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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:leukodystrophy
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Accession:DOID:10579 term browser browse the term
Definition:A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)
Synonyms:narrow_synonym: CST3-RELATED LEUKODYSTROPHY
 xref: GARD:6895;   ICD9CM:330.0;   NCI:C61253;   OMIM:PS221820
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769 PMID:7866401 PMID:8723680 PMID:10381328 PMID:14517960 More... NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISS MouseDO NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650 		JBrowse link
G CST3 cystatin C IAGP ClinVar Annotator: match by term: CST3-related Leukodystrophy ClinVar PMID:25741868 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473 		JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30620337 PMID:31186544 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G GALC galactosylceramidase IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268 PMID:9338580 PMID:22520351 PMID:25741868 PMID:27638593 More... NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:20363167 PMID:22789865 PMID:24767253 PMID:25606403 PMID:25741868 More... NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126860970 BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30323018 NCBI chr10:77,984,054...77,985,253 JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,629,470...75,630,669 JBrowse link
G LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar NCBI chr19:2,321,521...2,328,586
Ensembl chr19:2,321,520...2,328,611 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:16007586 PMID:16199547 PMID:17159124 PMID:19938095 PMID:21855841 More... NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G SCP2 sterol carrier protein 2 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G TMEM63A transmembrane protein 63A IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:31587869 NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 susceptibility IAGP
ISS
EXP		 ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 IEP RGD PMID:15800013 RGD:11065111 NCBI chr15:78,167,468...78,234,565
Ensembl chr15:78,167,468...78,245,688 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816 		JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282 		JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061 		JBrowse link
G F8A2 coagulation factor VIII associated 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,382,095...155,383,801
Ensembl chr  X:155,382,095...155,383,801 		JBrowse link
G F8A3 coagulation factor VIII associated 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,456,914...155,458,620
Ensembl chr  X:155,456,914...155,458,620 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558 		JBrowse link
G H2AB2 H2A.B variant histone 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,380,709...155,381,299
Ensembl chr  X:155,380,709...155,381,299 		JBrowse link
G H2AB3 H2A.B variant histone 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,459,415...155,460,005
Ensembl chr  X:155,459,415...155,460,005 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516 		JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LOC130068831 ATAC-STARR-seq lymphoblastoid silent region 21070 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar NCBI chr  X:153,724,056...153,725,015 JBrowse link
G MAGEA1 MAGE family member A1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,179,284...153,183,880
Ensembl chr  X:153,179,284...153,183,880 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MMP10 matrix metallopeptidase 10 severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007 		JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346 		JBrowse link
G PLXNB3-AS1 PLXNB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20228476 PMID:25741868 PMID:28492532 More... NCBI chr  X:153,758,067...153,766,526 JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010 		JBrowse link
G PNMA3 PNMA family member 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,056,470...153,060,462
Ensembl chr  X:153,056,409...153,060,467 		JBrowse link
G PNMA5 PNMA family member 5 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,988,824...152,994,116
Ensembl chr  X:152,988,824...152,994,116 		JBrowse link
G PNMA6A PNMA family member 6A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,072,454...153,075,019
Ensembl chr  X:153,072,454...153,075,019 		JBrowse link
G PNMA6E PNMA family member 6E IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,395,639...153,414,004
Ensembl chr  X:153,395,639...153,401,392 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RENBP renin binding protein IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587 		JBrowse link
G UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615 		JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
G ZFP92 ZFP92 zinc finger protein IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,411,472...153,426,481
Ensembl chr  X:153,411,472...153,426,481 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,898,067...152,973,481
Ensembl chr  X:152,898,067...152,973,481 		JBrowse link
G ZNF275 zinc finger protein 275 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,334,153...153,352,926
Ensembl chr  X:153,334,147...153,360,110 		JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G LMNB1 lamin B1 IAGP DNA:duplication:cds (human)
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature
ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset		 ClinVar
OMIM
RGD		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... RGD:10044243 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LMNB1-DT LMNB1 divergent transcript IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,751,963...126,776,486
Ensembl chr 5:126,751,963...126,776,486 		JBrowse link
G LOC112997555 Sharpr-MPRA regulatory region 10286 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,543,737...126,544,031 JBrowse link
G LOC129389358 MPRA-validated peak5455 silencer IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,567,723...126,567,923 JBrowse link
G LOC129389359 MPRA-validated peak5456 silencer IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,624,803...126,625,003 JBrowse link
G LOC129994503 ATAC-STARR-seq lymphoblastoid active region 23023 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868
G LOC129994504 ATAC-STARR-seq lymphoblastoid active region 23024 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868
G LOC129994505 ATAC-STARR-seq lymphoblastoid active region 23025 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868
G PHAX phosphorylated adaptor for RNA export IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,600,947...126,627,252
Ensembl chr 5:126,600,925...126,627,252 		JBrowse link
G SPMIP10 sperm microtubule inner protein 10 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,631,705...126,636,284
Ensembl chr 5:126,631,705...126,636,284 		JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:6595937 PMID:31775912 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP
EXP		 ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar Annotator: match by term: CSF1R-related condition | ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1
ClinVar Annotator: match by term: CSF1R-Related Adult-Onset Leukoencephalopathy | ClinVar Annotator: match by term: CSF1R-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2470618 PMID:8614507 PMID:9536098 PMID:16523341 PMID:17576681 More... NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G LOC111188152 CSF1R promoter E1 IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar NCBI chr 5:150,112,609...150,114,048 JBrowse link
G LOC111188154 RORalpha allelically-responsive CSF1R enhancer IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,077,995...150,078,215 JBrowse link
G LOC111188156 CSF1R promoter/intronic regulatory region IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:28492532 NCBI chr 5:150,081,538...150,086,859 JBrowse link
Alexander disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFAP glial fibrillary acidic protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Alexander disease
ClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: GFAP-related condition
OMIM:203450
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1941292 PMID:11138011 PMID:11398833 PMID:11567214 PMID:11587071 More... NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G LOC130060994 ATAC-STARR-seq lymphoblastoid active region 12266 IAGP ClinVar Annotator: match by term: Alexander disease ClinVar PMID:12034785 PMID:12034796 PMID:15732097 PMID:16168595 PMID:17110673 More... NCBI chr17:44,911,186...44,911,295 JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G HTRA1 HtrA serine peptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G NOTCH3 notch receptor 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type		 CTD
ClinVar		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063807 ATAC-STARR-seq lymphoblastoid silent region 10267 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,177,645...15,177,814 JBrowse link
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350 		JBrowse link
G NOTCH3 notch receptor 3 IAGP
ISS		 ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
OMIM:125310		 OMIM
ClinVar
MouseDO		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
CADASIL2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar PMID:25741868 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease		 OMIM
ClinVar		 PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase susceptibility ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Spongy degeneration of central nervous system
OMIM:271900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... RGD:1599298, RGD:1599291 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,860,315...3,893,053
Ensembl chr17:3,860,315...3,894,891 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTNS-AS1 CTNS antisense RNA 1 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,652,550...3,658,015 JBrowse link
G EMC6 ER membrane protein complex subunit 6 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,668,812...3,669,665
Ensembl chr17:3,668,812...3,669,668 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G HASPIN histone H3 associated protein kinase IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,723,903...3,726,699
Ensembl chr17:3,723,903...3,726,699 		JBrowse link
G ITGAE integrin subunit alpha E IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,714,628...3,801,188
Ensembl chr17:3,714,628...3,801,188 		JBrowse link
G LOC126862463 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,574,998...3,576,197 JBrowse link
G LOC126862464 MED14-independent group 3 enhancer GRCh37_chr17:3526895-3528094 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,623,601...3,624,800 JBrowse link
G LOC129390823 MPRA-validated peak2690 silencer IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,702,262...3,702,462 JBrowse link
G LOC129390824 MPRA-validated peak2691 silencer IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,710,822...3,711,022 JBrowse link
G LOC130059975 ATAC-STARR-seq lymphoblastoid silent region 8012 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,535,749...3,535,798 JBrowse link
G LOC130059976 ATAC-STARR-seq lymphoblastoid silent region 8013 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,556,771...3,556,830 JBrowse link
G LOC130059977 ATAC-STARR-seq lymphoblastoid active region 11509 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,562,875...3,563,074 JBrowse link
G LOC130059978 ATAC-STARR-seq lymphoblastoid active region 11510 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,563,295...3,563,344 JBrowse link
G LOC130059979 ATAC-STARR-seq lymphoblastoid silent region 8014 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,635,966...3,636,025 JBrowse link
G LOC130059980 ATAC-STARR-seq lymphoblastoid active region 11511 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,636,506...3,636,755 JBrowse link
G LOC130059981 ATAC-STARR-seq lymphoblastoid silent region 8015 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,637,036...3,637,125 JBrowse link
G LOC130059982 ATAC-STARR-seq lymphoblastoid silent region 8017 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,668,526...3,668,865 JBrowse link
G LOC130059983 ATAC-STARR-seq lymphoblastoid active region 11512 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,693,756...3,693,805 JBrowse link
G LOC130059984 ATAC-STARR-seq lymphoblastoid active region 11513 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,694,206...3,694,255 JBrowse link
G LOC130059985 ATAC-STARR-seq lymphoblastoid active region 11514 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,695,855...3,695,904 JBrowse link
G LOC130059986 ATAC-STARR-seq lymphoblastoid silent region 8018 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,696,025...3,696,384 JBrowse link
G NCBP3 nuclear cap binding subunit 3 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,802,158...3,846,246
Ensembl chr17:3,802,158...3,846,246 		JBrowse link
G P2RX1 purinergic receptor P2X 1 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,896,592...3,916,465
Ensembl chr17:3,896,592...3,916,476 		JBrowse link
G P2RX5 purinergic receptor P2X 5 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr17:3,673,227...3,696,155
Ensembl chr17:3,672,199...3,696,240 		JBrowse link
G P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,662,893...3,696,404
Ensembl chr17:3,663,063...3,696,194 		JBrowse link
G SHPK sedoheptulokinase IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G SOD2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPATA22 spermatogenesis associated 22 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system		 ClinVar PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... NCBI chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852 		JBrowse link
G TAX1BP3 Tax1 binding protein 3 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr17:3,662,895...3,668,578
Ensembl chr17:3,662,895...3,668,679 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: CARASIL syndrome ClinVar PMID:18316707 PMID:20437615 PMID:26467025 PMID:28492532 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP
EXP		 ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease		 ClinVar
CTD
OMIM		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:25342064 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
Childhood-Onset Remitting Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBP2 fructose-bisphosphatase 2 IAGP ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting OMIM
ClinVar		 PMID:33977262 NCBI chr 9:94,558,720...94,593,824
Ensembl chr 9:94,558,720...94,593,824 		JBrowse link
Hereditary Diffuse Leukoencephalopathy with Spheroids 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE
ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2		 OMIM
ClinVar		 PMID:6595937 PMID:25741868 PMID:28492532 PMID:31775912 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
hypomyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,629,470...75,630,669 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129996517 ATAC-STARR-seq lymphoblastoid active region 24602 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 ClinVar PMID:610060 PMID:25741868
G POLR1C RNA polymerase I and III subunit C IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 More... NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP
EXP		 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 chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943 		JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009585 ATAC-STARR-seq lymphoblastoid active region 7595 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 ClinVar PMID:25741868 PMID:28931644 PMID:32860008 PMID:34573312 NCBI chr13:38,349,601...38,349,810 JBrowse link
G UFM1 ubiquitin fold modifier 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 More... NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619 		JBrowse link
hypomyelinating leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
hypomyelinating leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM106B transmembrane protein 106B IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 OMIM
ClinVar		 PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 More... NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
hypomyelinating leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29215095 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175 		JBrowse link
G LOC129997917 ATAC-STARR-seq lymphoblastoid silent region 17931 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868
hypomyelinating leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar		 PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
hypomyelinating leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A IAGP 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 chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380 		JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP
ISS
EXP
ISO		 DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2
OMIM:608804
CTD Direct Evidence: marker/mechanism
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)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 More... RGD:13208525, RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar		 PMID:25741868 PMID:32128616 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
hypomyelinating leukodystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130058083 ATAC-STARR-seq lymphoblastoid active region 10197 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 ClinVar PMID:25741868 NCBI chr16:35,470...35,549 JBrowse link
G POLR3K RNA polymerase III subunit K IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 OMIM
ClinVar		 PMID:25741868 PMID:30584594 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
hypomyelinating leukodystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN11 claudin 11 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 OMIM
ClinVar		 PMID:25741868 PMID:33313762 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
hypomyelinating leukodystrophy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF220 ring finger protein 220 IAGP 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 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723 		JBrowse link
hypomyelinating leukodystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 OMIM
ClinVar		 PMID:34403372 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
hypomyelinating leukodystrophy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM163 transmembrane protein 163 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 ClinVar
OMIM		 PMID:25741868 PMID:35455965 PMID:35953447 NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000 		JBrowse link
hypomyelinating leukodystrophy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar PMID:35325049 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar
OMIM		 PMID:35325049 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
Hypomyelinating Leukodystrophy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1A RNA polymerase I subunit A IAGP OMIM NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 More... NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456 		JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP
EXP		 DNA:mutation:exon: g.1512A>G(p.D29G)(human)
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 More... RGD:12910473 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CDCA7L cell division cycle associated 7 like IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:21,900,899...21,945,899
Ensembl chr 7:21,900,899...21,945,903 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G IL6 interleukin 6 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6-AS1 IL6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620 		JBrowse link
G LOC129998062 ATAC-STARR-seq lymphoblastoid active region 25714 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar
G RAPGEF5 Rap guanine nucleotide exchange factor 5 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:22,118,236...22,357,154
Ensembl chr 7:22,118,236...22,357,154 		JBrowse link
G SP4 Sp4 transcription factor IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:21,428,083...21,514,822
Ensembl chr 7:21,428,043...21,514,822 		JBrowse link
G STEAP1B STEAP family member 1B IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:22,419,444...22,500,188
Ensembl chr 7:22,419,444...22,727,613 		JBrowse link
G TOMM7 translocase of outer mitochondrial membrane 7 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849 		JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063295 ATAC-STARR-seq lymphoblastoid silent region 9955 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 ClinVar PMID:3156966 PMID:3405308 PMID:23424103 PMID:23595291 PMID:24785942 More... NCBI chr19:6,502,106...6,502,285 JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP
ISS		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
OMIM:612438		 ClinVar
MouseDO
OMIM		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: POLR3-related leukodystrophy ClinVar NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G LOC126860970 BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 IAGP ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21855841 PMID:22855961 More... NCBI chr10:77,984,054...77,985,253 JBrowse link
G LOC126860971 CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79784551-79785750 IAGP ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy		 ClinVar PMID:21855841 PMID:22855961 PMID:25339210 PMID:25741868 PMID:28492532 More... NCBI chr10:78,024,793...78,025,992 JBrowse link
G LOC130004143 ATAC-STARR-seq lymphoblastoid active region 3612 IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome		 ClinVar PMID:22855961 PMID:27029625 NCBI chr10:78,029,435...78,029,684 JBrowse link
G LOC130004144 ATAC-STARR-seq lymphoblastoid active region 3613 IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:25741868 NCBI chr10:78,033,663...78,034,192 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP
EXP		 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
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
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 chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome		 ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ClinVar PMID:22855961 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 More... NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926 		JBrowse link
G LOC130008660 ATAC-STARR-seq lymphoblastoid silent region 4817 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr12:106,455,189...106,455,238 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP 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
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 chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARS1 arginyl-tRNA synthetase 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 More... NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G LOC130064417 ATAC-STARR-seq lymphoblastoid silent region 10608 IAGP ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:39,502,718...39,503,097 JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP
EXP		 ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 More... NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... RGD:734925 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19909266 More... NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter		 CTD
ClinVar
MouseDO		 PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 More... NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP
ISS
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... RGD:734925 NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G EIF2B5-DT EIF2B5 divergent transcript IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar NCBI chr 3:184,131,195...184,135,261
Ensembl chr 3:184,134,019...184,135,238 		JBrowse link
G GTF3C2-AS2 GTF3C2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:11835386 PMID:15136673 PMID:15507143 PMID:16998732 PMID:18263758 More... NCBI chr 2:27,356,765...27,367,880 JBrowse link
G LOC126861664 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:16807905 PMID:18263758 PMID:25741868 PMID:26285592 PMID:28492532 More... NCBI chr12:123,621,377...123,622,576 JBrowse link
G LOC129930429 ATAC-STARR-seq lymphoblastoid active region 956 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar
G LOC129938040 ATAC-STARR-seq lymphoblastoid active region 20901 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar
G LOC129938041 ATAC-STARR-seq lymphoblastoid silent region 14954 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 PMID:28492532
G LOC130009115 ATAC-STARR-seq lymphoblastoid active region 7273 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar NCBI chr12:123,633,713...123,633,902 JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
leukoencephalopathy with vanishing white matter 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 OMIM
ClinVar		 PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:25741868 PMID:31072091 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G LOC126861664 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:25741868 NCBI chr12:123,621,377...123,622,576 JBrowse link
leukoencephalopathy with vanishing white matter 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 OMIM
ClinVar		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
leukoencephalopathy with vanishing white matter 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 OMIM
ClinVar		 PMID:11835386 PMID:15776425 PMID:19158808 PMID:20301435 PMID:22312164 More... NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
leukoencephalopathy with vanishing white matter 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 OMIM
ClinVar		 PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 More... NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G GTF3C2-AS2 GTF3C2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 ClinVar PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 More... NCBI chr 2:27,356,765...27,367,880 JBrowse link
leukoencephalopathy with vanishing white matter 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11835386 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:25741868 PMID:31072091 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: EIF2B5-related condition
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
ClinVar Annotator: match by term: Cree leukoencephalopathy		 OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G LOC129938041 ATAC-STARR-seq lymphoblastoid silent region 14954 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 ClinVar PMID:15136673 PMID:17646634 PMID:28492532
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
ClinVar
MouseDO		 PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr11:124,919,250...124,920,677
Ensembl chr11:124,919,250...124,920,677 		JBrowse link
G LOC125446261 Sharpr-MPRA regulatory region 9327 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar PMID:11935341 PMID:12939431 PMID:15832614 PMID:16470554 PMID:16652334 More... NCBI chr22:50,083,060...50,083,354 JBrowse link
G MLC1 modulator of VRAC current 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
ClinVar		 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G LOC125446261 Sharpr-MPRA regulatory region 9327 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:11935341 PMID:12939431 PMID:15832614 PMID:16470554 PMID:16652334 More... NCBI chr22:50,083,060...50,083,354 JBrowse link
G MLC1 modulator of VRAC current 1 IAGP
ISS		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE
OMIM:604004		 ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 More... NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A
ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A		 ClinVar
OMIM		 PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 PMID:31372844 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP
EXP		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 More... NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPRC5B G protein-coupled receptor class C group 5 member B IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEX2 brain expressed X-linked 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,309,346...103,310,990
Ensembl chr  X:103,309,346...103,311,007 		JBrowse link
G BEX3 brain expressed X-linked 3 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,376,323...103,378,164
Ensembl chr  X:103,376,395...103,378,164 		JBrowse link
G ESX1 ESX homeobox 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,250,038...104,254,933
Ensembl chr  X:104,250,038...104,254,933 		JBrowse link
G FAM199X family with sequence similarity 199, X-linked IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,157,066...104,195,902
Ensembl chr  X:104,166,453...104,195,902 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G H2BW1 H2B.W histone 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,011,147...104,013,708
Ensembl chr  X:104,011,147...104,013,708 		JBrowse link
G H2BW2 H2B.W histone 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,039,956...104,042,454
Ensembl chr  X:104,039,956...104,042,454 		JBrowse link
G IL1RAPL2 interleukin 1 receptor accessory protein like 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,566,199...105,767,829
Ensembl chr  X:104,566,199...105,767,829 		JBrowse link
G LINC02589 long intergenic non-protein coding RNA 2589 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,530,767...103,554,953 JBrowse link
G LL0XNC01-250H12.3 uncharacterized LL0XNC01-250H12.3 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,404,780...103,517,943 JBrowse link
G LMNB1 lamin B1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LOC113845781 Sharpr-MPRA regulatory region 5968 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,629,541...103,629,835 JBrowse link
G LOC126863296 BRD4-independent group 4 enhancer GRCh37_chrX:102809676-102810875 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,554,748...103,555,947 JBrowse link
G LOC126863297 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:103,806,777...103,807,976 JBrowse link
G LOC130068509 ATAC-STARR-seq lymphoblastoid active region 29820 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,533,667...103,533,736 JBrowse link
G LOC130068510 ATAC-STARR-seq lymphoblastoid silent region 20921 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,607,858...103,608,087 JBrowse link
G LOC130068511 ATAC-STARR-seq lymphoblastoid silent region 20922 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,608,118...103,608,287 JBrowse link
G LOC130068512 ATAC-STARR-seq lymphoblastoid active region 29821 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,628,600...103,628,669 JBrowse link
G LOC130068513 ATAC-STARR-seq lymphoblastoid active region 29823 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,629,860...103,629,929 JBrowse link
G LOC130068514 ATAC-STARR-seq lymphoblastoid active region 29824 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:103,919,474...103,919,563 JBrowse link
G LOC130068515 ATAC-STARR-seq lymphoblastoid active region 29825 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,110,807...104,111,046 JBrowse link
G LOC130068516 ATAC-STARR-seq lymphoblastoid silent region 20923 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,112,244...104,112,473 JBrowse link
G LOC130068517 ATAC-STARR-seq lymphoblastoid active region 29826 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,156,783...104,157,082 JBrowse link
G LOC286437 uncharacterized LOC286437 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,122,305...104,124,632 JBrowse link
G MORF4L2 mortality factor 4 like 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158 		JBrowse link
G MORF4L2-AS1 MORF4L2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 NCBI chr  X:103,687,284...103,692,560
Ensembl chr  X:103,687,284...103,691,772 		JBrowse link
G PLP1 proteolipid protein 1 TAS
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical
OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal
DNA:missense mutation:cds:p.A246T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... RGD:1358783, RGD:1358559 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G RAB40A RAB40A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,493,266...103,519,489
Ensembl chr  X:103,499,130...103,519,489 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal
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 More... NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257 		JBrowse link
G SLC25A53 solute carrier family 25 member 53 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,099,214...104,157,009
Ensembl chr  X:104,099,214...104,157,009 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953 		JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690 		JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729 		JBrowse link
G TCEAL5 transcription elongation factor A like 5 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,273,691...103,276,750
Ensembl chr  X:103,273,691...103,276,750 		JBrowse link
G TCEAL7 transcription elongation factor A like 7 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,330,239...103,332,326
Ensembl chr  X:103,330,229...103,332,326 		JBrowse link
G TCEAL8 transcription elongation factor A like 8 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,252,995...103,255,155
Ensembl chr  X:103,252,995...103,255,192 		JBrowse link
G TCEAL9 transcription elongation factor A like 9 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,356,506...103,358,462
Ensembl chr  X:103,356,489...103,358,462 		JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032 		JBrowse link
G TMSB15B thymosin beta 15B IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:103,919,155...103,974,426
Ensembl chr  X:103,918,896...103,966,712
Ensembl chr  X:103,918,896...103,966,712 		JBrowse link
G TMSB15B-AS1 TMSB15B antisense RNA 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:103,881,747...103,919,548
Ensembl chr  X:103,845,151...103,919,548 		JBrowse link
G TMSB15C thymosin beta 15C IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,072,887...104,076,236
Ensembl chr  X:104,063,871...104,076,236 		JBrowse link
G ZCCHC18 zinc finger CCHC-type containing 18 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:104,112,523...104,115,842
Ensembl chr  X:104,112,131...104,115,842 		JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G TEN1 TEN1 subunit of CST complex IAGP ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr17:75,979,240...76,000,586
Ensembl chr17:75,979,240...76,000,586 		JBrowse link
G TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr17:75,979,217...76,005,999
Ensembl chr17:75,979,231...76,005,999 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,822,621...8,887,459
Ensembl chr12:8,822,621...8,887,001 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACRBP acrosin binding protein IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,638,075...6,647,432
Ensembl chr12:6,638,075...6,647,433 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,304,072...7,328,719
Ensembl chr12:7,304,072...7,328,719 		JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908 		JBrowse link
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1RL complement C1r subcomponent like IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,094,554...7,109,214
Ensembl chr12:7,089,587...7,109,238 		JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359 		JBrowse link
G CD163 CD163 molecule IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CD163L1 CD163 molecule like 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,318,768...7,444,153
Ensembl chr12:7,346,685...7,479,897 		JBrowse link
G CD27 CD27 molecule IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD4 CD4 molecule IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CDCA3 cell division cycle associated 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,102,907...8,138,607
Ensembl chr12:8,123,617...8,138,607 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,729,383...7,749,541
Ensembl chr12:7,729,383...7,751,605 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,513,503...8,531,696
Ensembl chr12:8,509,475...8,522,366 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,533,275...8,540,905
Ensembl chr12:8,533,305...8,540,905 		JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330 		JBrowse link
G CLSTN3 calsyntenin 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,129,093...7,158,945
Ensembl chr12:7,129,698...7,158,945 		JBrowse link
G COPS7A COP9 signalosome subunit 7A IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,724,046...6,731,865
Ensembl chr12:6,724,014...6,731,875 		JBrowse link
G DPPA3 developmental pluripotency associated 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,711,433...7,717,559
Ensembl chr12:7,711,433...7,717,559 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ENO2 enolase 2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,221,260...8,227,618
Ensembl chr12:8,221,260...8,227,618 		JBrowse link
G FOXJ2 forkhead box J2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,032,716...8,055,517
Ensembl chr12:8,032,716...8,055,517 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GNB3 G protein subunit beta 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
G GPR162 G protein-coupled receptor 162 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,821,821...6,827,421
Ensembl chr12:6,821,624...6,829,972 		JBrowse link
G IFFO1 intermediate filament family orphan 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,538,961...6,556,042
Ensembl chr12:6,538,961...6,556,073 		JBrowse link
G ING4 inhibitor of growth family member 4 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,650,301...6,663,119
Ensembl chr12:6,650,301...6,663,142 		JBrowse link
G LAG3 lymphocyte activating 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,772,520...6,778,455
Ensembl chr12:6,772,512...6,778,455 		JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,618,835...6,635,959
Ensembl chr12:6,618,835...6,635,960 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,976,185...7,018,476
Ensembl chr12:6,976,185...7,018,477 		JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241 		JBrowse link
G LTBR lymphotoxin beta receptor IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,375,160...6,391,566
Ensembl chr12:6,375,045...6,391,571 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MIR141 microRNA 141 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191 		JBrowse link
G MIR200C microRNA 200c IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766 		JBrowse link
G MLF2 myeloid leukemia factor 2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,747,996...6,753,141
Ensembl chr12:6,747,996...6,767,475 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,491,886...6,493,262
Ensembl chr12:6,491,886...6,493,841 		JBrowse link
G NANOG Nanog homeobox IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146 		JBrowse link
G NANOGNB NANOG neighbor homeobox IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,765,216...7,774,121
Ensembl chr12:7,765,216...7,774,121 		JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,494,102...6,531,955
Ensembl chr12:6,493,356...6,531,955 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NOP2 NOP2 nucleolar protein IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,556,871...6,568,291
Ensembl chr12:6,556,863...6,568,691 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,828,407...6,839,847
Ensembl chr12:6,828,407...6,839,847 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP
EXP		 ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHB2 prohibitin 2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,965,327...6,970,753
Ensembl chr12:6,965,327...6,970,780 		JBrowse link
G PIANP PILR alpha associated neural protein IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,692,178...6,700,815
Ensembl chr12:6,693,791...6,700,815 		JBrowse link
G PTMS parathymosin IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,766,363...6,770,952
Ensembl chr12:6,765,516...6,770,952 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RBP5 retinol binding protein 5 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,115,736...7,130,005
Ensembl chr12:7,115,736...7,128,889 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,668,638...8,783,091
Ensembl chr12:8,681,600...8,783,095 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SLC2A14 solute carrier family 2 member 14 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,812,514...7,891,196
Ensembl chr12:7,812,512...7,891,148 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,870,935...6,873,303
Ensembl chr12:6,870,935...6,889,358 		JBrowse link
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G USP5 ubiquitin specific peptidase 5 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,852,150...6,866,632
Ensembl chr12:6,852,148...6,866,632 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G ZNF384 zinc finger protein 384 IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,666,477...6,689,572
Ensembl chr12:6,666,477...6,689,572 		JBrowse link
G ZNF705A zinc finger protein 705A IAGP ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:8,157,015...8,180,046
Ensembl chr12:8,157,015...8,188,537 		JBrowse link
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER3 alkaline ceramidase 3 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET OMIM
ClinVar		 PMID:25741868 PMID:26792856 PMID:28492532 PMID:30575723 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
progressive leukoencephalopathy with ovarian failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure ClinVar PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
retinal dystrophy with leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 IAGP ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy ClinVar
OMIM		 PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G LOC130003557 ATAC-STARR-seq lymphoblastoid active region 3182 IAGP ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy ClinVar PMID:28492532 NCBI chr10:27,240,309...27,240,568 JBrowse link
RNASET2-deficient cystic leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129997675 ATAC-STARR-seq lymphoblastoid silent region 17784 IAGP ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly ClinVar PMID:25741868
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G RNASET2 ribonuclease T2 IAGP
EXP		 ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            cerebral degeneration 839
              leukodystrophy 362
                Alexander disease 2
                CADASIL + 9
                Canavan disease 35
                Childhood-Onset Remitting Leukodystrophy 1
                Hereditary Diffuse Leukoencephalopathy with Spheroids 2 1
                LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 3
                Progressive Leukodystrophy, Early Childhood-Onset 1
                RNASET2-deficient cystic leukoencephalopathy 4
                adrenoleukodystrophy + 159
                adult-onset autosomal dominant demyelinating leukodystrophy 11
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 5
                hypomyelinating leukodystrophy + 101
                leukoencephalopathy with vanishing white matter + 15
                megalencephalic leukoencephalopathy with subcortical cysts + 6
                progressive leukoencephalopathy with ovarian failure 2
                retinal dystrophy with leukodystrophy 2
paths to the root