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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant ClinVar Annotator: match by OMIM:604121 |
OMIM ClinVar |
PMID:8747854 PMID:22328086 PMID:25741868 |
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NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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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 41 |
OMIM ClinVar |
PMID:25477146 |
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NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 42 |
ClinVar OMIM |
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28492532 PMID:32860008 |
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NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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G |
Mme |
membrane metallo-endopeptidase |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 43 |
ClinVar OMIM |
PMID:25741868 PMID:27583304 |
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NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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G |
Pum1 |
pumilio RNA-binding family member 1 |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 |
ClinVar OMIM |
PMID:25741868 PMID:29474920 |
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NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
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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:30381368 PMID:32488064 |
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NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
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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 |
ClinVar OMIM |
PMID:30381368 PMID:32488064 |
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NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
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G |
Atn1 |
atrophin 1 |
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ISO |
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OMIM |
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NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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G |
Atxn3 |
ataxin 3 |
susceptibility treatment |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Azorean disease protein:increased degradation, altered localization:neuron, nucleus |
CTD OMIM ClinVar |
PMID:31378764, PMID:7874163, PMID:20308049, PMID:9804376, PMID:18385100, PMID:18841197 |
RGD:1599419, RGD:11557997, RGD:11557998, RGD:5131159, RGD:11558010 |
NCBI chr 6:125,817,420...125,853,461
Ensembl chr 6:125,819,640...125,853,461
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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 chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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G |
S100b |
S100 calcium binding protein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21743141 |
RGD:5508762 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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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 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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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 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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G |
Aadacl3 |
arylacetamide deacetylase-like 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,323,373...162,332,014
Ensembl chr 5:162,323,373...162,331,598
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G |
Aadacl4 |
arylacetamide deacetylase-like 4 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,676,109...162,688,907
Ensembl chr 5:162,676,100...162,688,935
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G |
Camta1 |
calmodulin binding transcription activator 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
OMIM ClinVar |
PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29389947 |
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NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
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G |
Dhrs3 |
dehydrogenase/reductase 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,809,090...162,843,385
Ensembl chr 5:162,808,646...162,843,383
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G |
LOC691162 |
hypothetical protein LOC691162 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,351,021...162,369,987
Ensembl chr 5:162,351,001...162,369,990
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G |
Miip |
migration and invasion inhibitory protein |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:164,672,464...164,679,503
Ensembl chr 5:164,672,471...164,679,654
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G |
Nid1 |
nidogen 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr17:90,553,161...90,627,133
Ensembl chr17:90,553,394...90,627,101
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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G |
Pramef12 |
PRAME family member 12 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,378,442...162,388,786
Ensembl chr 5:162,385,173...162,388,620
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G |
Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
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G |
Slc9a1 |
solute carrier family 9 member A1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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G |
Smyd3 |
SET and MYND domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr13:97,330,120...97,807,813
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS |
ClinVar OMIM |
PMID:25741868 PMID:29878067 |
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NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 44 |
ClinVar OMIM |
PMID:28886343 |
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NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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G |
Fat2 |
FAT atypical cadherin 2 |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 |
ClinVar OMIM |
PMID:20301317 PMID:25741868 PMID:29053796 PMID:29847346 |
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NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
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G |
Slc36a1 |
solute carrier family 36 member 1 |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 |
ClinVar |
PMID:20301317 PMID:25741868 PMID:29053796 PMID:29847346 |
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NCBI chr10:40,538,013...40,573,304
Ensembl chr10:40,543,288...40,574,444
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 |
ClinVar OMIM |
PMID:8595484 PMID:24011642 PMID:25741868 PMID:29053796 |
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NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
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G |
Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 |
ClinVar |
PMID:24011642 PMID:25741868 |
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NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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G |
Atxn1 |
ataxin 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 1 |
ClinVar OMIM |
PMID:25741868 |
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NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
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G |
Atxn10 |
ataxin 10 |
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ISO |
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OMIM |
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NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
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G |
Ttbk2 |
tau tubulin kinase 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 ClinVar Annotator: match by term: Spinocerebellar ataxia 11 |
OMIM ClinVar |
PMID:18037885 PMID:19533200 PMID:20301723 PMID:24808823 PMID:25741868 PMID:26063658 PMID:26467025 PMID:28492532 |
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NCBI chr 3:112,677,932...112,789,615
Ensembl chr 3:112,684,152...112,789,289
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
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ISO |
ClinVar Annotator: match by term: PPP2R2B-Related Disorder ClinVar Annotator: match by term: Spinocerebellar ataxia 12 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
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G |
Kcnc3 |
potassium voltage-gated channel subfamily C member 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 ClinVar Annotator: match by term: Spinocerebellar ataxia 13 ClinVar Annotator: match by OMIM:605259 |
OMIM ClinVar |
PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 PMID:20712895 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:26467025 PMID:28216058 PMID:28467418 PMID:28492532 |
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NCBI chr 1:100,593,453...100,607,874
Ensembl chr 1:100,593,680...100,607,874
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G |
Prkcg |
protein kinase C, gamma |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 ClinVar Annotator: match by term: Spinocerebellar ataxia 14 ClinVar Annotator: match by OMIM:605361 |
OMIM 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:17562946 PMID:17659643 PMID:18005063 PMID:18499672 PMID:18577575 PMID:19561170 PMID:20301573 PMID:21434874 PMID:21666345 PMID:21937992 PMID:24134140 PMID:24744737 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28738819 PMID:30093405 PMID:30363848 |
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NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
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G |
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 16 ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar Annotator: match by term: Spinocerebellar ataxia 15 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human) |
ClinVar CTD OMIM |
PMID:14981189 PMID:17932120 PMID:18579805 PMID:20669319 PMID:21681106 PMID:22986007 PMID:25741868 PMID:26467025 PMID:28492532, PMID:21555639, PMID:20082166 |
RGD:6480683, RGD:6480871 |
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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G |
Setmar |
SET domain and mariner transposase fusion gene |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 15 |
ClinVar |
PMID:17932120 PMID:20669319 PMID:21681106 |
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NCBI chr 4:140,092,346...140,104,495
Ensembl chr 4:140,092,352...140,105,316
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G |
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 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
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 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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G |
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 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
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G |
Hyou1 |
hypoxia up-regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
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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 chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413982 |
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NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
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G |
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 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
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G |
Tbp |
TATA box binding protein |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 17 |
OMIM ClinVar |
PMID:25741868, PMID:23699518 |
RGD:9681730 |
NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar Annotator: match by OMIM:607346 |
OMIM ClinVar |
PMID:11284128 PMID:21349352 PMID:22402074 PMID:22457051 PMID:22840528 PMID:23280838 PMID:23838598 PMID:23963749 PMID:25175087 PMID:25410959 PMID:25741868 PMID:25741869 PMID:26016905 PMID:26467025 PMID:26633542 PMID:28074886 PMID:28341588 PMID:28492532 PMID:29482223 PMID:30776697 |
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NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
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G |
Lama4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 19 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
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G |
Atxn2 |
ataxin 2 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 2 |
OMIM ClinVar |
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NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
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G |
Scyl1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 21 |
ClinVar |
PMID:26581903 PMID:30531813 |
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NCBI chr 1:221,115,992...221,129,668
Ensembl chr 1:221,115,860...221,129,654
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 21 ClinVar Annotator: match by OMIM:607454 |
OMIM ClinVar |
PMID:11160961 PMID:25070513 PMID:25741868 |
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NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
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G |
Pdyn |
prodynorphin |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 ClinVar Annotator: match by term: Spinocerebellar ataxia 23 ClinVar Annotator: match by OMIM:610245 |
OMIM ClinVar |
PMID:21035104 PMID:23108490 PMID:23471613 PMID:25741868 PMID:26467025 PMID:27528516 PMID:28492532 |
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NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
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ISO |
ClinVar Annotator: match by OMIM:609306 |
OMIM ClinVar |
PMID:15732118 PMID:23001565 |
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NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
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G |
Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar Annotator: match by term: Spinocerebellar ataxia 27 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:609307 |
OMIM ClinVar CTD |
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 |
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NCBI chr15:110,382,274...111,077,027
Ensembl chr15:110,385,217...110,612,681
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Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar Annotator: match by term: Spinocerebellar ataxia 28 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) ClinVar Annotator: match by OMIM:610246 |
OMIM ClinVar |
PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25741868 PMID:25741869 PMID:26467025 PMID:28492532 PMID:31111429, PMID:24814845, PMID:26868664, PMID:20354562, PMID:20208537, PMID:20725928, PMID:25485680 |
RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 |
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
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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:28492532 |
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NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
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Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:25741868 PMID:30311386 |
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NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:24886560 PMID:26092869 |
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NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590 Ensembl chr10:47,785,033...47,792,590
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:30311386 |
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NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:17964524 PMID:19466712 PMID:19764032 PMID:20079931 PMID:20683928 PMID:20690115 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23559409 PMID:24265693 PMID:24850569 PMID:25377065 PMID:25741868 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:30311386 |
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NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Cplane1 |
ciliogenesis and planar polarity effector 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:25741868 PMID:26092869 PMID:30311386 |
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NCBI chr 2:57,274,175...57,350,003 NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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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 ClinVar Annotator: match by term: Spinocerebellar ataxia 29 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10664581 PMID:15623688 PMID:22986007 PMID:23806086 PMID:24088041 PMID:24091540 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25794864 PMID:25981959 PMID:26257172 PMID:26467025 PMID:27062503 PMID:28488678 PMID:28492532 PMID:28659154 PMID:28826917 PMID:29389947 PMID:29925855 |
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NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:17185389 PMID:17397051 PMID:23351400 PMID:28492532 |
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NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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Ofd1 |
OFD1, centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:29,562,165...29,602,934
Ensembl chr X:29,562,165...29,602,925
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 |
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NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 |
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NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Cerebellar vermis aplasia |
ClinVar |
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 PMID:30311386 |
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NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Bean1 |
brain expressed, associated with NEDD4, 1 |
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ISO |
ClinVar Annotator: match by null |
ClinVar OMIM |
PMID:19878914 |
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NCBI chr19:947,862...993,467
Ensembl chr19:949,607...983,556
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Plekhg4 |
pleckstrin homology and RhoGEF domain containing G4 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 16q22-linked |
ClinVar |
PMID:16001362 PMID:16614795 PMID:16780885 |
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NCBI chr19:37,327,395...37,345,047
Ensembl chr19:37,330,930...37,345,040
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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 |
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NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
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Tgm6 |
transglutaminase 6 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 35 ClinVar Annotator: match by OMIM:613908 |
OMIM ClinVar |
PMID:21106500 PMID:22554020 PMID:25253745 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28934387 PMID:30670339 |
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NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
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Nop56 |
NOP56 ribonucleoprotein |
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ISO |
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OMIM |
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NCBI chr 3:122,803,726...122,808,564
Ensembl chr 3:122,803,772...122,808,558
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Dab1 |
DAB adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 37 |
OMIM ClinVar |
PMID:23700170 PMID:28686858 PMID:29939198 |
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NCBI chr 5:123,154,360...124,279,170
Ensembl chr 5:123,905,166...124,280,115
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Elovl5 |
ELOVL fatty acid elongase 5 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 38 |
OMIM ClinVar |
PMID:25065913 PMID:25741868 PMID:31294938 |
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NCBI chr 8:85,220,941...85,287,449
Ensembl chr 8:85,259,982...85,285,983
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Plekhg4 |
pleckstrin homology and RhoGEF domain containing G4 |
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ISO |
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OMIM |
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NCBI chr19:37,327,395...37,345,047
Ensembl chr19:37,330,930...37,345,040
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Ccdc88c |
coiled-coil domain containing 88C |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 40 |
OMIM ClinVar |
PMID:25062847 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
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Sptbn2 |
spectrin, beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 ClinVar Annotator: match by term: Spinocerebellar ataxia 5 |
OMIM ClinVar |
PMID:16429157 PMID:20603325 PMID:22843192 PMID:22914369 PMID:25741868 PMID:25741869 PMID:25981959 PMID:26467025 PMID:28492532 PMID:29389947 PMID:31066025 PMID:31721007 |
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NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 ClinVar Annotator: match by term: Spinocerebellar ataxia 6 |
OMIM ClinVar |
PMID:8898206 PMID:9345107 PMID:9488686 PMID:9915947 PMID:10024348 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15240985 PMID:15452324 PMID:15795222 PMID:15985579 PMID:16325861 PMID:17142831 PMID:18056581 PMID:18354422 PMID:19811514 PMID:20097664 PMID:20301674 PMID:21183743 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22969264 PMID:23831250 PMID:24270521 PMID:24486772 PMID:24498617 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25481746 PMID:25596066 PMID:25741868 PMID:25758715 PMID:25969684 PMID:26467025 PMID:26814174 PMID:27290639 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28742085 PMID:29053796 PMID:29056246 PMID:29100083 PMID:30283815 PMID:30311386 PMID:31468518 PMID:31487502 PMID:97053792 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Atxn7 |
ataxin 7 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia 7 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
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