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G |
Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr18:60,954,268...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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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:28492532 PMID:35401678 |
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NCBI chr 7:113,108,476...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 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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G |
Ttbk2 |
tau tubulin kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia |
ClinVar |
PMID:25741868 |
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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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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: CACNA1G-related disorders | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 |
OMIM MouseDO ClinVar |
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 PMID:29629410 PMID:29878067 PMID:32736238 PMID:32860008 PMID:32878331 More...
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NCBI chr10:79,354,998...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 |
|
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 |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
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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G |
Becn1 |
beclin 1 |
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ISO |
protein:decreased expression:brain protein:decreased expression:fibroblast |
RGD |
PMID:21478185 PMID:21478185 |
RGD:6483072, RGD:6483072 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
S100b |
S100 calcium binding protein B |
|
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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G |
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 |
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 |
OMIM ClinVar |
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 |
Pramef12 |
PRAME family member 12 |
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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 5:156,193,666...156,197,199
Ensembl chr 5:156,193,745...156,197,195
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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 |
Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A |
OMIM ClinVar |
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 |
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ISO |
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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 |
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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:26456284 PMID:26715324 PMID:28490766 PMID:28492532 PMID:29629410 PMID:29878067 PMID:30792901 PMID:31217264 PMID:31836334 PMID:32736238 PMID:32878331 PMID:34248568 PMID:38003592 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 |
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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 |
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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 |
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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 |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 45 |
ClinVar |
PMID:11865300 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16237213 PMID:17960613 PMID:18176756 PMID:18313410 PMID:20618355 PMID:21445611 PMID:21733559 PMID:22127509 PMID:22677546 PMID:25741868 PMID:26237645 PMID:26467025 PMID:28492532 PMID:29456767 PMID:31831373 PMID:33167498 More...
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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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 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 49 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29146900 PMID:30322869 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 |
Thap11 |
THAP domain containing 11 |
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ISO |
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OMIM |
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NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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Atxn1 |
ataxin 1 |
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ISO ISS |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 OMIM:164400 |
OMIM ClinVar MouseDO |
PMID:25741868 PMID:37091313 |
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NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360
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Atxn10 |
ataxin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 |
OMIM CTD ClinVar |
PMID:25741868 |
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NCBI chr 7:116,441,768...116,565,093
Ensembl chr 7:116,441,613...116,565,087
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Ttbk2 |
tau tubulin kinase 2 |
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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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Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
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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 |
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NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
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Kcnc3 |
potassium voltage-gated channel subfamily C member 3 |
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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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Prkcg |
protein kinase C, gamma |
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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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Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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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:15623688 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:35351177 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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G |
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 |
susceptibility |
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:34440436 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:31111429 PMID:31327635 PMID:31589614 PMID:32237276 PMID:33841295 PMID:33956305 PMID:34333379 PMID:34418069 PMID:34445196 PMID:35869996 PMID:37332640 PMID:37804316 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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Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 4 |
ClinVar |
PMID:25741868 PMID:35151251 |
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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 |
Zfhx3 |
zinc finger homeobox 3 |
susceptibility |
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:23042809 PMID:25062847 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29225145 More...
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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:25401298 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 |
OMIM:183086 ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 |
OMIM MouseDO ClinVar |
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:20129625 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:33397523 PMID:33425808 PMID:33737904 PMID:33790770 PMID:33798445 PMID:34102571 PMID:34356170 PMID:34445196 PMID:34806130 PMID:35395208 PMID:35401678 PMID:35722745 PMID:36530930 PMID:37091313 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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G |
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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