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Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 PMID:28842795 |
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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Eif2b5 |
eukaryotic translation initiation factor 2B subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
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NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Kars1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 PMID:33260297 |
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NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 PMID:28842795 |
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Pycr2 |
pyrroline-5-carboxylate reductase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 |
OMIM CTD ClinVar |
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 |
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NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:29644095 PMID:30311386 PMID:30505682 PMID:30957429 PMID:31019026 PMID:32042905 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 More...
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 |
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NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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Hikeshi |
heat shock protein nuclear import factor hikeshi |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665 |
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NCBI chr 1:143,825,399...143,849,361
Ensembl chr 1:143,825,923...143,849,363
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Ufm1 |
ubiquitin-fold modifier 1 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 PMID:34573312 More...
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NCBI chr 2:137,969,476...137,977,620
Ensembl chr 2:137,966,678...137,978,089 Ensembl chr 2:137,966,678...137,978,089
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Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Tmem106b |
transmembrane protein 106B |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 |
OMIM ClinVar |
PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 PMID:28492532 PMID:29186371 PMID:29194508 PMID:29444210 PMID:32572497 PMID:32595021 More...
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NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
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Aimp2 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29215095 |
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NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769
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Eif2ak1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 |
ClinVar |
PMID:25741868 |
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NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
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Degs1 |
delta(4)-desaturase, sphingolipid 1 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 |
OMIM ClinVar |
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 |
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NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664
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Tmem63a |
transmembrane protein 63a |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:31587869 PMID:33785861 |
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NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
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Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 |
ClinVar |
PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 PMID:17622945 PMID:25741868 PMID:28302372 PMID:28492532 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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Gjc2 |
gap junction protein, gamma 2 |
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ISO ISS |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 OMIM:608804 DNA:mutations:multiple (human) DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human) DNA:missense mutation:cds:p.M282T (mouse) DNA:snp:5' utr:c.-167A>G (human) DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25059390 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:29906362 PMID:31028937 PMID:31912665 PMID:32488064 PMID:32581362 PMID:33190326 PMID:34055681 PMID:34445196 PMID:35807022 PMID:18094336 PMID:16707726 PMID:21750683 PMID:21959080 PMID:15192806 More...
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RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Snap29 |
synaptosome associated protein 29 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 |
ClinVar |
PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 PMID:31748968 PMID:33977139 More...
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NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 |
OMIM ClinVar |
PMID:25741868 PMID:32128616 |
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NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Polr3k |
RNA polymerase III subunit K |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 |
OMIM ClinVar |
PMID:25741868 PMID:30584594 |
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NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040
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Cldn11 |
claudin 11 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 |
OMIM ClinVar |
PMID:25741868 PMID:33313762 |
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NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
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Rnf220 |
ring finger protein 220 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy |
OMIM ClinVar |
PMID:10881263 PMID:33964137 PMID:36083980 |
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NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
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Atp11a |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 |
OMIM ClinVar |
PMID:34403372 |
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NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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Tmem163 |
transmembrane protein 163 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 |
OMIM ClinVar |
PMID:25741868 PMID:35455965 PMID:35953447 |
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NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452
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Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia |
ClinVar |
PMID:35325049 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Slc35b2 |
solute carrier family 35 member B2 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia |
ClinVar OMIM |
PMID:35325049 |
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NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234
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G |
Polr1a |
RNA polymerase I subunit A |
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ISO |
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OMIM |
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NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
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Aimp1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30486714 PMID:30828585 PMID:30924036 PMID:31618474 PMID:32531460 More...
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NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 DNA:mutation:exon: g.1512A>G(p.D29G)(human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 PMID:18571143 More...
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RGD:12910473 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 |
ClinVar |
PMID:29389947 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Cdca7l |
cell division cycle associated 7 like |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Hycc1 |
hyccin PI4KA lipid kinase complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17928815 PMID:18022865 PMID:20301737 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
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Il6 |
interleukin 6 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Rapgef5 |
Rap guanine nucleotide exchange factor 5 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
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Sp4 |
Sp4 transcription factor |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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Tomm7 |
translocase of outer mitochondrial membrane 7 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Tubb4a |
tubulin, beta 4A class IVa |
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ISO ISS |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 OMIM:612438 |
OMIM ClinVar MouseDO |
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23190606 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25697102 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:26795593 PMID:27538619 PMID:28275661 PMID:28492532 PMID:28592043 PMID:28791129 PMID:28973395 PMID:29451896 PMID:30079973 PMID:31692161 PMID:32581362 PMID:33027950 PMID:33597727 PMID:34514881 More...
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NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
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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 |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:34284285 PMID:34589056 PMID:36344503 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Polr3b |
RNA polymerase III subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
CTD ClinVar |
PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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G |
Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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G |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome |
ClinVar |
PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 PMID:26204956 PMID:26478204 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:29141312 PMID:30548255 PMID:31221184 PMID:31969655 PMID:32180488 PMID:32319736 PMID:32342562 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome |
ClinVar |
PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 |
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Rars1 |
arginyl-tRNA synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 |
OMIM CTD ClinVar |
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30791064 PMID:31737794 PMID:31814314 PMID:33515434 More...
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NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
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Bex1 |
brain expressed X-linked 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,219,014...99,220,518
Ensembl chr X:99,219,014...99,220,958
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Bex3 |
brain expressed X-linked 3 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800
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Esx1 |
ESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chr X:100,449,298...100,454,452
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Fam199x |
family with sequence similarity 199, X-linked |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chr X:100,384,230...100,419,935
Ensembl chr X:100,384,225...100,414,938
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Gjc2 |
gap junction protein, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 |
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NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Il1rapl2 |
interleukin 1 receptor accessory protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chr X:100,961,509...102,271,753
Ensembl chr X:100,961,812...102,271,753
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Lmnb1 |
lamin B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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Plp1 |
proteolipid protein 1 |
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ISO ISS |
DNA:missense mutation:cds:p.A246T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild OMIM:312080 |
OMIM CTD ClinVar MouseDO RGD |
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22343157 PMID:22695888 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 PMID:14572140 PMID:10425042 More...
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RGD:1358783, RGD:1358559 |
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild |
ClinVar |
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:18835559 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22343157 PMID:22695888 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 More...
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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Slc25a53 |
solute carrier family 25, member 53 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chr X:100,306,917...100,319,662
Ensembl chr X:100,306,915...100,319,863
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Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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Tceal3 |
transcription elongation factor A like 3 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
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NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
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Tceal5 |
transcription elongation factor A like 5 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,204,422...99,207,373
Ensembl chr X:99,204,429...99,207,353
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Tceal7 |
transcription elongation factor A like 7 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,228,405...99,230,551
Ensembl chr X:99,228,458...99,230,543
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Tceal8 |
transcription elongation factor A like 8 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,171,307...99,173,377
Ensembl chr X:99,171,177...99,173,710
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Tceal9 |
transcription elongation factor A like 9 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chr X:99,245,645...99,247,720
Ensembl chr X:99,228,458...99,247,763
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