25741868 PMID:25882839 PMID:28492532 PMID:31636353 PMID:32943585 More...
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NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 PMID:25664551 PMID:25741868 PMID:26467025 PMID:27045840 PMID:27142713 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 More...
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NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:18414213 PMID:22036850 PMID:24164873 PMID:25741868 PMID:26467025 PMID:26640698 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30548255 PMID:30968303 PMID:31621627 PMID:32337771 PMID:32637629 More...
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Prdx3 |
peroxiredoxin 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Septin11 |
septin 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:31673878 |
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NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 PMID:25843669 PMID:26467025 PMID:27086870 PMID:27782104 PMID:28492532 PMID:31103315 More...
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NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
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NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 |
OMIM ClinVar |
PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25425649 PMID:25664549 PMID:25664551 PMID:25730773 PMID:25741868 PMID:25976027 PMID:26467025 PMID:27045840 PMID:27091155 PMID:27142713 PMID:27270446 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:31477691 PMID:33223419 PMID:34906502 More...
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NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Syt14 |
synaptotagmin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 |
OMIM ClinVar |
PMID:21835308 PMID:25741868 PMID:26467025 |
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NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 |
ClinVar |
PMID:24369382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:32214227 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY |
OMIM ClinVar |
PMID:9536098 PMID:11572989 PMID:17470496 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29675105 PMID:29808465 PMID:29905011 PMID:30853297 PMID:32214227 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 |
OMIM ClinVar |
PMID:19146831 PMID:19924463 PMID:22448230 PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:28492532 PMID:31319223 More...
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 |
OMIM ClinVar |
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29196973 PMID:29590070 More...
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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Rubcn |
rubicon autophagy regulator |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 |
OMIM ClinVar |
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 PMID:32450808 More...
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NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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Jmjd8 |
jumonji domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 |
ClinVar |
PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 PMID:31571321 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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Stub1 |
STIP1 homology and U-box containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 |
OMIM ClinVar |
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 PMID:25741868 PMID:28492532 PMID:31571321 PMID:33417001 More...
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NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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Cwf19l1 |
CWF19 like cell cycle control factor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 |
OMIM ClinVar |
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 PMID:26197978 PMID:27016154 PMID:28492532 More...
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NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961
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Grid2 |
glutamate ionotropic receptor delta type subunit 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 |
OMIM ClinVar |
PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 |
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NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
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Slc9a1 |
solute carrier family 9 member A1 |
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ISO |
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome |
OMIM ClinVar |
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 |
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NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 |
OMIM ClinVar |
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 |
ClinVar |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Snx14 |
sorting nexin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 |
OMIM ClinVar |
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 |
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NCBI chr 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
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Scyl1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29419818 PMID:32860008 |
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NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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Vwa3b |
von Willebrand factor A domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 |
OMIM ClinVar |
PMID:25741868 PMID:26157035 |
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NCBI chr 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611
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Tdp2 |
tyrosyl-DNA phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency |
OMIM ClinVar |
PMID:24658003 PMID:25741868 PMID:30109272 |
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NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
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Uba5 |
ubiquitin-like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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Atg5 |
autophagy related 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 |
ClinVar OMIM |
PMID:15981765 PMID:26812546 |
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NCBI chr20:47,798,222...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 |
OMIM ClinVar |
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 PMID:22188361 PMID:22761669 PMID:22992668 PMID:24224851 PMID:24446315 PMID:25025378 PMID:25232828 PMID:25741868 PMID:27248474 PMID:27636246 PMID:28002403 PMID:28422153 PMID:28743242 PMID:29662106 More...
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NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Gdap2 |
ganglioside-induced differentiation-associated-protein 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 |
OMIM ClinVar |
PMID:25741868 PMID:30084953 |
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NCBI chr 2:187,528,514...187,585,270
Ensembl chr 2:187,528,513...187,585,270
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Thg1l |
tRNA-histidine guanylyltransferase 1-like |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 |
OMIM ClinVar |
PMID:1168944 PMID:25741868 PMID:27307223 |
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NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
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Vps41 |
VPS41 subunit of HOPS complex |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 |
OMIM ClinVar |
PMID:32808683 PMID:33764426 PMID:33851776 |
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NCBI chr17:46,063,124...46,227,582
Ensembl chr17:46,063,124...46,227,791
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Pitrm1 |
pitrilysin metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 |
OMIM ClinVar |
PMID:26697887 PMID:29383861 PMID:29764912 |
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NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
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Atg7 |
autophagy related 7 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 |
OMIM ClinVar |
PMID:34161705 |
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NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Prdx3 |
peroxiredoxin 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 |
OMIM ClinVar |
PMID:25741868 PMID:33889951 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
OMIM ClinVar |
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 PMID:34906502 More...
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NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Tpp1 |
tripeptidyl peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 |
OMIM ClinVar |
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:11339651 PMID:12376936 PMID:15520412 PMID:16199547 PMID:17576681 PMID:18684116 PMID:20340139 PMID:21990111 PMID:22612257 PMID:22752289 PMID:23266810 PMID:23418007 PMID:23539563 PMID:25356970 PMID:25741868 PMID:26224725 PMID:26467025 PMID:28335910 PMID:28492532 PMID:30771299 PMID:31283065 PMID:31489614 PMID:32329550 PMID:32855042 PMID:34126256 More...
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NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Fbxo5 |
F-box protein 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,196,068...42,202,437
Ensembl chr 1:42,196,068...42,202,437
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Mtrf1l |
mitochondrial translation release factor 1 like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:42,210,583...42,220,836
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Myct1 |
myc target 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:42,018,137...42,029,410
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Rgs17 |
regulator of G-protein signaling 17 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609
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Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 DNA:mutations:multiple: |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 PMID:19944109 PMID:21572417 PMID:21701589 PMID:22162184 PMID:22287014 PMID:23325900 PMID:23352163 PMID:23959263 PMID:24033266 PMID:24123366 PMID:24123876 PMID:24319099 PMID:24366360 PMID:24388756 PMID:24838835 PMID:24892279 PMID:25091525 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25640679 PMID:25741868 PMID:25843669 PMID:25976027 PMID:26302956 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27060904 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:27378695 PMID:27782104 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28687974 PMID:28750076 PMID:28798025 PMID:29389947 PMID:29482223 PMID:29625556 PMID:29961767 PMID:30029642 PMID:30119932 PMID:30275942 PMID:30487145 PMID:30564623 PMID:30573412 PMID:30610203 PMID:31103315 PMID:31230720 PMID:31692161 PMID:32038460 PMID:32348865 PMID:32488064 PMID:32870032 PMID:34368859 PMID:27086870 More...
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RGD:13209001 |
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Vip |
vasoactive intestinal peptide |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Coa7 |
cytochrome c oxidase assembly factor 7 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
OMIM ClinVar |
PMID:25741868 PMID:27683825 PMID:29718187 PMID:30885959 |
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NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199
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Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
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 |
OMIM ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17722006 PMID:18222991 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:26206283 PMID:26385429 PMID:26467025 PMID:27290639 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30293569 PMID:30972688 PMID:31782039 PMID:32040484 PMID:32202296 PMID:32371413 PMID:33546218 PMID:33841295 PMID:34242285 PMID:34426522 PMID:34732400 More...
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:33141049 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
OMIM ClinVar RGD |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28492532 PMID:28637637 PMID:28708303 PMID:29305691 PMID:30071271 PMID:30657467 PMID:32581362 PMID:34008892 PMID:34342181 PMID:35047275 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Crat |
carnitine O-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY |
ClinVar |
PMID:28492532 PMID:31448845 |
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NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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Atcay |
ATCAY kinesin light chain interacting caytaxin |
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ISO |
ClinVar Annotator: match by term: Cayman type cerebellar ataxia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29449188 |
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NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
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Ahnak2 |
AHNAK nucleoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Dysmetria |
ClinVar |
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NCBI chr 6:131,830,668...131,876,311
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Atcay |
ATCAY kinesin light chain interacting caytaxin |
susceptibility |
ISO |
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RGD |
PMID:14556008 |
RGD:1599348 |
NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663
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Atg4d |
autophagy related 4D, cysteine peptidase |
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ISO |
Neurodegenerative vacuolar storage disease |
OMIA |
PMID:25875846 PMID:28583040 PMID:33016245 |
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NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:29909963 PMID:31050087 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
Ataxia, cerebellar, ATP1B2-related |
OMIA |
PMID:28620085 |
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NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9887333 PMID:25741868 PMID:28492532 PMID:29909963 |
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISS ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
MouseDO ClinVar |
PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28492532 PMID:31719132 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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G |
Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:32581362 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
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G |
Clcn2 |
chloride voltage-gated channel 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Csmd1 |
CUB and Sushi multiple domains 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:28492532 PMID:35351988 |
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NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: Dysmetria |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25741868 PMID:28492532 PMID:33977142 PMID:35379322 More...
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 PMID:18717720 PMID:20193560 PMID:23384994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28768847 More...
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 |
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NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:33242881 |
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NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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G |
Kif1c |
kinesin family member 1C |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:32581362 |
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NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Klc2 |
kinesin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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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
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G |
Lrch2 |
leucine rich repeats and calponin homology domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:35351988 |
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NCBI chr X:111,091,728...111,174,225
Ensembl chr X:111,092,814...111,174,210
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 PMID:18316077 PMID:19812251 PMID:20008656 PMID:21508331 PMID:22492563 PMID:24126688 PMID:24957169 PMID:25741868 PMID:26467025 PMID:26801520 PMID:27100445 PMID:28492532 PMID:28660751 PMID:29898954 More...
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mlc1 |
modulator of VRAC current 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:16652334 PMID:23079554 PMID:23851226 PMID:25741868 |
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NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:24088041 PMID:24986921 PMID:25741868 PMID:26633545 PMID:32313153 PMID:32581362 PMID:32906214 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Ncdn |
neurochondrin |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:33711248 |
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NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
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G |
Nop56 |
NOP56 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
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G |
Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10602363 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24033266 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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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
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 |
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NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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G |
Rab24 |
RAB24, member RAS oncogene family |
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ISO |
Ataxia, cerebellar, juvenile to adolescent, RAB24-related |
OMIA |
PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 PMID:24516392 More...
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NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
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G |
Rfc1 |
replication factor C subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926972 |
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NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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G |
Rpgrip1l |
Rpgrip1-like |
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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
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G |
Rpl27a |
ribosomal protein L27A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21674502 |
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NCBI chr 1:163,539,732...163,542,771
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G |
Satb2 |
SATB homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia |
CTD ClinVar |
PMID:16236810 PMID:25741868 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Sel1l |
SEL1L adaptor subunit of ERAD E3 ubiquitin ligase |
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ISO |
Ataxia, cerebellar, progressive early-onset, SEL1L-related |
OMIA |
PMID:22719266 |
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NCBI chr 6:110,735,450...110,779,695
Ensembl chr 6:110,735,450...110,779,648
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G |
Sepsecs |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 |
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NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:26467025 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Snx14 |
sorting nexin 14 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia |
CTD ClinVar |
PMID:25848753 |
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NCBI chr 8:89,283,673...89,390,597
Ensembl chr 8:89,298,114...89,390,580
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G |
Spart |
spartin |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
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G |
Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:24033266 PMID:25533962 PMID:25741868 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:22488715 PMID:25741868 |
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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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
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
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G |
Tdp2 |
tyrosyl-DNA phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
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G |
Tln1 |
talin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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G |
Zfp236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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G |
Clcn1 |
chloride voltage-gated channel 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:7874130 PMID:8533761 PMID:10690989 PMID:16770776 PMID:17654559 PMID:17932099 PMID:18337730 PMID:21221019 PMID:21698652 PMID:22094069 PMID:22109722 PMID:22407275 PMID:22521272 PMID:22641783 PMID:23113340 PMID:23739125 PMID:23933576 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27199537 PMID:27266866 PMID:27614575 PMID:28492532 PMID:28993909 PMID:32117024 PMID:32670189 PMID:34106991 More...
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NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33233646 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Trpc3 |
transient receptor potential cation channel, subfamily C, member 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 |
OMIM ClinVar |
PMID:25477146 PMID:25741868 |
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NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 |
OMIM ClinVar |
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 PMID:29629410 PMID:29878067 PMID:32736238 PMID:32860008 PMID:32878331 More...
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NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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G |
Mme |
membrane metallo-endopeptidase |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 43 |
OMIM ClinVar |
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27583304 PMID:27588448 PMID:28492532 PMID:30415211 PMID:33144514 More...
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NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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G |
Pum1 |
pumilio RNA-binding family member 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 47 |
OMIM ClinVar |
PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 |
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NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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G |
Jmjd8 |
jumonji domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
ClinVar |
PMID:24719489 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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Stub1 |
STIP1 homology and U-box containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
OMIM ClinVar |
PMID:24719489 PMID:25258038 PMID:25741868 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
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NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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Exosc5 |
exosome component 5 |
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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 |
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NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Atp8a2 |
ATPase phospholipid transporting 8A2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dysequilibrium syndrome |
CTD ClinVar |
PMID:25741868 |
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NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
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Car8 |
carbonic anhydrase 8 |
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ISS |
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 |
MouseDO |
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NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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G |
Vldlr |
very low density lipoprotein receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome |
CTD ClinVar |
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22700954 PMID:22973972 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Vldlr |
very low density lipoprotein receptor |
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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:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22700954 PMID:22973972 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
OMIM ClinVar |
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 PMID:28969387 More...
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Car8 |
carbonic anhydrase 8 |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 |
OMIM ClinVar |
PMID:19461874 PMID:21937992 PMID:25741868 |
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NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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Atp8a2 |
ATPase phospholipid transporting 8A2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
OMIM ClinVar |
PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 PMID:31397519 PMID:31612321 More...
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NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
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Elf2 |
E74 like ETS transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
ClinVar |
PMID:29628936 |
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NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
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Rfc1 |
replication factor C subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome DNA:repeat:intron: DNA:repeat:intron: |
OMIM ClinVar RGD |
PMID:25741868 PMID:32040566 PMID:30926972 |
RGD:41404728, RGD:41404727 |
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM ClinVar |
PMID:25561519 PMID:25741868 PMID:28492532 |
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NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:25741868 PMID:28492532 PMID:29111009 |
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ankfy1 |
ankyrin repeat and FYVE domain containing 1 |
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ISS |
OMIM:270550 |
MouseDO |
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NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
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Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia |
OMIM ClinVar |
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16198375 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22307627 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29968200 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31429931 PMID:31475473 PMID:31637422 PMID:31673878 PMID:32140197 PMID:32488064 PMID:32606552 PMID:33624863 PMID:33746006 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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Slc44a1 |
solute carrier family 44 member 1 |
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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 |
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NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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G |
Hivep2 |
HIVEP zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
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NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:24123876 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:32581362 PMID:32776513 PMID:32860008 More...
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NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with ocular defect |
ClinVar |
PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: COACH syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Tmem67 |
transmembrane protein 67 |
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ISO |
DNA:missense mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19058225 PMID:19574260 |
RGD:11535944, RGD:11535946 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:18414213 PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26729329 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 PMID:29620724 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
ClinVar |
PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 1 |
OMIM ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:29974258 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 2 |
OMIM ClinVar |
PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:32488064 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: COACH syndrome 3 |
OMIM ClinVar |
PMID:17558409 PMID:19574260 PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Coq2 |
coenzyme Q2, polyprenyltransferase |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:23758206 PMID:24988567 PMID:25349199 PMID:25525159 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 PMID:30613928 More...
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NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Coq9 |
coenzyme Q9 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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G |
Pdss1 |
decaprenyl diphosphate synthase subunit 1 |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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G |
Dnajc3 |
DnaJ heat shock protein family (Hsp40) member C3 |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
OMIM ClinVar |
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 |
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NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
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G |
Dnajc6 |
DnaJ heat shock protein family (Hsp40) member C6 |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 |
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NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
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G |
Mafa |
MAF bZIP transcription factor A |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:25741868 |
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NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690
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G |
Frmd4a |
FERM domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia |
OMIM ClinVar |
PMID:25388005 PMID:25741868 PMID:28492532 |
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NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar |
PMID:28492532 |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar RGD |
PMID:10762541 |
RGD:734674 |
NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
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G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar |
PMID:12037327 PMID:20956790 PMID:25326637 PMID:26993267 PMID:27353043 |
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Slc1a3 |
solute carrier family 1 member 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar |
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NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Hereditary episodic ataxia |
ClinVar |
PMID:32581362 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Akap3 |
A-kinase anchoring protein 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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G |
Ano2 |
anoctamin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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G |
Dyrk4 |
dual specificity tyrosine phosphorylation regulated kinase 4 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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G |
Fgf6 |
fibroblast growth factor 6 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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G |
Galnt8 |
polypeptide N-acetylgalactosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,626,438...159,650,327
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G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
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ISO IAGP |
ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY |
OMIM ClinVar RGD |
PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 PMID:10355668 PMID:11013453 PMID:11026449 PMID:11746627 PMID:12408867 PMID:15127317 PMID:15979945 PMID:16511644 PMID:17114047 PMID:19307729 PMID:19528245 PMID:19779067 PMID:20301785 PMID:21307345 PMID:22609616 PMID:23349320 PMID:25659636 PMID:25741868 PMID:26395884 PMID:26467025 PMID:26778656 PMID:27864847 PMID:28216637 PMID:28492532 PMID:29056246 PMID:29375859 PMID:30055040 PMID:32705822 PMID:34305802 PMID:22206926 More...
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RGD:10047237 |
NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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G |
Kcna1Adms |
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures |
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IAGP |
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RGD |
PMID:22206926 |
RGD:10047237 |
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G |
Kcna5 |
potassium voltage-gated channel subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
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G |
Ntf3 |
neurotrophin 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Rad51ap1 |
RAD51 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,759,454...159,772,524
Ensembl chr 4:159,759,459...159,772,524
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G |
RGD1311164 |
similar to DNA segment, Chr 6, Wayne State University 163, expressed |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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G |
Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 PMID:9345107 PMID:9488686 PMID:9536098 PMID:9600739 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10408534 PMID:10699052 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11179022 PMID:11370629 PMID:11409427 PMID:11439943 PMID:11564488 PMID:11723274 PMID:11742003 PMID:11809294 PMID:11814735 PMID:11854167 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12235360 PMID:12420090 PMID:12707077 PMID:12756131 PMID:14530926 PMID:14592859 PMID:14694040 PMID:14718690 PMID:15003170 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15483044 PMID:15622542 PMID:15795222 PMID:15985579 PMID:16043807 PMID:16199547 PMID:16306128 PMID:16325861 PMID:16508934 PMID:16583725 PMID:16602100 PMID:16787562 PMID:16866717 PMID:17119788 PMID:17142831 PMID:17292920 PMID:17495624 PMID:17576681 PMID:17588611 PMID:18056581 PMID:18313928 PMID:18354422 PMID:18434528 PMID:18513263 PMID:18541804 PMID:18597946 PMID:18606230 PMID:18644040 PMID:18940563 PMID:19232643 PMID:19344873 PMID:19484318 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:19633872 PMID:19811514 PMID:19864665 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301562 PMID:20301674 PMID:20396531 PMID:20663518 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21431381 PMID:21454563 PMID:21703448 PMID:21734179 PMID:21927611 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22942164 PMID:22969264 PMID:23038654 PMID:23071170 PMID:23103419 PMID:23183922 PMID:23344743 PMID:23397224 PMID:23407676 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24091540 PMID:24108129 PMID:24270521 PMID:24420976 PMID:24445160 PMID:24486772 PMID:24498617 PMID:24658662 PMID:24664531 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25274781 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25481746 PMID:25525159 PMID:25596066 PMID:25640679 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25819952 PMID:25851414 PMID:25969684 PMID:26423924 PMID:26467025 PMID:26633542 PMID:26716990 PMID:26795593 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27165006 PMID:27250579 PMID:27290639 PMID:27400454 PMID:27476654 PMID:27667184 PMID:27871455 PMID:27959697 PMID:28007337 PMID:28166811 PMID:28169007 PMID:28431595 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29186148 PMID:29276004 PMID:29343472 PMID:29389947 PMID:29444203 PMID:29482223 PMID:29883219 PMID:29908077 PMID:29915382 PMID:29924869 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30185235 PMID:30283815 PMID:30692599 PMID:30755392 PMID:30891074 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31288946 PMID:31468518 PMID:31487502 PMID:31618753 PMID:31719132 PMID:32116539 PMID:32238909 PMID:32581362 PMID:32910250 PMID:33233562 PMID:33278787 PMID:33349592 PMID:33425808 PMID:34436362 PMID:35401678 PMID:35600082 PMID:35837781 PMID:97053792 PMID:14530926 More...
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RGD:1358446 |
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 |