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G |
Ahnak2 |
AHNAK nucleoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Dysmetria |
ClinVar |
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NCBI chr 6:131,830,668...131,876,311
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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 |
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NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
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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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
Ataxia, cerebellar, ATP1B2-related |
OMIA |
PMID:28620085 PMID:37341581 |
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NCBI chr10:54,318,698...54,324,933
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 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
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 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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G |
Caprin1 |
cell cycle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:36136249 |
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NCBI chr 3:90,152,305...90,230,447
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 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
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 |
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NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Csmd1 |
CUB and Sushi multiple domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35351988 |
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NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
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 chr13:73,308,726...73,336,558
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 |
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 PMID:18717720 PMID:20193560 PMID:23384994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28768847 More...
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:36675067 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
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 4:159,542,941...159,576,189
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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:33242881 PMID:36746441 |
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NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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G |
Kif1c |
kinesin family member 1C |
|
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 1:133,639,487...133,658,539
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:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
DNA:mutation:cds:c.241A4G(p.K81E)(human) |
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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G |
Lrch2 |
leucine rich repeats and calponin homology domain containing 2 |
|
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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mlc1 |
modulator of VRAC current 1 |
|
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 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
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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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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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NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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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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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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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
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
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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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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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NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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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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NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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
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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NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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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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NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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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 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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Ncdn |
neurochondrin |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:33711248 |
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NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
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Nop56 |
NOP56 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
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Pde1b |
phosphodiesterase 1B |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:134,627,378...134,654,581
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 9:14,258,145...14,270,335
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:10602363 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:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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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 chr12:1,574,387...1,603,735
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 1:133,382,764...133,399,578
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 3:15,520,717...15,538,579
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 1:65,832,851...65,860,676
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 chr10:71,505,113...71,515,297
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 More...
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NCBI chr17:9,308,471...9,310,553
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 chr14:42,966,279...43,041,372
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 9:58,348,027...58,534,256
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 7:131,982,152...132,156,075
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 |
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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 chr14:58,311,484...58,341,745
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:26467025 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia |
ClinVar |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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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 2:139,292,630...139,319,248
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 1:202,002,970...202,045,343
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:19481195 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 3:16,076,725...16,138,431
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 3:10,241,793...10,244,686
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 1:41,512,146...41,983,382
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 chr20:5,026,366...5,056,659
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 chr17:40,228,943...40,240,337
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 5:57,787,670...57,817,900
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 chr16:18,333,910...18,381,813
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 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975
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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 chr18:75,976,478...76,072,428
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 2:116,665,651...116,703,354
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: 3-methylglutaconic aciduria type V 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: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 2:116,884,167...116,937,590
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 8:53,979,813...54,008,861
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 8:51,117,057...51,188,790
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 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 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17726045 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19650357 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22109722 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22520355 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23242139 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25085752 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25186949 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25586381 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25742471 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26344566 PMID:26380989 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 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27066513 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27142713 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27692705 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27854218 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID: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: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 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28888541 PMID:28894253 PMID:28898322 PMID:28916186 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29081736 PMID:29101607 PMID:29127364 PMID:29141312 PMID:29144541 PMID:29155101 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29308099 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29445900 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29486991 PMID:29487225 PMID:29489040 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29600275 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 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: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: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:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30833958 PMID: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: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: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: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: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: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: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: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: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:36704080 PMID:36717774 PMID:36790564 PMID:36898365 PMID:36979741 PMID:36988593 PMID:37009283 PMID:37088804 PMID:37149759 PMID:37239058 PMID:37262986 PMID:37436117 PMID:37438524 PMID:37445923 PMID:37453313 PMID:38003901 PMID:38017116 PMID:197781682 PMID:19626507 PMID:28007901 More...
|
RGD:10053611, RGD:12879399 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Atmem1Kyo |
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo |
|
IMP |
|
RGD |
PMID:28007901 |
RGD:12879399 |
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
DNA:mutation:exon:c.342C>T(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
susceptibility |
ISO |
DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
|
|
G |
Bik |
BCL2-interacting killer |
susceptibility |
ISO |
DNA:deletion:intron:IVS4-12delTC(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28524057 PMID:28947956 PMID:31475041 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Btg4 |
BTG anti-proliferation factor 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
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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 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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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: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: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: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: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: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:34873480 PMID:34949663 PMID:34954471 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35127508 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:35365198 PMID:35402282 PMID:35467778 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:36119527 PMID:36200007 PMID:36243179 PMID:36315919 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36704080 PMID:36790564 PMID:36988593 PMID:37009283 PMID:37262986 PMID:37438524 PMID:37445923 PMID:38017116 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
C8h11orf87 |
similar to human chromosome 11 open reading frame 87 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
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G |
Casp1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp4 |
caspase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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G |
Ccdc82 |
coiled-coil domain containing 82 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
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G |
Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cep57 |
centrosomal protein 57 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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G |
Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Cntn5 |
contactin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Cul5 |
cullin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwc15 |
CWC15 spliceosome-associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Ddi1 |
DNA-damage inducible 1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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G |
Ddx10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
|
|
G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Elmod1 |
ELMO domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
|
|
G |
Endod1 |
endonuclease domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,209,113...11,238,507
Ensembl chr 8:11,211,110...11,238,892
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
|
|
G |
Fam76b |
family with sequence similarity 76, member B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
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|
G |
Fdx1 |
ferredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
|
|
G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
|
|
G |
Fut4 |
fucosyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
|
|
G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
|
|
G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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|
G |
Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
protein:altered localization:nucleus: |
RGD |
PMID:22466704 PMID:22466704 PMID:22466704 |
RGD:9681455, RGD:9681455, RGD:9681455 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
|
|
G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
|
|
G |
Hspb2 |
heat shock protein family B (small) member 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
Ifng |
interferon gamma |
|
ISO |
|
RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Il6 |
interleukin 6 |
severity |
ISO |
|
RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Jrkl |
JRK-like |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
|
|
G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
|
|
G |
Kdm4d |
lysine demethylase 4D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
|
|
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
|
|
G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
|
|
G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
|
|
G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
|
|
G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
|
|
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
|
|
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
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
|
|
G |
Mmp7 |
matrix metallopeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
|
|
G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
|
|
G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
|
|
G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
|
|
G |
Mtmr2 |
myotubularin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
|
|
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
|
|
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
|
|
G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
|
|
G |
Pgr |
progesterone receptor |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
|
|
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
|
|
G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
|
|
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
|
|
G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
|
|
G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
|
|
G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
|
|
G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
|
|
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
|
|
G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
|
|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
|
|
G |
Sesn3 |
sestrin 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
|
|
G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
|
|
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
|
|
G |
Sln |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
|
|
G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
|
|
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
|
|
G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
|
|
G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
|
|
G |
Zc3h12c |
zinc finger CCCH type containing 12C |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
|
|
|
G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder |
CTD ClinVar |
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 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:29276006 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:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 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:36035419 PMID:36050397 PMID:36091175 PMID:36113475 PMID:37013556 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Aptx |
aprataxin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 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 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ClinVar |
PMID: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 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM CTD ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 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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Atm |
ATM serine/threonine kinase |
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ISO |
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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID: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 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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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:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 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:36035419 PMID:36091175 PMID:36113475 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 |
OMIM ClinVar |
PMID:24911150 PMID:25741868 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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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:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G |
Dagla |
diacylglycerol lipase, alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26467025 PMID:27066557 PMID:28492532 PMID:30031633 PMID:30504930 More...
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35401678 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26489027 PMID:28492532 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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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 chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 PMID:25741868 PMID:26467025 PMID:27108797 PMID:27908616 PMID:28492532 PMID:28659154 PMID:28660440 PMID:29186133 PMID:29232918 PMID:29758065 PMID:29925855 PMID:30564305 PMID:30778698 More...
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NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Kif26b |
kinesin family member 26B |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:29053796 |
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NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
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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 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr11:71,108,100...71,185,170
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 3:116,900,990...116,913,334
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 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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G |
Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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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 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
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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 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 PMID:25664551 PMID:25741868 PMID:26467025 PMID:27045840 PMID:27142713 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:30838263 More...
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NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Prdx3 |
peroxiredoxin 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:35792670 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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G |
Septin11 |
septin 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:25741868 PMID:31673878 |
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NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
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G |
Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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G |
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 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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G |
Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
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NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia |
ClinVar |
PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID: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 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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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: 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 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Syt14 |
synaptotagmin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 |
OMIM ClinVar |
PMID:21835308 PMID:25741868 PMID:26467025 |
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NCBI chr13:104,416,796...104,570,790
Ensembl chr13:104,420,580...104,569,069
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 |
ClinVar |
PMID:24369382 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:32214227 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Wwox |
WW domain-containing oxidoreductase |
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ISO 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 chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Grm1 |
glutamate metabotropic receptor 1 |
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ISO 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 1:5,058,285...5,453,170
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 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | 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 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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Rubcn |
rubicon autophagy regulator |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 |
OMIM ClinVar |
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 PMID:32450808 More...
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NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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Jmjd8 |
jumonji domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 |
ClinVar |
PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 PMID:31571321 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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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 chr10:14,854,514...14,858,848
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: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:33097556 PMID:33200713 PMID:33417001 PMID:34234304 PMID:34663476 More...
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NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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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 chr10:14,844,089...14,848,871
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 |
OMIM ClinVar |
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 PMID:26197978 PMID:27016154 PMID:28492532 More...
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NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961
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Grid2 |
glutamate ionotropic receptor delta type subunit 2 |
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ISO 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome |
OMIM CTD ClinVar |
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 |
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NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 PMID:32369273 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 |
ClinVar |
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NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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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: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 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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Vwa3b |
von Willebrand factor A domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 |
OMIM ClinVar |
PMID:25741868 PMID:26157035 |
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NCBI chr 9:39,249,523...39,419,614
Ensembl chr 9:39,250,430...39,419,611
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Tdp2 |
tyrosyl-DNA phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 |
OMIM ClinVar |
PMID:24658003 PMID:25741868 PMID:30109272 |
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NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
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Uba5 |
ubiquitin-like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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Atg5 |
autophagy related 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 |
ClinVar OMIM |
PMID:15981765 PMID:26812546 |
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NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 |
OMIM ClinVar |
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 PMID:22188361 PMID:22761669 PMID:22992668 PMID:24224851 PMID:24446315 PMID:25025378 PMID:25232828 PMID:25741868 PMID:27248474 PMID:27636246 PMID:28002403 PMID:28422153 PMID:28743242 PMID:29472272 PMID:29662106 More...
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NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Gdap2 |
ganglioside-induced differentiation-associated-protein 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 |
OMIM ClinVar |
PMID:25741868 PMID:30084953 |
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NCBI chr 2:187,528,514...187,585,270
Ensembl chr 2:187,528,513...187,585,270
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Thg1l |
tRNA-histidine guanylyltransferase 1-like |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 |
OMIM ClinVar |
PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 |
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NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
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Vps41 |
VPS41 subunit of HOPS complex |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 |
OMIM ClinVar |
PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 |
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NCBI chr17:46,063,132...46,227,533
Ensembl chr17:46,063,124...46,227,791
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Pitrm1 |
pitrilysin metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 |
OMIM ClinVar |
PMID:26697887 PMID: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: Spinocerebellar ataxia, autosomal recessive 31 |
OMIM ClinVar |
PMID:25741868 PMID:34161705 PMID:35405176 |
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NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Prdx3 |
peroxiredoxin 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 |
OMIM ClinVar |
PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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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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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: 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:31680123 PMID:34906502 More...
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NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Tpp1 |
tripeptidyl peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | 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:19201763 PMID:19793312 PMID:20301601 PMID:20340139 PMID:21990111 PMID:22245569 PMID:22612257 PMID:22752289 PMID:23266810 PMID:23418007 PMID:23539563 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:29687370 PMID:30771299 PMID:31122803 PMID:31283065 PMID:31489614 PMID:32329550 PMID:32412666 PMID:32855042 PMID:34126256 More...
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NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | 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 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Fbxo5 |
F-box protein 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,196,068...42,202,437
Ensembl chr 1:42,196,068...42,202,437
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Mtrf1l |
mitochondrial translation release factor 1 like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,208,553...42,221,020
Ensembl chr 1:42,210,583...42,220,836
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Myct1 |
myc target 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,018,137...42,029,410
Ensembl chr 1:42,018,137...42,029,410
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Rgs17 |
regulator of G-protein signaling 17 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,222,248...42,324,625
Ensembl chr 1:42,227,070...42,324,609
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Smo |
smoothened, frizzled class receptor |
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ISO |
ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia |
ClinVar |
PMID:24728327 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 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: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:34275688 PMID:34368859 PMID:34602496 PMID:34890876 PMID:35190550 PMID:35304488 PMID:35595401 PMID:27086870 More...
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RGD:13209001 |
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Vip |
vasoactive intestinal peptide |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM 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:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Atcay |
ATCAY kinesin light chain interacting caytaxin |
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ISO ISS |
OMIM:601238 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cayman type cerebellar ataxia |
OMIM MouseDO CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:29449188 |
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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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
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 6:6,562,631...6,579,995
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: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:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 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: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: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: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:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Trpc3 |
transient receptor potential cation channel, subfamily C, member 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 |
OMIM ClinVar |
PMID:25477146 PMID:25741868 PMID:28492532 |
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NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO ISS |
OMIM:616795 ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 |
OMIM MouseDO ClinVar |
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 PMID:29629410 PMID:29878067 PMID:32736238 PMID:32860008 PMID:32878331 More...
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NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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G |
Mme |
membrane metallo-endopeptidase |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 43 |
OMIM ClinVar |
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27583304 PMID:27588448 PMID:28492532 PMID:30415211 PMID:33144514 PMID:35318247 PMID:36517691 More...
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NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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G |
Pum1 |
pumilio RNA-binding family member 1 |
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ISO |
ClinVar Annotator: match by term: 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 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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G |
Jmjd8 |
jumonji domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 48 |
ClinVar |
PMID:24719489 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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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 chr10:14,854,514...14,858,848
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: Spinocerebellar ataxia 48 |
OMIM ClinVar |
PMID:24719489 PMID:25258038 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
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NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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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 chr10:14,844,089...14,848,871
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 1:81,168,128...81,177,266
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 chr15:33,817,309...34,350,193
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 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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G |
Vldlr |
very low density lipoprotein receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome |
CTD ClinVar |
PMID:11913577 PMID:16080122 PMID: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 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Vldlr |
very low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
OMIM ClinVar |
PMID:11913577 PMID:16080122 PMID: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 1:224,813,539...224,850,400
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, mental retardation, and dysequilibrium syndrome 2 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 More...
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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G |
Car8 |
carbonic anhydrase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 |
OMIM CTD ClinVar |
PMID:19461874 PMID:21937992 PMID:25741868 |
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NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374
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G |
Atp8a2 |
ATPase phospholipid transporting 8A2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
OMIM ClinVar |
PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 PMID:28492532 PMID:29531481 PMID:31397519 PMID:31612321 PMID:33079427 PMID:33682124 PMID:35321980 More...
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NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223
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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 2:135,292,291...135,385,942
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 |
DNA:repeats:intron:(AAGGG)n (human) ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome DNA:repeat:intron: DNA:repeat:intron: |
OMIM ClinVar RGD |
PMID:25741868 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 PMID:30926972 More...
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RGD:401940162, RGD:41404728, RGD:41404727 |
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM CTD ClinVar |
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 |
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NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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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 OMIM:270550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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: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: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: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:36233161 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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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 chr15:35,388,836...35,435,072
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 5:61,653,773...61,710,777
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
OMIM CTD ClinVar |
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 |
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NCBI chr15:96,025,605...96,068,585
Ensembl chr15:96,025,624...96,065,181
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Dnajc6 |
DnaJ heat shock protein family (Hsp40) member C6 |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 |
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NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
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Mafa |
MAF bZIP transcription factor A |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:25741868 |
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NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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Frmd4a |
FERM domain containing 4A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia |
OMIM CTD 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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Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
susceptibility |
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 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
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Slc1a3 |
solute carrier family 1 member 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 6 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 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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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:34102571 PMID:34436362 PMID:35401678 PMID:35722745 PMID:36530930 PMID:97053792 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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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:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
DNA:SNP: :rs5186(human) |
RGD |
PMID:21771600 |
RGD:401717567 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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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: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: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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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 |
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Fxn |
frataxin |
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ISO |
ClinVar Annotator: match by term: Friedreich ataxia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9090376 PMID:9737785 PMID:10913738 PMID:19775837 PMID:25566998 PMID:25741868 PMID:26467025 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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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 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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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 3:92,128,772...92,157,022
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 chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Rnf216 |
ring finger protein 216 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
OMIM CTD ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
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NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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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 5:130,274,034...130,286,149
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 chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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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:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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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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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 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
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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 chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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S100b |
S100 calcium binding protein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21743141 |
RGD:5508762 |
NCBI chr20:12,372,866...12,381,619
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 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
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Th |
tyrosine hydroxylase |
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IEP |
protein:decreased expression:substantia nigra (rat) |
RGD |
PMID:18385100 |
RGD:5131159 |
NCBI chr 1:198,071,500...198,078,832
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 2:142,761,303...142,794,767
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 chr18:26,872,423...27,104,365
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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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 1:133,382,764...133,399,578
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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: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:31852434 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35011763 PMID:35286480 PMID:35982159 PMID:36099812 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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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: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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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 3:90,152,305...90,230,447
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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G |
Camta1 |
calmodulin binding transcription activator 1 |
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ISO |
ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29389947 PMID:30838254 PMID:31957018 PMID:32157189 PMID:33131045 PMID:33677721 More...
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NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
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G |
Cfap107 |
cilia and flagella associated protein 107 |
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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 5:156,212,385...156,231,481
Ensembl chr 5:156,212,385...156,231,481
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G |
Dhrs3 |
dehydrogenase/reductase 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 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417
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G |
Mfn2 |
mitofusin 2 |
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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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Miip |
migration and invasion inhibitory protein |
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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 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694
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G |
Nid1 |
nidogen 1 |
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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 chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Pou4f1 |
POU class 4 homeobox 1 |
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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 chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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G |
Prdm16 |
PR/SET domain 16 |
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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 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Slc9a1 |
solute carrier family 9 member A1 |
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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 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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G |
Smyd3 |
SET and MYND domain containing 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 chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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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 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
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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 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
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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 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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G |
Cdc42bpa |
CDC42 binding protein kinase alpha |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 |
ClinVar |
PMID:24164873 |
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NCBI chr13:91,683,775...91,903,732
Ensembl chr13:91,684,007...91,903,732
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G |
Coq8a |
coenzyme Q8A |
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ISO ISS |
ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM:612016 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 PMID:18319072 PMID:18319074 PMID:18414213 PMID:19440741 PMID:20495179 PMID:20580948 PMID:21873089 PMID:22036850 PMID:24033266 PMID:24048965 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25356970 PMID:25498144 PMID:25525159 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:26757139 PMID:27106809 PMID:27142713 PMID:27848944 PMID:28492532 PMID:29159460 PMID:29255295 PMID:29482223 PMID:29915382 PMID:30548255 PMID:30637285 PMID:30850373 PMID:30968303 PMID:31589614 PMID:31621627 PMID:31890231 PMID:32337771 PMID:32637629 PMID:32685350 PMID:32743982 PMID:32771712 PMID:32830305 PMID:32961396 PMID:33098801 PMID:33622667 PMID:33949708 PMID:34445196 PMID:34663476 PMID:34712575 More...
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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G |
Amdhd2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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G |
Antkmt |
adenine nucleotide translocase lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
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G |
Arhgdig |
Rho GDP dissociation inhibitor gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213
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G |
Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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G |
Axin1 |
axin 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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G |
Baiap3 |
BAI1-associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
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G |
Bicdl2 |
BICD family like cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
C10h16orf90 |
similar to human chromosome 16 open reading frame 90 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910
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G |
C10h16orf96 |
similar to human chromosome 16 open reading frame 96 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,707,529...10,750,893
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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G |
Capn15 |
calpain 15 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508
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G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccdc154 |
coiled-coil domain containing 154 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Ccdc78 |
coiled-coil domain containing 78 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdip1 |
cell death-inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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G |
Chtf18 |
chromosome transmission fidelity factor 18 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
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G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,714,137...12,715,568
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G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479
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G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161
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G |
Dnase1 |
deoxyribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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G |
Fam234a |
family with sequence similarity 234, member A |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
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G |
Fbxl16 |
F-box and leucine-rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
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G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
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G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
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G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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G |
Haghl |
hydroxyacylglutathione hydrolase-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
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G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
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G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO ISS |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM:266920 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 PMID:36460718 More...
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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G |
Luc7l |
LUC7-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112
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G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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G |
Mcrip2 |
MAPK regulated co-repressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
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G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
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G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
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|
G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
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|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
|
|
G |
Msln |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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G |
Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
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G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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|
G |
Nlrc3 |
NLR family, CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398
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G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
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|
G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479
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|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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|
G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
|
|
G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
|
|
G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
|
|
G |
Nudt16l1 |
nudix hydrolase 16 like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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|
G |
Or1f34 |
olfactory receptor family 1 subfamily F member 34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
|
|
G |
Or2c1 |
olfactory receptor family 2 subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
|
|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
|
|
G |
Pdia2 |
protein disulfide isomerase family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:15,138,918...15,148,431
Ensembl chr10:15,138,959...15,148,431
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
|
|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
|
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
|
|
G |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,961,955...14,966,818
Ensembl chr10:14,962,162...14,964,152
|
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G |
Prss21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
|
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G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
|
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G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
|
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G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
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|
NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
|
|
G |
Rab11fip3 |
RAB11 family interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:15,002,650...15,086,382
Ensembl chr10:15,002,926...15,118,479
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
|
|
G |
Rab40c |
Rab40c, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,900,926...14,936,153
Ensembl chr10:14,900,929...14,936,557
|
|
G |
Rgs11 |
regulator of G-protein signaling 11 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,222,804...15,231,062
Ensembl chr10:15,222,803...15,231,060
|
|
G |
Rhbdl1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
|
|
G |
Rhot2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751
|
|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
|
|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
|
|
G |
Rpl3l |
ribosomal protein L3-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
|
|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
|
|
G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207
|
|
G |
Septin12 |
septin 12 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
|
|
G |
Smim22 |
small integral membrane protein 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,572,146...10,574,339
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G |
Sox8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
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G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
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G |
Sstr5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946
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G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tbl3 |
transducin (beta)-like 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
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G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
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NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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G |
Thoc6 |
THO complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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G |
Tmem204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
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G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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G |
Tpsab1 |
tryptase alpha/beta 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
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G |
Tpsb2 |
tryptase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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G |
Tpsg1 |
tryptase gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258
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G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Tsr3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,257,161...14,259,562
Ensembl chr10:14,257,171...14,259,561
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G |
Ubald1 |
UBA-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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G |
Ube2i |
ubiquitin-conjugating enzyme E2I |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443 Ensembl chr10:69,701,618...69,702,443
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G |
Unkl |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
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G |
Uqcc4 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029
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G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
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G |
Wdr90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292
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G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863
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G |
Zfp13 |
zinc finger protein 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,615,455...12,623,615
Ensembl chr10:12,615,190...12,623,615
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G |
Zfp174 |
zinc finger protein 174 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312
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G |
Zfp213 |
zinc finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281
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G |
Zfp263 |
zinc finger protein 263 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,764,424...11,774,324
Ensembl chr10:11,764,427...11,771,235
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G |
Zfp597 |
zinc finger protein 597 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675
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G |
Zfp598 |
zinc finger protein 598 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
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G |
Zg16b |
zymogen granule protein 16B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572
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G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275
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G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 PMID:30017992 PMID:32162847 More...
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NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
|
OMIM |
|
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NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29878067 PMID:30792901 PMID:31217264 PMID:31836334 PMID:34248568 More...
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NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 44 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 45 |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Fat2 |
FAT atypical cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 |
OMIM ClinVar |
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 |
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NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216
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G |
Slc36a1 |
solute carrier family 36 member 1 |
|
ISO |
ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 |
ClinVar |
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 |
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NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217
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G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 46 |
OMIM ClinVar |
PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 PMID:25741868 PMID:26059842 PMID:28492532 PMID:29053796 PMID:32376792 More...
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 46 |
ClinVar |
PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 PMID:25741868 PMID:26059842 PMID:28492532 PMID:32376792 More...
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Samd9l |
sterile alpha motif domain containing 9 like |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 49 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29146900 PMID:35310830 |
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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 |
Nptx1 |
neuronal pentraxin 1 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 50 |
OMIM ClinVar |
PMID:25741868 PMID:34788392 PMID:35285082 PMID:35288776 PMID:35560436 |
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NCBI chr10:104,811,107...104,820,358
Ensembl chr10:104,811,403...104,820,367
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G |
Atxn1 |
ataxin 1 |
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ISO ISS |
OMIM:164400 ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 |
OMIM MouseDO ClinVar |
PMID:25741868 |
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NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360
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G |
Atxn10 |
ataxin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 |
OMIM CTD ClinVar |
PMID:25741868 |
|
NCBI chr 7:116,441,768...116,565,093
Ensembl chr 7:116,441,613...116,565,087
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G |
Ttbk2 |
tau tubulin kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition |
OMIM CTD ClinVar |
PMID:18037885 PMID:19533200 PMID:20301723 PMID:22073189 PMID:24808823 PMID:25741868 PMID:26063658 PMID:26467025 PMID:27744525 PMID:28492532 More...
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NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 |
OMIM CTD ClinVar |
PMID:25741868 |
|
NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
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G |
Kcnc3 |
potassium voltage-gated channel subfamily C member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 |
OMIM CTD ClinVar |
PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 PMID:20712895 PMID:21479265 PMID:21543613 PMID:22289912 PMID:22736459 PMID:22933745 PMID:23215817 PMID:23734863 PMID:23912307 PMID:24116147 PMID:25152487 PMID:25497598 PMID:25741868 PMID:25756792 PMID:25981959 PMID:26442672 PMID:26467025 PMID:28216058 PMID:28467418 PMID:28492532 PMID:30862666 PMID:32644043 More...
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NCBI chr 1:95,080,960...95,095,165
Ensembl chr 1:95,080,960...95,095,160
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G |
Prkcg |
protein kinase C, gamma |
|
ISO ISS |
OMIM:605361 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 |
OMIM MouseDO CTD ClinVar |
PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 PMID:15313841 PMID:15618281 PMID:15824357 PMID:15841389 PMID:15964845 PMID:16189624 PMID:16193476 PMID:16547918 PMID:16649092 PMID:16763984 PMID:17024314 PMID:17344846 PMID:17562946 PMID:17659643 PMID:18005063 PMID:18499672 PMID:18577575 PMID:19561170 PMID:20301573 PMID:21434874 PMID:21666345 PMID:21937992 PMID:24134140 PMID:24744737 PMID:24937631 PMID:25217572 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28738819 PMID:30093405 PMID:30363848 More...
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NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
DNA:deletions:multiple (human) ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 CTD Direct Evidence: marker/mechanism DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human) |
ClinVar CTD OMIM RGD |
PMID:10664581 PMID:12824425 PMID:14981189 PMID:17932120 PMID:18579805 PMID:20669319 PMID:21681106 PMID:22986007 PMID:23315928 PMID:24091540 PMID:25326635 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:28492532 PMID:28659154 PMID:28826917 PMID:29925855 PMID:30301590 PMID:30371827 PMID:30842224 PMID:31632679 PMID:31785789 PMID:32695065 PMID:33163565 PMID:34008892 PMID:35743164 PMID:36233161 PMID:36585006 PMID:21555639 PMID:20082166 More...
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RGD:6480683, RGD:6480871 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Rubcn |
rubicon autophagy regulator |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 |
ClinVar |
PMID:25741868 |
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NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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Setmar |
SET domain and mariner transposase fusion gene |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 |
ClinVar |
PMID:17932120 PMID:20669319 PMID:21681106 |
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NCBI chr 4:141,046,058...141,058,183
Ensembl chr 4:141,046,069...141,058,197
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Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Hspa8 |
heat shock protein family A (Hsp70) member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Hyou1 |
hypoxia up-regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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Pdia3 |
protein disulfide isomerase family A, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Tbp |
TATA box binding protein |
susceptibility |
ISO ISS |
OMIM:607136 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 |
OMIM MouseDO CTD ClinVar RGD |
PMID:25741868 PMID:23699518 |
RGD:9681730 |
NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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Eef2 |
eukaryotic translation elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11284128 PMID:17576681 PMID:17581856 PMID:21349352 PMID:21640846 PMID:21703448 PMID:22284586 PMID:22336521 PMID:22402074 PMID:22457051 PMID:22584458 PMID:22840528 PMID:23280837 PMID:23280838 PMID:23400760 PMID:23414114 PMID:23834499 PMID:23838598 PMID:24762397 PMID:25175087 PMID:25214526 PMID:25401298 PMID:25410959 PMID:25741868 PMID:25741869 PMID:26016905 PMID:26189493 PMID:26220970 PMID:26467025 PMID:26633542 PMID:28074886 PMID:28166811 PMID:28341588 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28895081 PMID:29053796 PMID:29062094 PMID:29482223 PMID:29527639 PMID:29953624 PMID:30662450 PMID:30776697 PMID:30847666 PMID:31017293 PMID:31130284 PMID:31195250 PMID:31293010 PMID:31695177 PMID:31737537 PMID:32709127 PMID:32818936 PMID:32921676 PMID:34085946 PMID:34087979 PMID:34361012 PMID:35932045 More...
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NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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Lama4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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Atxn2 |
ataxin 2 |
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ISO ISS |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 OMIM:183090 |
ClinVar OMIM MouseDO |
PMID:25741868 |
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NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
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Tmem240 |
transmembrane protein 240 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 |
OMIM CTD ClinVar |
PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30522958 PMID:33851480 More...
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Pdyn |
prodynorphin |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 PMID:23471613 PMID:25741868 PMID:26467025 PMID:27528516 PMID:28492532 PMID:35401678 More...
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NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30046113 PMID:30544257 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33199448 PMID:35411967 More...
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NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
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Eef2 |
eukaryotic translation elongation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 |
OMIM CTD ClinVar |
PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33355653 More...
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NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Fgf14 |
fibroblast growth factor 14 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 OMIM:193003 |
CTD ClinVar MouseDO |
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 More...
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NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Itgbl1 |
integrin subunit beta like 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 |
ClinVar |
PMID:25741868 |
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NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO ISS |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 OMIM:610246 CTD Direct Evidence: marker/mechanism DNA:deletion DNA:missense mutation:exon:p.P688T (c.2062C>A) (human) DNA:missense mutation:exon:p.E700K (c.2098G>A) (human) DNA:missense mutations: :multiple DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25401298 PMID:25741868 PMID:25741869 PMID:26454370 PMID:26467025 PMID:26633542 PMID:27165006 PMID:28444220 PMID:28492532 PMID:29053796 PMID:30773800 PMID:31111429 PMID:31327635 PMID:33956305 PMID:34333379 PMID:24814845 PMID:26868664 PMID:20354562 PMID:20208537 PMID:20725928 PMID:25485680 More...
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RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 |
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Tubb6 |
tubulin, beta 6 class V |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 29 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10664581 PMID:12824425 PMID:15623688 PMID:22986007 PMID:23315928 PMID:23806086 PMID:24088041 PMID:24091540 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25794864 PMID:25981959 PMID:26257172 PMID:26467025 PMID:27062503 PMID:27108798 PMID:27572814 PMID:28488678 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29389947 PMID:29925855 PMID:30301590 PMID:30371827 PMID:30778698 PMID:30842224 PMID:31632679 PMID:32499604 PMID:32695065 PMID:33163565 PMID:33948933 PMID:35351177 PMID:35743164 PMID:36233161 PMID:36585006 PMID:37164302 More...
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NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Bean1 |
brain expressed, associated with NEDD4, 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:19878914 |
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NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537
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Plekhg4 |
pleckstrin homology and RhoGEF domain containing G4 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 |
ClinVar |
PMID:16001362 PMID:16614795 PMID:16780885 |
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NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
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Elovl4 |
ELOVL fatty acid elongase 4 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 |
OMIM ClinVar |
PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 PMID:28559085 PMID:30065956 PMID:31105016 PMID:31692161 PMID:31750392 PMID:32211516 PMID:34234304 PMID:34623043 More...
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NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
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Tgm6 |
transglutaminase 6 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22287014 PMID:22554020 PMID:23206699 PMID:24755948 PMID:25133958 PMID:25253745 PMID:25741868 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28934387 PMID:29482223 PMID:30229425 PMID:30670339 PMID:31785789 PMID:31920494 PMID:32259886 PMID:32426513 PMID:33378849 PMID:34008892 PMID:35401678 More...
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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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Nop56 |
NOP56 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
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Dab1 |
DAB adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 |
OMIM ClinVar |
PMID:23700170 PMID:25741868 PMID:28686858 PMID:29939198 |
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NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
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Elovl5 |
ELOVL fatty acid elongase 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 |
OMIM ClinVar |
PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 |
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NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284
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Zfhx3 |
zinc finger homeobox 3 |
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ISO |
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OMIM |
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NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
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Ccdc88c |
coiled-coil domain containing 88C |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 |
OMIM ClinVar |
PMID:18414213 PMID:25062847 PMID:25741868 PMID:28492532 |
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NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO ISS |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 OMIM:600224 |
OMIM ClinVar MouseDO |
PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 PMID:25057192 PMID:25741868 PMID:25741869 PMID:25981959 PMID:26467025 PMID:26633542 PMID:28492532 PMID:29389947 PMID:29590070 PMID:31066025 PMID:31721007 PMID:33318253 PMID:33801522 PMID:38177409 More...
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NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO ISS |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 OMIM:183086 |
OMIM ClinVar MouseDO |
PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11439943 PMID:11742003 PMID:12056940 PMID:12707077 PMID:14718690 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15985579 PMID:16306128 PMID:16325861 PMID:16787562 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18354422 PMID:18434528 PMID:18437043 PMID:18597946 PMID:19344873 PMID:19486177 PMID:19624685 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20301562 PMID:20301674 PMID:20837964 PMID:21183743 PMID:21734179 PMID:22249839 PMID:22527033 PMID:22784462 PMID:23183922 PMID:23407676 PMID:23831250 PMID:24033266 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25326635 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27400454 PMID:27959697 PMID:28007337 PMID:28252636 PMID:28444220 PMID:28492532 PMID:28742085 PMID:28900389 PMID:28978442 PMID:29053796 PMID:29056246 PMID:29062094 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29482223 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30283815 PMID:31115040 PMID:31139143 PMID:31468518 PMID:31487502 PMID:31654490 PMID:31719132 PMID:32170034 PMID:33084218 PMID:33163565 PMID:33425808 PMID:33737904 PMID:33790770 PMID:34102571 PMID:34356170 PMID:34806130 PMID:35401678 PMID:35722745 PMID:36530930 PMID:37555011 PMID:97053792 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Atxn7 |
ataxin 7 |
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ISO ISS |
OMIM:164500 ClinVar Annotator: match by term: Spinocerebellar ataxia 7 |
OMIM MouseDO ClinVar |
PMID:25741868 |
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NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106
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Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
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ISO ISS |
OMIM:607250 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |
OMIM MouseDO CTD ClinVar |
PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 PMID:24355542 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29641532 PMID:31130284 PMID:31182267 PMID:32371905 More...
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NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
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Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 PMID:15732101 PMID:16644229 PMID:17096168 PMID:17159128 PMID:17576681 PMID:17720498 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19377860 PMID:19569000 PMID:19696032 PMID:19744353 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23566282 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24105744 PMID:24244371 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25326635 PMID:25353622 PMID:25382069 PMID:25525159 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28245518 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29482223 PMID:29525178 PMID:29650794 PMID:30198223 PMID:30220148 PMID:30564185 PMID:31325016 PMID:31429931 PMID:31589614 PMID:31692161 PMID:31957062 PMID:32028661 PMID:32166880 PMID:32253937 PMID:32397312 PMID:32409511 PMID:32729724 PMID:33098801 PMID:33770234 PMID:33956305 PMID:35309588 More...
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Coa7 |
cytochrome c oxidase assembly factor 7 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
OMIM ClinVar |
PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 |
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NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199
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