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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hypomyelinating leukodystrophy
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Accession:DOID:0060786 term browser browse the term
Definition:A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)
Synonyms:exact_synonym: HLD
 xref: OMIM:PS312080



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hypomyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:33260297 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 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 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C 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 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes 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 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi 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 NCBI chr 1:143,825,399...143,849,361
Ensembl chr 1:143,825,923...143,849,363
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 More... 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
JBrowse link
hypomyelinating leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
hypomyelinating leukodystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 OMIM
ClinVar
PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 More... NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
JBrowse link
hypomyelinating leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29215095 NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
JBrowse link
hypomyelinating leukodystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664
JBrowse link
hypomyelinating leukodystrophy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63a transmembrane protein 63a 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 NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Gjc2 gap junction protein, gamma 2 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 More... 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
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar
PMID:25741868 PMID:32128616 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
JBrowse link
hypomyelinating leukodystrophy 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 OMIM
ClinVar
PMID:25741868 PMID:30584594 NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040
JBrowse link
hypomyelinating leukodystrophy 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 OMIM
ClinVar
PMID:25741868 PMID:33313762 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
JBrowse link
hypomyelinating leukodystrophy 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf220 ring finger protein 220 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 NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
JBrowse link
hypomyelinating leukodystrophy 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 OMIM
ClinVar
PMID:34403372 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
JBrowse link
hypomyelinating leukodystrophy 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem163 transmembrane protein 163 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 OMIM
ClinVar
PMID:25741868 PMID:35455965 PMID:35953447 NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452
JBrowse link
hypomyelinating leukodystrophy 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar
OMIM
PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234
JBrowse link
Hypomyelinating Leukodystrophy 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO OMIM NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 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 More... NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 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 More... RGD:12910473 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 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 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa 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 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Polr3a RNA polymerase III subunit A 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 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B 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 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Rps24 ribosomal protein S24 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 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B 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 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 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 More... NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,449,298...100,454,452 JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Plp1 proteolipid protein 1 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 More... RGD:1358783, RGD:1358559 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Rab9b RAB9B, member RAS oncogene family 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 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353
JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543
JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710
JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          Nervous System Heredodegenerative Disorders 3232
            Hereditary Central Nervous System Demyelinating Diseases 111
              hypomyelinating leukodystrophy 60
                Hypomyelinating Leukodystrophy 27 1
                Pelizaeus-Merzbacher disease + 17
                hypomyelinating leukodystrophy 10 1
                hypomyelinating leukodystrophy 11 1
                hypomyelinating leukodystrophy 12 1
                hypomyelinating leukodystrophy 13 1
                hypomyelinating leukodystrophy 14 1
                hypomyelinating leukodystrophy 15 1
                hypomyelinating leukodystrophy 16 1
                hypomyelinating leukodystrophy 17 2
                hypomyelinating leukodystrophy 18 1
                hypomyelinating leukodystrophy 19 1
                hypomyelinating leukodystrophy 2 3
                hypomyelinating leukodystrophy 20 1
                hypomyelinating leukodystrophy 21 1
                hypomyelinating leukodystrophy 22 1
                hypomyelinating leukodystrophy 23 1
                hypomyelinating leukodystrophy 24 1
                hypomyelinating leukodystrophy 25 1
                hypomyelinating leukodystrophy 26 2
                hypomyelinating leukodystrophy 3 1
                hypomyelinating leukodystrophy 4 2
                hypomyelinating leukodystrophy 5 7
                hypomyelinating leukodystrophy 6 1
                hypomyelinating leukodystrophy 7 4
                hypomyelinating leukodystrophy 8 3
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            Metabolic Brain Diseases 1455
              Metabolic Brain Diseases, Inborn 1323
                Hereditary Central Nervous System Demyelinating Diseases 111
                  hypomyelinating leukodystrophy 60
                    Hypomyelinating Leukodystrophy 27 1
                    Pelizaeus-Merzbacher disease + 17
                    hypomyelinating leukodystrophy 10 1
                    hypomyelinating leukodystrophy 11 1
                    hypomyelinating leukodystrophy 12 1
                    hypomyelinating leukodystrophy 13 1
                    hypomyelinating leukodystrophy 14 1
                    hypomyelinating leukodystrophy 15 1
                    hypomyelinating leukodystrophy 16 1
                    hypomyelinating leukodystrophy 17 2
                    hypomyelinating leukodystrophy 18 1
                    hypomyelinating leukodystrophy 19 1
                    hypomyelinating leukodystrophy 2 3
                    hypomyelinating leukodystrophy 20 1
                    hypomyelinating leukodystrophy 21 1
                    hypomyelinating leukodystrophy 22 1
                    hypomyelinating leukodystrophy 23 1
                    hypomyelinating leukodystrophy 24 1
                    hypomyelinating leukodystrophy 25 1
                    hypomyelinating leukodystrophy 26 2
                    hypomyelinating leukodystrophy 3 1
                    hypomyelinating leukodystrophy 4 2
                    hypomyelinating leukodystrophy 5 7
                    hypomyelinating leukodystrophy 6 1
                    hypomyelinating leukodystrophy 7 4
                    hypomyelinating leukodystrophy 8 3
                    hypomyelinating leukodystrophy 9 1
paths to the root