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G |
Ahnak2 |
AHNAK nucleoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Dysmetria |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:131,830,668...131,876,311
Ensembl chr 6:131,831,454...131,854,463
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G |
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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G |
Atg4d |
autophagy related 4D, cysteine peptidase |
|
ISO |
Neurodegenerative vacuolar storage disease |
OMIA |
PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 PMID:38003185 PMID:38920354 More...
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NCBI chr 8:28,083,902...28,093,491
Ensembl chr 8:19,807,766...19,817,321
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28488180 PMID:28492532 PMID:29909963 PMID:31050087 More...
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
|
ISO |
Ataxia, cerebellar, ATP1B2-related |
OMIA |
PMID:28620085 PMID:37341581 PMID:38003185 |
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NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:29909963 More...
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NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISS ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
MouseDO ClinVar |
PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27066515 PMID:27250579 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31440721 PMID:31719132 PMID:35401678 PMID:37091313 More...
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NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
|
NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752
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G |
Caprin1 |
cell cycle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:36136249 |
|
NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:90,153,620...90,230,502
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:32581362 |
|
NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248
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G |
Cers1 |
ceramide synthase 1 |
treatment |
ISO |
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RGD |
PMID:21625621 |
RGD:156431058 |
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 |
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NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
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G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
|
NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657
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G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:25741868 |
|
NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431
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G |
Csmd1 |
CUB and Sushi multiple domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35351988 |
|
NCBI chr16:78,920,549...80,520,710
Ensembl chr16:72,218,503...73,817,614
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Dysmetria |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
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NCBI chr13:75,842,078...75,870,319
Ensembl chr13:73,308,726...73,336,934
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 |
|
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
|
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NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
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G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 PMID:18717720 PMID:20193560 PMID:23384994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28768847 More...
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NCBI chr X:70,541,845...70,549,776
Ensembl chr X:66,501,820...66,509,925
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:36675067 |
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NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
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NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
|
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NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:159,542,615...159,576,189
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 |
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NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:33242881 PMID:36746441 |
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NCBI chr18:40,004,693...40,445,043
Ensembl chr18:37,817,957...38,258,347
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G |
Kif1c |
kinesin family member 1C |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29286531 |
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NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr X:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
DNA:mutation:cds:c.241A4G(p.K81E)(human) |
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chr 6:93,900,427...93,941,534
Ensembl chr 6:88,164,440...88,205,578
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G |
Lrch2 |
leucine rich repeats and calponin homology domain containing 2 |
|
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 |
|
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 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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G |
Mlc1 |
modulator of VRAC current 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 PMID:27322623 PMID:28492532 PMID:33084218 More...
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NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:120,046,705...120,067,049
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:24986921 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32581362 PMID:32906214 More...
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Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:7,758...7,961
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 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:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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Ensembl chr MT:11,736...13,565
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Mtcl1 |
microtubule crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:30548255 |
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NCBI chr 9:113,722,138...113,888,413
Ensembl chr 9:106,321,098...106,442,203
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Nop56 |
NOP56 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:117,477,053...117,481,841
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Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:15937921 PMID:16098014 PMID:20301473 PMID:20554533 PMID:23183285 PMID:23427322 PMID:23773996 PMID:23791518 PMID:25236789 PMID:25349751 PMID:25425405 PMID:25741868 PMID:26666848 PMID:26981555 PMID:28492532 PMID:32138288 PMID:32248828 More...
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NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049
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Pde1b |
phosphodiesterase 1B |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:136,505,834...136,533,034
Ensembl chr 7:134,627,322...134,654,580
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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 |
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NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:14,258,145...14,270,303
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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:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11589167 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098
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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 3:29,605,823...29,614,936
Ensembl chr 3:9,207,717...9,216,844
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
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NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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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 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
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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 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581
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Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384
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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 chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398
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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 PMID:37341581 PMID:38003185 More...
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NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553
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Rfc1 |
replication factor C subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926972 |
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NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370
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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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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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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 9:65,842,351...66,028,569
Ensembl chr 9:58,350,246...58,530,707
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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 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292
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Sel1l |
SEL1L adaptor subunit of SYVN1 ubiquitin ligase |
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ISO |
Ataxia, cerebellar, progressive early-onset, SEL1L-related |
OMIA |
PMID:22719266 PMID:37341581 PMID:38003185 |
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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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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 chr14:62,524,287...62,554,529
Ensembl chr14:58,311,499...58,341,740
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:25741868 PMID:26467025 |
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NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803
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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 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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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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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 2:141,442,770...141,469,388
Ensembl chr 2:139,292,355...139,319,248
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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 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532 More...
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NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
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Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 PMID:28492532 PMID:32445240 More...
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NCBI chr 3:30,639,868...30,642,759
Ensembl chr 3:10,241,837...10,263,315
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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 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322
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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 chr20:5,028,226...5,058,519
Ensembl chr20:5,026,364...5,056,672
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Tdp2 |
tyrosyl-DNA phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr17:40,656,969...40,668,362
Ensembl chr17:40,228,947...40,240,313
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Tln1 |
talin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900
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Unc13a |
unc-13 homolog A |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28192369 |
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NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,336,229...18,381,872
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Vps39 |
VPS39 subunit of HOPS complex |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:127,721,076...127,758,658
Ensembl chr 3:107,267,310...107,304,975
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Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26437881 |
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NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296
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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 chr18:78,251,248...78,351,037
Ensembl chr18:75,978,231...76,073,737
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Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350
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Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28296734 PMID:28492532 PMID:28771251 PMID:29625556 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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Fxr1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:116,884,248...116,937,590
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Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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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 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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Acat1 |
acetyl-CoA acetyltransferase 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 8:62,876,003...62,905,080
Ensembl chr 8:53,979,813...54,008,855
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Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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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 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261
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Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
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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 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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Amotl1 |
angiomotin-like 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 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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Ankrd49 |
ankyrin repeat domain 49 |
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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 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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Arhgap20 |
Rho GTPase activating protein 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 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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Arhgap42 |
Rho GTPase activating protein 42 |
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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 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
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Atm |
ATM serine/threonine kinase |
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ISO ISS IMP |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome OMIM:208900 DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD RGD |
PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1739584 PMID:1849795 PMID:1943118 PMID:1953577 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2675381 PMID:2677459 PMID:3149931 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:3638722 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 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:12072552 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:12958068 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 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:16029571 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16622469 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 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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:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26344566 PMID:26380989 PMID:26416026 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26619011 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26658419 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 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PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27994516 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28120234 PMID:28123174 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:28488180 PMID:28492530 PMID:28492532 PMID:28495237 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28617965 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687356 PMID:28687971 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28743247 PMID:28767289 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PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29758562 PMID:29769598 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:29967250 PMID:30062048 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113886 PMID:30124550 PMID:30128536 PMID:30154229 PMID:30159786 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30279689 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30370249 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30425284 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30543347 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:30824826 PMID:30833958 PMID:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31012270 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:31300551 PMID:31317629 PMID:31319225 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:31470354 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31642931 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31704732 PMID:31719806 PMID:31721094 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31788995 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31871297 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:32005694 PMID:32008151 PMID:32012241 PMID:32019284 PMID:32039725 PMID:32052936 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32315455 PMID:32318955 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32368696 PMID:32371905 PMID:32383162 PMID:32383811 PMID:32427313 PMID:32461654 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32548172 PMID:32558426 PMID:32566746 PMID:32581083 PMID:32601921 PMID:32606146 PMID:32624572 PMID:32655291 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32710489 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32761968 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32818697 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32868316 PMID:32875559 PMID:32885271 PMID:32888943 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32962506 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33047316 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33119476 PMID:33120919 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33168809 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33203166 PMID:33206719 PMID:33239428 PMID:33240400 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33359728 PMID:33365035 PMID:33376610 PMID:33383211 PMID:33395407 PMID:33402103 PMID:33415580 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33462019 PMID:33471191 PMID:33471991 PMID:33479248 PMID:33502066 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33742106 PMID:33747920 PMID:33750258 PMID:33779842 PMID:33785725 PMID:33804961 PMID:33850299 PMID:33858029 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34008015 PMID:34009545 PMID:34067464 PMID:34107524 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34283047 PMID:34284872 PMID:34298181 PMID:34299313 PMID:34308104 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34477817 PMID:34477998 PMID:34489640 PMID:34539671 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34659905 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34824606 PMID:34848827 PMID:34873480 PMID:34884835 PMID:34949663 PMID:34954471 PMID:34994613 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35085662 PMID:35098669 PMID:35127508 PMID:35145552 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35220195 PMID:35221880 PMID:35245693 PMID:35257272 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35284771 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35354106 PMID:35365198 PMID:35402282 PMID:35406420 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35483985 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35599270 PMID:35652560 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35717579 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36000185 PMID:36008414 PMID:36029002 PMID:36035419 PMID:36091166 PMID:36099812 PMID:36117189 PMID:36119527 PMID:36132150 PMID:36167400 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36315919 PMID:36329109 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36551643 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36674612 PMID:36685941 PMID:36704080 PMID:36717774 PMID:36790564 PMID:36898365 PMID:36979741 PMID:36988593 PMID:37009283 PMID:37088804 PMID:37091313 PMID:37097610 PMID:37149759 PMID:37239058 PMID:37262986 PMID:37306523 PMID:37331604 PMID:37436117 PMID:37438524 PMID:37445923 PMID:37450374 PMID:37453313 PMID:37529773 PMID:37581139 PMID:37628581 PMID:37712079 PMID:37762649 PMID:38003901 PMID:38017116 PMID:38028594 PMID:38355628 PMID:38509102 PMID:39085400 PMID:197781682 PMID:19626507 PMID:28007901 More...
|
RGD:10053611, RGD:12879399 |
NCBI chr 8:62,724,939...62,829,040
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 chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264
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|
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 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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|
G |
Bik |
BCL2-interacting killer |
susceptibility |
ISO |
DNA:deletion:intron:IVS4-12delTC(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 7:116,552,303...116,571,317
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 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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|
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 8:13,285,702...13,313,329
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 | 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:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28524057 PMID:28947956 PMID:31475041 More...
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|
NCBI chr 4:69,329,772...69,476,931
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 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: Cerebello-oculocutaneous telangiectasia |
ClinVar |
PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 PMID:2557216 PMID:2675381 PMID:3338800 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 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:9450906 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:10234507 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:12072552 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:12935933 PMID:12958068 PMID:12969974 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14706517 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15196260 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16622469 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:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17923702 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:19650357 PMID:19691550 PMID:19763152 PMID:19779456 PMID:19781682 PMID:19823873 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:22109722 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:24549055 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:25085752 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25186949 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:25586381 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25741916 PMID:25742471 PMID:25793145 PMID:25877891 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:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 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:27066513 PMID:27067391 PMID:27083775 PMID:27097373 PMID:27121310 PMID:27142713 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:27692705 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27854218 PMID:27871447 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:28120234 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:28495237 PMID:28503720 PMID:28508083 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28888541 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29081736 PMID:29141312 PMID:29155101 PMID:29163336 PMID:29263802 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29445900 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29785153 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:30113886 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:30541756 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:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31012270 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:31319225 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31422574 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31811167 PMID:31815095 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:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32383811 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32522261 PMID:32548172 PMID:32558426 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32655291 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33119476 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33239428 PMID:33280026 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33376610 PMID:33395407 PMID:33402103 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33471991 PMID:33502066 PMID:33509806 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33804961 PMID:33850299 PMID:33858029 PMID:33919281 PMID:33939675 PMID:34067464 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34284872 PMID:34298181 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34426522 PMID:34445196 PMID:34477998 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34848827 PMID:34873480 PMID:34949663 PMID:34954471 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35127508 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35221880 PMID:35245693 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35354106 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36029002 PMID:36091166 PMID:36099812 PMID:36119527 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36315919 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36704080 PMID:36790564 PMID:36898365 PMID:36988593 PMID:37009283 PMID:37091313 PMID:37262986 PMID:37331604 PMID:37438524 PMID:37445923 PMID:37450374 PMID:37529773 PMID:37581139 PMID:37628581 PMID:38003901 PMID:38017116 PMID:38028594 PMID:38355628 PMID:38509102 PMID:39085400 More...
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|
NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
|
|
G |
C8h11orf87 |
similar to human chromosome 11 open reading frame 87 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383
|
|
G |
Casp12 |
caspase 12 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
G |
Casp4 |
caspase 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,883,817...10,919,978
Ensembl chr 8:2,598,876...2,635,092
|
|
G |
Ccdc82 |
coiled-coil domain containing 82 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:18,509,293...18,665,008
Ensembl chr 8:10,228,430...10,265,963
|
|
G |
Cep126 |
centrosomal protein 126 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
|
|
G |
Cep57 |
centrosomal protein 57 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:18,951,179...18,971,205
Ensembl chr 8:10,669,590...10,689,249
|
|
G |
Cfap300 |
cilia and flagella associated protein 300 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
|
|
G |
Cfap68 |
cilia and flagella associated protein 68 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
|
|
G |
Cntn5 |
contactin 5 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157
|
|
G |
Cul5 |
cullin 5 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:62,909,150...62,974,641
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 Ensembl chr 2:11,305,424...11,316,325
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 8:62,384,876...62,539,585
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 8:59,875,537...59,900,947
Ensembl chr 8:50,978,051...51,004,479 Ensembl chr 1:50,978,051...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 8:4,189,067...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 8:19,490,615...19,520,007
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 |
|
NCBI chr 8:18,971,357...18,993,442
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 |
|
NCBI chr 8:61,164,839...61,183,645
Ensembl chr 8:52,268,536...52,287,414
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,009,818...60,014,625
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 |
|
NCBI chr 8:19,868,178...19,872,139
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 |
|
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 |
|
NCBI chr 8:8,785,212...9,174,322
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 9:99,950,972...100,200,994
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 |
|
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 |
|
NCBI chr 8:51,093,267...51,094,528
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 7:55,789,180...55,793,216
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 2:121,932,968...121,937,672
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 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:18,505,808...18,508,704
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 |
|
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 |
|
NCBI chr 8:19,561,253...19,586,412
Ensembl chr 8:11,268,859...11,305,290
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G |
Layn |
layilin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:18,552,480...18,869,923
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 |
|
NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:19,900,211...19,961,906
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:9,801,921...9,812,529
Ensembl chr 8:1,516,979...1,527,587
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G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia |
ClinVar |
PMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 PMID:28492532 PMID:30267214 More...
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NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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G |
Mtmr2 |
myotubularin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:18,899,303...18,949,767
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Npat |
nuclear protein, co-activator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 |
|
NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
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G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:19,817,985...19,861,327
Ensembl chr 8:11,536,520...11,579,761
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,504,292...60,544,996
Ensembl chr 8:51,607,763...51,648,628
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:51,186,717...51,228,485
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G |
Rab39a |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,088,246...54,105,867
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:52,379,494...52,437,678
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
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G |
Sesn3 |
sestrin 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:19,415,307...19,470,943
Ensembl chr 8:11,133,678...11,185,842
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G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc35f2 |
solute carrier family 35, member F2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Sln |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:63,117,577...63,144,290
Ensembl chr 8:54,243,542...54,247,791
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:50,954,342...50,955,729
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G |
Tmem123 |
transmembrane protein 123 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,922,077...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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|
G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:14,044,216...14,148,808
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 8:13,380,551...13,451,640
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 8:61,340,446...61,404,932
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:2433832 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:19732584 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22406018 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:28699156 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32283892 PMID:32295625 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33326660 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35273153 PMID:35495172 PMID:35534704 PMID:36035419 PMID:36050397 PMID:36091175 PMID:36113475 PMID:37013556 More...
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NCBI chr 8:19,900,211...19,961,906
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 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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G |
Aptx |
aprataxin |
susceptibility |
ISO |
ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) |
OMIM ClinVar CTD RGD |
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 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:30609409 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 5:60,593,338...60,618,946
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: Early-onset cerebellar ataxia with hypoalbuminemia |
ClinVar |
PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31041400 PMID:31167812 PMID:32504494 PMID:35426160 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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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 3:32,825,771...32,878,740
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 | ClinVar Annotator: match by term: PIK3R5-related condition |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 |
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NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23833122 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:32056211 PMID:32123317 PMID:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:34697416 PMID:35354845 PMID:37301908 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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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant |
ClinVar |
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15054841 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19650357 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 PMID:21778326 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:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28126470 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35534218 PMID:35710434 PMID:35716007 More...
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant |
ClinVar |
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19650357 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 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:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 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:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35710434 More...
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NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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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-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition |
OMIM ClinVar |
PMID:2433832 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:15574463 PMID:16199547 PMID:16858402 PMID:17576681 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: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:27124789 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:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32283892 PMID:32295625 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33326660 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35273153 PMID:35495172 PMID:35534704 PMID:36035419 PMID:36091175 PMID:36113475 More...
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NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 | ClinVar Annotator: match by term: PCNA-related condition |
OMIM ClinVar |
PMID:24911150 PMID:25741868 PMID:28492532 |
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NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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G |
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 chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110
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G |
Dagla |
diacylglycerol lipase, alpha |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:206,890,638...206,947,232
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 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 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:28492532 PMID:35401678 |
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NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:26489027 PMID:28492532 |
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NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
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G |
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 chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 PMID:25741868 PMID:26467025 PMID:27108797 PMID:27908616 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28660440 PMID:29186133 PMID:29232918 PMID:29758065 PMID:29925855 PMID:30564305 PMID:30778698 More...
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NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G |
Kif26b |
kinesin family member 26B |
|
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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G |
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 9:113,722,138...113,888,413
Ensembl chr 9:106,321,098...106,442,203
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109
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G |
Pdyn |
prodynorphin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334
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G |
Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384
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G |
Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283
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G |
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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G |
Ttbk2 |
tau tubulin kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM CTD ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
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NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
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G |
Ano10 |
anoctamin 10 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 PMID:25664551 PMID:25741868 PMID:26467025 PMID:27045840 PMID:27142713 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:30838263 More...
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NCBI chr 8:130,719,177...130,838,243
Ensembl chr 8:121,841,665...121,962,670
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G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 |
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NCBI chr13:94,436,680...94,465,535
Ensembl chr13:91,904,739...91,931,431
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G |
Prdx3 |
peroxiredoxin 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:35792670 |
|
NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111
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G |
Septin11 |
septin 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:31673878 |
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NCBI chr14:15,119,760...15,275,222
Ensembl chr14:14,844,580...14,990,853
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G |
Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:211,432,373...211,473,016
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:25741868 PMID:25843669 PMID:26467025 PMID:27086870 PMID:27782104 PMID:28492532 PMID:31103315 More...
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NCBI chr 1:43,917,640...44,388,802
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 6:124,892,821...124,960,646
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:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:29458409 PMID:30770810 PMID:30799093 PMID:31852434 PMID:32619254 PMID:33095980 PMID:35011763 PMID:35286480 PMID:35982159 PMID:37302426 More...
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NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802
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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 |
ClinVar |
PMID:25741868 |
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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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Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: ANO10-related condition | ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 |
OMIM ClinVar |
PMID:16199547 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:30515630 PMID:30838263 PMID:31477691 PMID:32620747 PMID:32816195 PMID:33223419 PMID:33624863 PMID:34234304 PMID:34445196 PMID:34906502 More...
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NCBI chr 8:130,719,177...130,838,243
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 | ClinVar Annotator: match by term: SYT14-related condition |
OMIM ClinVar |
PMID:21835308 PMID:25741868 PMID:26467025 PMID:28492532 |
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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:27959697 PMID:28492532 PMID:29358611 PMID:32214227 More...
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NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365
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Wwox |
WW domain-containing oxidoreductase |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY OMIM:614322 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27717089 PMID:27884173 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30853297 PMID:31216405 PMID:32214227 PMID:35573960 More...
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NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391
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Grm1 |
glutamate metabotropic receptor 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition OMIM:614831 |
OMIM ClinVar MouseDO |
PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:28492532 PMID:31319223 More...
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NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170
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Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:74,748,272...74,777,611
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 recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1 | ClinVar Annotator: match by term: SPTBN2-related condition |
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 1:211,432,373...211,473,016
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 | ClinVar Annotator: match by term: RUBCN-related condition |
OMIM ClinVar |
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 PMID:32450808 More...
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NCBI chr11:81,420,261...81,469,415
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:28396517 PMID:28492532 PMID:31571321 PMID:33417001 PMID:34070858 PMID:34565360 More...
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NCBI chr10:15,353,460...15,356,392
Ensembl chr10:14,848,980...14,851,879
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Rhbdl1 |
rhomboid like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,359,027...15,362,530
Ensembl chr10:14,854,514...14,857,430
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Stub1 |
STIP1 homology and U-box containing protein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM:615768 |
OMIM ClinVar MouseDO |
PMID:10330192 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 PMID:25741868 PMID:28193272 PMID:28193273 PMID:28396517 PMID:28444220 PMID:28492532 PMID:29317501 PMID:29915382 PMID:31571321 PMID:32367277 PMID:32713943 PMID:33097556 PMID:33200713 PMID:33417001 PMID:34070858 PMID:34234304 PMID:34565360 PMID:34663476 PMID:36422518 More...
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NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046
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Wdr24 |
WD repeat domain 24 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,346,835...15,353,384
Ensembl chr10:14,843,728...14,848,864
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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 | ClinVar Annotator: match by term: CWF19L1-related condition |
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 1:252,946,934...252,970,194
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 ISS |
OMIM:616204 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 |
OMIM MouseDO ClinVar |
PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 |
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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 | ClinVar Annotator: match by term: SLC9A1-related condition |
OMIM ClinVar |
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 |
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NCBI chr 5:150,859,412...150,913,525
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 | ClinVar Annotator: match by term: PMPCA-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 PMID:32369273 More...
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NCBI chr 3:29,605,823...29,614,936
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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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 | ClinVar Annotator: match by term: SNX14-related condition |
OMIM ClinVar |
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 PMID:28492532 PMID:31687339 PMID:34691693 More...
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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 | ClinVar Annotator: match by term: SCYL1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26581903 PMID:28492532 PMID:29419818 PMID:30531813 PMID:32146038 PMID:32860008 More...
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NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533
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Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636
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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 | ClinVar Annotator: match by term: VWA3B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26157035 PMID:28492532 |
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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: Spinocerebellar ataxia, autosomal recessive 23 | ClinVar Annotator: match by term: TDP2-related condition |
OMIM ClinVar |
PMID:24658003 PMID:25741868 PMID:28492532 PMID:30109272 |
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NCBI chr17:40,656,969...40,668,362
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 8:113,544,037...113,559,711
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: ATG5-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 |
OMIM ClinVar |
PMID:15981765 PMID:26812546 PMID:28492532 |
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NCBI chr20:49,380,835...49,471,826
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 | ClinVar Annotator: match by term: XRCC1-related condition |
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:28492532 PMID:28743242 PMID:29472272 PMID:29662106 More...
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NCBI chr 1:89,268,721...89,296,619
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: GDAP2-related condition | 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:214071 PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 |
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NCBI chr10:30,889,259...30,897,903
Ensembl chr10:30,387,940...30,396,687
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Asns |
asparagine synthetase (glutamine-hydrolyzing) |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 |
ClinVar |
PMID:25741868 PMID:27711071 PMID:28492532 PMID:29405484 PMID:36374791 |
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NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423
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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:25741868 PMID:32808683 PMID:33764426 PMID:33851776 |
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NCBI chr17:50,758,732...50,923,129
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: PITRM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 |
OMIM ClinVar |
PMID:25741868 PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 |
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NCBI chr17:63,795,670...63,827,317
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: ATG7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34161705 PMID:35405176 |
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NCBI chr 4:149,390,000...149,597,534
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 PMID:35766882 PMID:35792670 |
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NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:260,001,637...260,014,111
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Rnu12 |
RNA, U12 small nuclear |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 |
OMIM ClinVar |
PMID:27863452 |
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NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
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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 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19461874 PMID:21812104 PMID:21937992 PMID:25741868 PMID:31693170 PMID:32808436 More...
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NCBI chr 5:26,102,767...26,199,819
Ensembl chr 5:21,305,383...21,402,374
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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 | ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4 | ClinVar Annotator: match by term: VPS13D-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 PMID:30949922 PMID:31680123 PMID:34906502 PMID:35151251 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 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: TPP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 PMID:11017954 PMID:11071145 PMID:11339651 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12796825 PMID:12950156 PMID:15317752 PMID:15520412 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:21990111 PMID:22245569 PMID:22612257 PMID:22752289 PMID:23266810 PMID:23418007 PMID:23539563 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26795593 PMID:27407112 PMID:27553520 PMID:28335910 PMID:28464005 PMID:28492532 PMID:29631617 PMID:29655203 PMID:29687370 PMID:30119717 PMID:30771299 PMID:31122803 PMID:31283065 PMID:31489614 PMID:32329550 PMID:32412666 PMID:32855042 PMID:34126256 PMID:36403551 More...
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NCBI chr 1:169,509,816...169,515,939
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:27782104 PMID:28492532 |
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NCBI chr 1:43,511,685...43,904,454
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:19542096 PMID:24319099 PMID:27086870 PMID:28492532 |
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NCBI chr 1:44,601,412...44,607,781
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:19542096 PMID:24319099 PMID:27086870 PMID:28492532 |
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NCBI chr 1:44,614,162...44,626,367
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:19542096 PMID:24319099 PMID:27086870 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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Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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ISO |
ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia |
ClinVar |
PMID:10080174 PMID:22644603 PMID:25326637 PMID:25741868 PMID:26345448 PMID:28492532 PMID:30090137 PMID:31665838 PMID:33083013 PMID:34716721 More...
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NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466
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G |
Oprm1 |
opioid receptor, mu 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 |
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NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409
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G |
Rgs17 |
regulator of G-protein signaling 17 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:19542096 PMID:24319099 PMID:27086870 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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G |
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 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
OMIM ClinVar CTD RGD |
PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 PMID:19944109 PMID:21496632 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:25326637 PMID:25401298 PMID:25640679 PMID:25741868 PMID:25843669 PMID:25976027 PMID:26302956 PMID:26350515 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27060904 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:27378695 PMID:27671794 PMID:27782104 PMID:27790088 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28324520 PMID:28492532 PMID:28687974 PMID:28750076 PMID:28798025 PMID:29077258 PMID:29389947 PMID:29482223 PMID:29625556 PMID:29892087 PMID:29915382 PMID:29961767 PMID:30029642 PMID:30119932 PMID:30275942 PMID:30487145 PMID:30564623 PMID:30573412 PMID:30610203 PMID:30619065 PMID:30993396 PMID:31103315 PMID:31127727 PMID:31230720 PMID:31692161 PMID:32038460 PMID:32348865 PMID:32488064 PMID:32816195 PMID:32870032 PMID:32889669 PMID:32934002 PMID:33397523 PMID:33651373 PMID:33726816 PMID:34275688 PMID:34368859 PMID:34602496 PMID:34890876 PMID:35190550 PMID:35304488 PMID:35595401 PMID:35789476 PMID:36129056 PMID:36413997 PMID:37217505 PMID:37273706 PMID:27086870 More...
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RGD:13209001 |
NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322
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G |
Vip |
vasoactive intestinal peptide |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:19542096 PMID:24319099 PMID:27086870 PMID:28492532 |
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NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
OMIM CTD ClinVar RGD |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25656163 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:27577505 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:31942761 PMID:32581362 PMID:32883312 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:35945798 PMID:36192182 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
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G |
Atcay |
ATCAY kinesin light chain interacting caytaxin |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:601238 ClinVar Annotator: match by term: ATCAY-related condition | ClinVar Annotator: match by term: Cayman type cerebellar ataxia |
OMIM CTD MouseDO 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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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:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
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NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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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:14745080 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:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 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:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 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:21305355 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22237560 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 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:24091540 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:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 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:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 PMID:38772265 PMID:38845467 More...
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NCBI chr 1:142,792,119...142,808,933
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 | ClinVar Annotator: match by term: TRPC3-related condition |
OMIM ClinVar |
PMID:25477146 PMID:25741868 PMID:28492532 |
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NCBI chr 2:121,409,436...121,487,095
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 ISS |
OMIM:616795 ClinVar Annotator: match by term: CACNA1G-related disorders | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 |
OMIM MouseDO 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 chr10:79,851,886...79,919,926
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:31589614 PMID:33144514 PMID:33726816 PMID:34307994 PMID:34426522 PMID:35318247 PMID:36517691 More...
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NCBI chr 2:149,806,826...149,957,381
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: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 |
OMIM ClinVar |
PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 |
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NCBI chr 5:148,120,712...148,238,468
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: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
ClinVar |
PMID:24113144 PMID:24719489 PMID:25741868 PMID:28396517 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:33417001 PMID:34070858 PMID:34565360 More...
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NCBI chr10:15,353,460...15,356,392
Ensembl chr10:14,848,980...14,851,879
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G |
Rhbdl1 |
rhomboid like 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,359,027...15,362,530
Ensembl chr10:14,854,514...14,857,430
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G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
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ISO |
ClinVar Annotator: match by term: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
OMIM ClinVar |
PMID:10330192 PMID:24113144 PMID:24719489 PMID:25258038 PMID:25741868 PMID:28396517 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:32713943 PMID:33417001 PMID:33564152 PMID:33811518 PMID:34070858 PMID:34565360 PMID:34906452 PMID:36422518 More...
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NCBI chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046
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G |
Wdr24 |
WD repeat domain 24 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,346,835...15,353,384
Ensembl chr10:14,843,728...14,848,864
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G |
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 1:90,295,495...90,305,047
Ensembl chr 1:81,166,023...81,177,265
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G |
Atp8a2 |
ATPase phospholipid transporting 8A2 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 ClinVar Annotator: match by term: Dysequilibrium syndrome |
CTD MouseDO ClinVar |
PMID:25741868 |
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NCBI chr15:37,993,507...38,526,408
Ensembl chr15:33,819,755...34,350,223
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G |
Car8 |
carbonic anhydrase 8 |
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ISS |
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 |
MouseDO |
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NCBI chr 5:26,102,767...26,199,819
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: Dysequilibrium syndrome |
CTD ClinVar |
PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22532556 PMID:22700954 PMID:22973972 PMID:25741868 PMID:27000652 PMID:28492532 More...
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NCBI chr 1:234,239,769...234,272,150
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, 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 | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: VLDLR-related condition |
OMIM ClinVar |
PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22532556 PMID:22700954 PMID:22973972 PMID:25741868 PMID:27000652 PMID:28492532 More...
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NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920
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G |
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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | ClinVar Annotator: match by term: WDR81-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:26437881 PMID:28097321 PMID:28492532 PMID:28556411 PMID:28940097 PMID:28969387 PMID:30560021 PMID:31363758 More...
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NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296
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G |
Atp8a2 |
ATPase phospholipid transporting 8A2 |
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ISO |
ClinVar Annotator: match by term: ATP8A2-related condition | ClinVar Annotator: match by term: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
OMIM ClinVar |
PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 PMID:28492532 PMID:29531481 PMID:30012219 PMID:31397519 PMID:31612321 PMID:33079427 PMID:33682124 PMID:35321980 More...
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NCBI chr15:37,993,507...38,526,408
Ensembl chr15:33,819,755...34,350,223
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G |
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 2:137,445,787...137,536,512
Ensembl chr 2:135,294,906...135,385,947
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G |
Rfc1 |
replication factor C subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ClinVar Annotator: match by term: RFC1-related condition DNA:repeats:intron:(AAGGG)n (human) DNA:repeat:intron: DNA:repeat:intron: |
OMIM ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 PMID:30926972 More...
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RGD:401940162, RGD:41404728, RGD:41404727 |
NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370
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G |
Brf1 |
BRF1 general transcription factor IIIB subunit |
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ISO |
ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM ClinVar |
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 |
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NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:132,037,272...132,081,278
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G |
Fxn |
frataxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease |
ClinVar |
PMID:25741868 PMID:31673878 |
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NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
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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G |
Sacs |
sacsin molecular chaperone |
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ISO ISS |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay OMIM:270550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 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:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 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:23785480 PMID:24030952 PMID:24033266 PMID:24108619 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24418350 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:26633542 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32709422 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34121011 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35499206 PMID:35578252 PMID:35731353 PMID:35904974 PMID:36233161 PMID:36600740 PMID:38928084 More...
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NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
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G |
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 chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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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 | ClinVar Annotator: match by term: DNAJC3-related condition |
OMIM ClinVar |
PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 PMID:33486469 More...
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NCBI chr15:102,432,667...102,475,643
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 5:121,232,532...121,398,775
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 7:109,313,021...109,315,813
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 | ClinVar Annotator: match by term: FRMD4A-related condition |
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 |
Prpf18 |
pre-mRNA processing factor 18 |
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ISO |
ClinVar Annotator: match by term: FRMD4A-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
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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 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 5 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 |
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NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944
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G |
Slc1a3 |
solute carrier family 1 member 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 6 | ClinVar Annotator: match by term: SLC1A3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28472652 PMID:28492532 PMID:29062094 PMID:29208948 PMID:30257206 PMID:32741053 More...
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NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:57,755,497...57,830,605
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9566402 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11061267 PMID:11176968 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11960817 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12111613 PMID:12235360 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15032980 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16508934 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18400034 PMID:18437043 PMID:18581134 PMID:19242091 PMID:19344873 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:20080591 PMID:20129625 PMID:20301562 PMID:20837964 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22969264 PMID:23183922 PMID:23407676 PMID:23934111 PMID:23961289 PMID:24033266 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24849341 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28566750 PMID:28856914 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29915382 PMID:30063100 PMID:30283815 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31692161 PMID:31824404 PMID:32170034 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33278787 PMID:33798445 PMID:34102571 PMID:34436362 PMID:34445196 PMID:35217970 PMID:35401678 PMID:35722745 PMID:36530930 PMID:37326332 PMID:97053792 More...
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NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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G |
Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:17,448,195...17,454,117
Ensembl chr X:14,776,293...14,782,202
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
DNA:SNP: :rs5186(human) |
RGD |
PMID:21771600 |
RGD:401717567 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Fxn |
frataxin |
treatment onset |
ISO ISS |
DNA:point mutation:exon:p.G130V ClinVar Annotator: match by term: Friedreich ataxia DNA:repeat,deletion:intron,exon:GAA(human) CTD Direct Evidence: marker/mechanism DNA:repeat:intron:GAA (human) |
ClinVar MouseDO CTD RGD |
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 PMID:10543403 PMID:10732799 PMID:10913738 PMID:11020385 PMID:11030757 PMID:11843702 PMID:12019217 PMID:12923074 PMID:16120311 PMID:16239244 PMID:16911956 PMID:17101455 PMID:17331979 PMID:17703324 PMID:18537827 PMID:19494730 PMID:19629184 PMID:19775837 PMID:20098685 PMID:20162437 PMID:21298097 PMID:21412413 PMID:21671584 PMID:22016819 PMID:23418481 PMID:25566998 PMID:25741868 PMID:26301374 PMID:26339677 PMID:26467025 PMID:26704351 PMID:26954031 PMID:28812047 PMID:29272104 PMID:30451920 PMID:31980526 PMID:34747814 PMID:10543403 PMID:32646255 PMID:22409940 PMID:22113996 PMID:37166361 PMID:24667739 PMID:8596916 More...
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RGD:1598961, RGD:401793713, RGD:401793711, RGD:401793708, RGD:401793707, RGD:401717566, RGD:1582636 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
DNA:missense mutation:cds:m.3696C>T (human) |
RGD |
PMID:18807169 |
RGD:5490251 |
Ensembl chr MT:2,740...3,694
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G |
Fxn |
frataxin |
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ISO |
ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 PMID:10913738 PMID:17331979 PMID:19775837 PMID:21412413 PMID:21671584 PMID:25566998 PMID:25741868 PMID:26467025 PMID:31673878 PMID:34747814 PMID:34906502 More...
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NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 PMID:21465660 PMID:24091540 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27391121 PMID:27572814 PMID:27862915 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29482223 PMID:29925855 PMID:30564305 PMID:32499604 PMID:33948933 PMID:37164302 More...
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NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Gillespie syndrome |
ClinVar |
PMID:25741868 PMID:26899008 |
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NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition |
OMIM CTD ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
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NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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G |
Grid2 |
glutamate ionotropic receptor delta type subunit 2 |
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ISO |
ClinVar Annotator: match by term: GRID2-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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G |
Mutyh |
mutY DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
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G |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome |
ClinVar |
PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
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NCBI chr16:56,066...95,060
Ensembl chr16:49,521...88,172
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 PMID:26204956 PMID:26478204 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:29141312 PMID:30548255 PMID:31221184 PMID:31969655 PMID:32180488 PMID:32319736 PMID:32342562 PMID:32345981 PMID:32371413 PMID:32870266 PMID:33417887 PMID:33726816 PMID:34440436 PMID:35253369 PMID:35316923 PMID:36268624 PMID:37273706 More...
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NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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G |
Itm2b |
integral membrane protein 2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica |
OMIM CTD ClinVar |
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Atxn3 |
ataxin 3 |
susceptibility treatment |
ISO |
ClinVar Annotator: match by term: Azorean disease CTD Direct Evidence: marker/mechanism protein:increased degradation, altered localization:neuron, nucleus |
OMIM ClinVar CTD RGD |
PMID:25741868 PMID:31378764 PMID:7874163 PMID:18841197 PMID:18385100 PMID:9804376 PMID:20308049 More...
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RGD:1599419, RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997 |
NCBI chr 6:126,837,107...126,872,919
Ensembl chr 6:121,074,448...121,107,902
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G |
Becn1 |
beclin 1 |
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ISO |
protein:decreased expression:brain protein:decreased expression:fibroblast |
RGD |
PMID:21478185 PMID:21478185 |
RGD:6483072, RGD:6483072 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
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G |
S100b |
S100 calcium binding protein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21743141 |
RGD:5508762 |
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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G |
Slc18a2 |
solute carrier family 18 member A2 |
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IEP |
protein:decreased expression:substantia nigra (rat) |
RGD |
PMID:18385100 |
RGD:5131159 |
NCBI chr 1:268,399,815...268,435,229
Ensembl chr 1:258,413,959...258,448,325
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G |
Th |
tyrosine hydroxylase |
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IEP |
protein:decreased expression:substantia nigra (rat) |
RGD |
PMID:18385100 |
RGD:5131159 |
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G |
Eif2a |
eukaryotic translation initiation factor 2A |
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ISO |
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:144,911,247...144,944,705
Ensembl chr 2:142,761,416...142,795,068
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G |
Sil1 |
SIL1 nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome |
ClinVar |
PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 PMID:16282978 PMID:17026626 PMID:17309654 PMID:17576681 PMID:18285827 PMID:19471582 PMID:20111056 PMID:21873089 PMID:22995991 PMID:23062754 PMID:23829326 PMID:24176978 PMID:24473200 PMID:24631270 PMID:24755310 PMID:25741868 PMID:26467025 PMID:26733775 PMID:28492532 PMID:31130284 PMID:31258504 PMID:32502767 PMID:32552793 PMID:33250842 More...
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NCBI chr18:27,146,526...27,378,459
Ensembl chr18:26,872,429...27,104,332
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G |
Pitrm1 |
pitrilysin metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia |
ClinVar |
PMID:29764912 |
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NCBI chr17:63,795,670...63,827,317
Ensembl chr17:63,795,671...63,839,907
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: mitochondrial hepatopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy |
OMIM ClinVar |
PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:18575922 PMID:18973250 PMID:19084593 PMID:20479361 PMID:20659899 PMID:21681116 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:24086434 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28776642 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35011763 PMID:35286480 PMID:35982159 PMID:36099812 PMID:37302426 More...
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NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802
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G |
Msto1 |
misato mitochondrial distribution and morphology regulator 1 |
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ISO |
ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 PMID:29339779 PMID:30684668 PMID:31463572 PMID:31604776 PMID:31607746 PMID:33222031 PMID:35598585 PMID:36468072 PMID:36474027 PMID:37431817 More...
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NCBI chr 2:176,603,755...176,608,037
Ensembl chr 2:174,301,861...174,310,216
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G |
Samd9l |
sterile alpha motif domain containing 9 like |
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ISO |
ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:29146900 PMID:29217778 PMID:30046003 PMID:30322869 PMID:31692161 PMID:33884299 PMID:34621053 PMID:35295078 PMID:35310830 More...
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NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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G |
Caprin1 |
cell cycle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline |
OMIM ClinVar |
PMID:25741868 PMID:36136249 |
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NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:90,153,620...90,230,502
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G |
Aadacl3 |
arylacetamide deacetylase-like 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205
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G |
Aadacl4 |
arylacetamide deacetylase-like 4 |
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ISO |
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695
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