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: Hereditary Central Nervous System Demyelinating Diseases
Accession: DOID:9008095
browse the term
Definition: Inherited conditions characterized by a loss of MYELIN in the central nervous system.
Synonyms: exact_synonym: leucodystrophy
primary_id: MESH:D020279
alt_id: OMIA:001130
For additional species annotation, visit the
Alliance of Genome Resources .
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
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Psap
prosaposin
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar Annotator: match by term: Combined saposin deficiency ClinVar Annotator: match by OMIM:611721 ClinVar Annotator: match by null
OMIM ClinVar
PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 PMID:2302219 PMID:2320574 PMID:2514102 PMID:8370580 PMID:8554069 PMID:10196694 PMID:10682309 PMID:11309366 PMID:17561962 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:25741868 PMID:28459997 PMID:30847471 PMID:31637490
NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956
NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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Slc25a12
solute carrier family 25 member 12
ISO
ClinVar Annotator: match by term: Hypomyelination, global cerebral ClinVar Annotator: match by OMIM:612949
OMIM ClinVar
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532
NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
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Pycr2
pyrroline-5-carboxylate reductase 2
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10
OMIM ClinVar
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360
NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11
OMIM ClinVar
PMID:610060 PMID:11013442 PMID:21131976 PMID:25741868 PMID:26151409 PMID:28327206 PMID:29567474
NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12
OMIM ClinVar
PMID:25741868 PMID:26307567 PMID:27120463 PMID:32316234
NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
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Hikeshi
heat shock protein nuclear import factor
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13
ClinVar OMIM
PMID:26545878
NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
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Ufm1
ubiquitin-fold modifier 1
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14
ClinVar OMIM
PMID:25741868 PMID:28931644 PMID:29868776 PMID:30311386 PMID:32860008
NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412
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Eprs
glutamyl-prolyl-tRNA synthetase
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15
ClinVar OMIM
PMID:25741868 PMID:29576217
NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
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Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16
ClinVar OMIM
PMID:25741868 PMID:29186371 PMID:29444210
NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169
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Aimp2
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17
ClinVar OMIM
PMID:29215095
NCBI chr12:12,738,784...12,748,345
Ensembl chr12:12,738,812...12,748,345
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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 chr13:100,665,265...100,672,731
Ensembl chr13:100,666,075...100,672,731
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Tmem63a
transmembrane protein 63a
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
OMIM ClinVar
PMID:25741868 PMID:31587869
NCBI chr13:99,219,585...99,253,176
Ensembl chr13:99,220,510...99,253,316
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Gjc2
gap junction protein, gamma 2
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 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 ClinVar Annotator: match by OMIM:608804 ClinVar Annotator: match by null
OMIM ClinVar CTD
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:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064 , PMID:18094336 , PMID:16707726 , PMID:21750683 , PMID:21959080 , PMID:15192806
RGD:13208581 , RGD:13208580 , RGD:13208533 , RGD:13208526 , RGD:13208525
NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
ClinVar
PMID:25356970
NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 20
OMIM ClinVar
PMID:32128616
NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
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Aimp1
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3 ClinVar Annotator: match by OMIM:260600
OMIM ClinVar
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172
NCBI chr 2:237,727,782...237,751,327
Ensembl chr 2:237,727,764...237,751,378
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 DNA:mutation:exon: g.1512A>G(p.D29G)(human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18571143 PMID:25741868 PMID:27405012 , PMID:18571143
RGD:12910473
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
ClinVar
PMID:29389947
NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Fam126a
family with sequence similarity 126, member A
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar Annotator: match by OMIM:610532
OMIM ClinVar
PMID:16951682 PMID:17928815 PMID:21911699 PMID:25741868 PMID:28492532
NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
ClinVar OMIM
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 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:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:28492532 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362
NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar
PMID:25741868
NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar Annotator: match by term: Leukodystrophy with oligodontia ClinVar Annotator: match by OMIM:607694
OMIM ClinVar
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 PMID:22036171 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27521716 PMID:27535217 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008
NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Pol III-related leukodystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956
NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar
PMID:25741868 PMID:27029625
NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar
PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 PMID:23960188 PMID:24390236 PMID:25186627 PMID:25231023 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26787654 PMID:27153395 PMID:27443514 PMID:27595995 PMID:27878467 PMID:28492532 PMID:28553140 PMID:28828701 PMID:29335925 PMID:30851065
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism ClinVar Annotator: match by OMIM:614381
OMIM ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013 PMID:28492532
NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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Rars1
arginyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9 ClinVar Annotator: match by OMIM:616140
OMIM ClinVar
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30311386 PMID:30791064
NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by OMIM:615281 ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
OMIM ClinVar
PMID:23643384 PMID:25741868
NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
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Galc
galactosylceramidase
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar Annotator: match by OMIM:245200
OMIM ClinVar
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16607461 PMID:16759875 PMID:17579360 PMID:17824908 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30311386 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:32576985 PMID:32860008 , PMID:2120388
RGD:38599167
NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
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Psap
prosaposin
ISO ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency OMIM:245200 ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar
PMID:25741868
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
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Psap
prosaposin
ISO
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar Annotator: match by OMIM:611722
OMIM ClinVar
PMID:15773042 PMID:25741868 PMID:28492532
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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Lmnb1
lamin B1
ISO
DNA:duplication:cds (human) ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar OMIM
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532 , PMID:16951681
RGD:10044243
NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
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Hepacam
hepatic and glial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:21419380 PMID:25741868 PMID:28492532
NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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Mlc1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by OMIM:604004 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11254442 PMID:25741868
NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
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Hepacam
hepatic and glial cell adhesion molecule
ISS ISO
OMIM:604004 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO ClinVar
PMID:25741868 PMID:29389947
NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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Mlc1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
ClinVar OMIM
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15992519 PMID:16470554 PMID:16652334 PMID:18757878 PMID:19168821 PMID:20301707 PMID:20560255 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22328087 PMID:22405205 PMID:22416245 PMID:23793458 PMID:23851226 PMID:25497041 PMID:25741868 PMID:25767710 PMID:26349194 PMID:27081509 PMID:27322623 PMID:28492532 PMID:28588848
NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
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Hepacam
hepatic and glial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a ClinVar Annotator: match by OMIM:613925
OMIM ClinVar
PMID:21419380 PMID:25741868 PMID:30311386
NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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Hepacam
hepatic and glial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation ClinVar Annotator: match by OMIM:613926
OMIM ClinVar
PMID:20517947 PMID:21419380 PMID:25741868
NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar Annotator: match by OMIM:250100 ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult, UMLS MESH term: Adult-Type Metachromatic Leukodystrophies ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile
ClinVar OMIM
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17438611 PMID:17560502 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28762252 PMID:29544907 PMID:29966168 PMID:30057904 PMID:30293248 PMID:30311386 PMID:30828547 PMID:31694723 PMID:32632536 PMID:32860008 , PMID:15375602 , PMID:15026521
RGD:1358435 , RGD:1358434
NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
G
Arsb
arylsulfatase B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150
NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963
G
Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:11709541 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Mal
mal, T-cell differentiation protein
ISO
RGD
PMID:15193296
RGD:1358761
NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655
G
Psap
prosaposin
ISO ISS
ClinVar Annotator: match by term: Metachromatic leukodystrophy OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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Scp2
sterol carrier protein 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868
NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
G
Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Saposin B Deficiency
ClinVar
PMID:25741868
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
G
Psap
prosaposin
ISO
ClinVar Annotator: match by term: Saposin B Deficiency
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
G
Nacc1
nucleus accumbens associated 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
OMIM ClinVar
PMID:25741868 PMID:28132692
NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
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Mthfs
methenyltetrahydrofolate synthetase
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
OMIM ClinVar
PMID:25741868 PMID:30031689
NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
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Gjc2
gap junction protein, gamma 2
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:23143715 PMID:25741868 PMID:31319225
NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
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Lmnb1
lamin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
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Plp1
proteolipid protein 1
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, mild CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal ClinVar Annotator: match by OMIM:312080 ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease DNA:missense mutation:cds:p.A246T (human)
ClinVar CTD OMIM
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 , PMID:14572140 , PMID:10425042
RGD:1358783 , RGD:1358559
NCBI chr X:107,494,326...107,511,355
Ensembl chr X:107,496,072...107,511,348
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Rab9b
RAB9B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal 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, mild
ClinVar
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896
NCBI chr X:107,531,404...107,542,510
Ensembl chr X:107,531,404...107,542,510
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency
ClinVar
PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 PMID:28762252
NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:27391121 PMID:28089741 PMID:28492532 PMID:29239743
NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
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Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:192315 ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:27391121 PMID:28089741 PMID:28492532 PMID:29239743
NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
Developmental Diseases
9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8437
genetic disease
7954
Nervous System Heredodegenerative Disorders
1952
Hereditary Central Nervous System Demyelinating Diseases
42
Dysmyelinating Leukodystrophy with Oligodontia
2
Dysmyelination with Jaundice
0
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
1
Krabbe disease +
3
Leber hereditary optic neuropathy with demyelinating disease of CNS
0
Megalencephaly with Dysmyelination
0
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
1
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
1
Optic Atrophy with Demyelinating Disease of CNS
0
early infantile epileptic encephalopathy 39
1
hypomyelinating leukodystrophy +
26
megalencephalic leukoencephalopathy with subcortical cysts +
2
metachromatic leukodystrophy +
7
retinal vasculopathy with cerebral leukodystrophy
2
Path 2
disease
16085
disease of anatomical entity
15340
nervous system disease
10967
central nervous system disease
9119
brain disease
8448
Metabolic Brain Diseases
576
Metabolic Brain Diseases, Inborn
506
Hereditary Central Nervous System Demyelinating Diseases
42
Dysmyelinating Leukodystrophy with Oligodontia
2
Dysmyelination with Jaundice
0
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
1
Krabbe disease +
3
Leber hereditary optic neuropathy with demyelinating disease of CNS
0
Megalencephaly with Dysmyelination
0
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
1
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
1
Optic Atrophy with Demyelinating Disease of CNS
0
early infantile epileptic encephalopathy 39
1
hypomyelinating leukodystrophy +
26
megalencephalic leukoencephalopathy with subcortical cysts +
2
metachromatic leukodystrophy +
7
retinal vasculopathy with cerebral leukodystrophy
2