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G |
Exosc3 |
exosome component 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22544365 |
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NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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Vrk1 |
VRK serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
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Chmp1a |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Vrk1 |
VRK serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19646678 PMID:19763152 PMID:20307669 PMID:21543316 PMID:21920476 PMID:21937992 PMID:22406018 PMID:24088041 PMID:24126608 PMID:25356970 PMID:25741868 PMID:26467025 PMID:26583493 PMID:26633545 PMID:27281532 PMID:28492532 PMID:30108342 PMID:30617279 PMID:30847374 PMID:31090908 PMID:31167812 PMID:31178479 PMID:31527692 PMID:31560180 PMID:31837156 PMID:32242460 PMID:32266931 PMID:32298515 PMID:32365420 PMID:33516791 PMID:34169149 PMID:35390161 PMID:35641352 More...
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NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
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Ampd2 |
adenosine monophosphate deaminase 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:23911318 PMID:25741868 PMID:28492532 PMID:34826127 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
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Chmp1a |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Clp1 |
cleavage factor polyribonucleotide kinase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
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NCBI chr 3:69,806,774...69,818,633
Ensembl chr 3:69,806,778...69,810,421
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Exosc3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:18414213 PMID:22544365 PMID:23284067 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24033266 PMID:24524299 PMID:24970098 PMID:25149867 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25809939 PMID:27146152 PMID:27777260 PMID:28053271 PMID:28492532 PMID:28687512 PMID:29186371 PMID:29444210 PMID:29656927 PMID:30221345 PMID:30986545 PMID:31692161 PMID:31980526 PMID:33462000 PMID:36004024 More...
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NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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Rars2 |
arginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:2706168 PMID:16199547 PMID:17847012 PMID:20635367 PMID:20952379 PMID:22086604 PMID:22569581 PMID:24033266 PMID:25356970 PMID:25533962 PMID:25741868 PMID:26083569 PMID:26539891 PMID:26795593 PMID:26968897 PMID:26970947 PMID:27061686 PMID:27290639 PMID:27683254 PMID:28492532 PMID:29881806 PMID:31102535 PMID:31216405 PMID:31429931 PMID:31474318 PMID:31980526 PMID:32071833 PMID:32725632 PMID:32860008 PMID:33798445 PMID:33926074 PMID:33972171 PMID:34085948 PMID:34717047 PMID:34869784 More...
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NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
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Sepsecs |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20920667 PMID:23052947 PMID:23275319 PMID:24305467 PMID:25741868 PMID:25880436 PMID:26888482 PMID:27175728 PMID:27473727 PMID:27576344 PMID:28492532 PMID:29709707 PMID:31589614 PMID:31748115 PMID:32555262 PMID:33600046 PMID:34234304 PMID:35012964 PMID:35155316 PMID:36085396 More...
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NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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Slc35a1 |
solute carrier family 35 member A1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:49,225,599...49,248,382
Ensembl chr 5:49,225,602...49,248,335
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Tbc1d23 |
TBC1 domain family, member 23 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:28823707 |
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NCBI chr11:43,303,355...43,361,507
Ensembl chr11:43,303,355...43,361,503
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Tsen2 |
tRNA splicing endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:16199547 PMID:18414213 PMID:18711368 PMID:20301773 PMID:20952379 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
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Tsen34 |
tRNA splicing endonuclease subunit 34 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
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Tsen54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:9536098 PMID:16470708 PMID:17576681 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:23757202 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26701950 PMID:27430971 PMID:27570394 PMID:27884173 PMID:28492532 PMID:29302074 PMID:29410950 PMID:30315573 PMID:32214227 PMID:32404165 PMID:34580403 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Vps53 |
VPS53 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24577744 PMID:25741868 PMID:28492532 PMID:30100179 More...
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NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
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Vrk1 |
VRK serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
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G |
Exosc8 |
exosome component 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C |
OMIM CTD ClinVar |
PMID:24989451 PMID:25741868 PMID:28492532 |
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NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928
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Exosc9 |
exosome component 9 |
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ISO |
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 PMID:30690203 PMID:33040083 PMID:34782754 More...
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NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051
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Slc25a46 |
solute carrier family 25, member 46 |
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ISO |
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E |
OMIM ClinVar |
PMID:8147499 PMID:16199547 PMID:25741868 PMID:26168012 PMID:26951855 PMID:27390132 PMID:27543974 PMID:28369803 PMID:28492532 PMID:28558379 PMID:28637197 PMID:28653766 PMID:33816684 More...
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NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
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G |
Exosc1 |
exosome component 1 |
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ISO |
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F |
OMIM ClinVar |
PMID:33463720 |
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NCBI chr 1:240,734,777...240,745,431
Ensembl chr 1:240,734,773...240,745,438
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