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: Leukoencephalopathies
Accession: DOID:9002704
browse the term
Definition: Any of various diseases affecting the white matter of the central nervous system.
Synonyms: exact_synonym: CACH Syndromes; CACH VWM Syndrome; CACH VWM Syndromes; CACH syndrome; Childhood Ataxia with Diffuse Central Nervous System Hypomyelination; Hypomyelination of the central nervous system; Leukoencephalopathy; Myelinosis Centralis Diffusa; Myelinosis Centralis Diffusas; White Matter Disease; white matter diseases
primary_id: MESH:D056784
alt_id: OMIA:000526; RDO:0001248
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Aldh7a1
aldehyde dehydrogenase family 7, member A1
ISO
ClinVar Annotator: match by term: Leukoencephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023
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Ankle2
ankyrin repeat and LEM domain containing 2
ISO
ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination
ClinVar
PMID:25741868
NCBI chr 5:110,378,847...110,404,517
Ensembl chr 5:110,378,870...110,404,513
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Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar
PMID:25741868
NCBI chr X:56,276,845...56,384,119
Ensembl chr X:56,276,845...56,384,089
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Bdnf
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24322053
RGD:10045369
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Cdkn1b
cyclin dependent kinase inhibitor 1B
treatment
ISO
RGD
PMID:24322053
RGD:10045369
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Col4a1
collagen, type IV, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20385946
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Csf1r
colony stimulating factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197934
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Dpyd
dihydropyrimidine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11148247
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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Eif2b1
eukaryotic translation initiation factor 2B, subunit alpha
ISO
ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar
PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26285592 PMID:28492532 PMID:31882561 PMID:32865661 PMID:33334879 PMID:34663487 More...
NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194
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Eif2b2
eukaryotic translation initiation factor 2B, subunit 2 beta
ISO
ClinVar Annotator: match by term: CACH/VWM syndrome ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar
PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:16199547 PMID:18263758 PMID:19625339 PMID:20301435 PMID:21307862 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:22729508 PMID:22992991 PMID:24033266 PMID:25031760 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26740508 PMID:27159321 PMID:28041799 PMID:28492532 PMID:29632131 PMID:29700822 PMID:29706645 PMID:30266093 PMID:31438897 PMID:33432707 PMID:34745209 PMID:35897042 More...
NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402
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Eif2b3
eukaryotic translation initiation factor 2B, subunit 3
ISO
ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar
PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19158808 PMID:19909266 PMID:20301435 PMID:21484434 PMID:22312164 PMID:23932106 PMID:24028880 PMID:25079571 PMID:25326635 PMID:25741868 PMID:25761052 PMID:26162493 PMID:26467025 PMID:28492532 PMID:31072091 PMID:31418856 PMID:31692161 PMID:32180488 PMID:33432707 PMID:33517449 PMID:34755279 PMID:36380532 PMID:37981684 More...
NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503
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Eif2b4
eukaryotic translation initiation factor 2B, subunit 4 delta
ISO
ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Myelinosis centralis diffusa
ClinVar
PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16199547 PMID:16807905 PMID:16998732 PMID:18263758 PMID:20016818 PMID:22430157 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:27812215 PMID:28008009 PMID:28334938 PMID:28492532 PMID:32071834 PMID:32180488 PMID:32962729 PMID:33432707 PMID:34745209 PMID:35389136 PMID:35860328 PMID:36380532 More...
NCBI chr 5:31,344,902...31,350,483
Ensembl chr 5:31,344,902...31,350,774
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO
ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa
ClinVar
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 PMID:14572143 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15670229 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16807905 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18519871 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:19909266 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21560189 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25457085 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:25843247 PMID:25989649 PMID:26112719 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671108 PMID:26901872 PMID:27651498 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28334938 PMID:28492532 PMID:28914269 PMID:28939701 PMID:28953922 PMID:29933199 PMID:29995139 PMID:30315562 PMID:30755392 PMID:31418856 PMID:32293553 PMID:33432707 PMID:34745209 PMID:34751098 PMID:35389136 More...
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Fnip2
folliculin interacting protein 2
ISO
Hypomyelination of the central nervous system
OMIA
PMID:676669 PMID:731520 PMID:3577694 PMID:7315204 PMID:20973788 PMID:24272703 More...
NCBI chr 3:79,363,556...79,475,458
Ensembl chr 3:79,363,281...79,475,103
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Kmt2e
lysine (K)-specific methyltransferase 2E
ISO
ClinVar Annotator: match by term: Leukoencephalopathy
ClinVar
PMID:25741868
NCBI chr 5:23,638,034...23,709,233
Ensembl chr 5:23,639,439...23,709,233
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Mlh3
mutL homolog 3
ISO
ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar
PMID:25741868
NCBI chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15753437
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15753437
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Leukoencephalopathy
ClinVar
PMID:34715011
NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31570889
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
ClinVar Annotator: match by term: Leukoencephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Scp2
sterol carrier protein 2, liver
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16685654
NCBI chr 4:107,901,027...108,002,168
Ensembl chr 4:107,901,036...108,002,195
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11868353
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15753437
NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159
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Vps11
VPS11, CORVET/HOPS core subunit
ISO
ClinVar Annotator: match by term: Leukoencephalopathy
ClinVar
PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234
NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ifng
interferon gamma
disease_progression
ISO
protein:increased expression:T cell:
RGD
PMID:11063842
RGD:8157598
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Nefl
neurofilament, light polypeptide
disease_progression
ISO
protein:increased expresssion:serum (human)
RGD
PMID:31383792
RGD:127284875
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Mag
myelin-associated glycoprotein
ISO
protein:decreased expression:optic nerve
RGD
PMID:9820787
RGD:9685300
NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
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Zc3h12a
zinc finger CCCH type containing 12A
disease_progression
IMP
RGD
PMID:26320658
RGD:11534569
NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633
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Slc13a3
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23265383 PMID:25741868 PMID:28492532 PMID:30635937 More...
NCBI chr 2:165,247,215...165,315,117
Ensembl chr 2:165,246,948...165,315,150
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Aars1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar
PMID:6595937 PMID:31775912
NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296
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Csf1r
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: CSF1R-Related Adult-Onset Leukoencephalopathy | 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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2470618 PMID:8614507 PMID:9536098 PMID:16523341 PMID:17576681 PMID:19153373 PMID:22197934 PMID:22503135 PMID:22934315 PMID:23038421 PMID:23408870 PMID:23411710 PMID:23649896 PMID:23816250 PMID:24034409 PMID:24088041 PMID:24094860 PMID:24120500 PMID:24145216 PMID:24198292 PMID:24336230 PMID:24532199 PMID:24706185 PMID:25012610 PMID:25311247 PMID:25563800 PMID:25741868 PMID:25863088 PMID:26141177 PMID:26141825 PMID:26633545 PMID:27619214 PMID:27680516 PMID:28025469 PMID:28492532 PMID:28824062 PMID:28843019 PMID:29389947 PMID:29544907 PMID:30268725 PMID:30279455 PMID:30528841 PMID:30661751 PMID:30982609 PMID:31705326 PMID:31872055 PMID:32055602 PMID:34652888 PMID:35119108 More...
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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LOC111188155
Csf1r promoter/intronic regulatory region
ISO
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar
PMID:28492532
NCBI chr18:61,235,478...61,242,699
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chr 9:98,470,783...98,483,732
Ensembl chr 9:98,470,783...98,483,713
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Aqp4
aquaporin 4
ISO
RGD
PMID:20680636
RGD:5148026
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
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Fanci
Fanconi anemia, complementation group I
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
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Polg
polymerase (DNA directed), gamma
susceptibility
ISO IAGP
DNA:mutations:cds: ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P1073L (3218C>T) (human) DNA:missense mutations:cds:
ClinVar CTD OMIM RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23596069 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26132555 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30393377 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34777884 PMID:34782754 PMID:34927673 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35799515 PMID:35811324 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36403551 PMID:36689859 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
RGD:8694184 , RGD:15039298 , RGD:8694317 , RGD:8694284
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
G
Polrmt
polymerase (RNA) mitochondrial (DNA directed)
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:25741868
NCBI chr10:79,571,951...79,582,436
Ensembl chr10:79,571,957...79,582,415
G
Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
G
Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532
NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796
G
Cdh23
cadherin related 23 (otocadherin)
ISO
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
G
Psap
prosaposin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency
CTD OMIM ClinVar
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29995202 PMID:30632081 PMID:31069529 PMID:31319425 PMID:31439510 PMID:32180488 PMID:33219486 More...
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
G
Col4a1
collagen, type IV, alpha 1
IAGP ISO
OMIM:607595 ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
MouseDO OMIM ClinVar CTD
PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:10713126 PMID:10896941 PMID:12011424 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24374867 PMID:24628545 PMID:25326635 PMID:25457163 PMID:25590979 PMID:25706114 PMID:25719457 PMID:25741868 PMID:25741869 PMID:26310487 PMID:26362372 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28369186 PMID:28442301 PMID:28492532 PMID:29137252 PMID:29602769 PMID:29770612 PMID:29927466 PMID:30087447 PMID:30181649 PMID:30315939 PMID:30413629 PMID:30653986 PMID:30837194 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31857254 PMID:32033901 PMID:32042920 PMID:32488064 PMID:32499604 PMID:32515830 PMID:32732225 PMID:32818659 PMID:33298904 PMID:33353976 PMID:33527515 PMID:34114234 PMID:34906502 PMID:35711275 PMID:36035189 PMID:37830085 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
G
Col4a2
collagen, type IV, alpha 2
ISO
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
G
Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
G
Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192
G
Gm53191
predicted gene, 53191
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192
G
Htra1
HtrA serine peptidase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
G
Notch3
notch 3
ISO
CTD Direct Evidence: marker/mechanism 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 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12482954 PMID:12754354 PMID:12810003 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:17122431 PMID:17135568 PMID:17218610 PMID:17390743 PMID:18386331 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19080749 PMID:19153638 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19252787 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20935329 PMID:20975277 PMID:21078731 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22218279 PMID:22259617 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:23025651 PMID:23584202 PMID:23602593 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24886907 PMID:25033846 PMID:25260786 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25914166 PMID:25929831 PMID:25959358 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26671140 PMID:26806700 PMID:26856460 PMID:26889213 PMID:27245348 PMID:27350778 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28555127 PMID:28710804 PMID:28860774 PMID:28991717 PMID:29363903 PMID:29370179 PMID:29544907 PMID:29980472 PMID:30199759 PMID:30311053 PMID:30402942 PMID:30656190 PMID:30906334 PMID:30956055 PMID:31418856 PMID:31433517 PMID:31443546 PMID:31554780 PMID:31792094 PMID:31836585 PMID:31915071 PMID:31996268 PMID:32055601 PMID:32122318 PMID:32172663 PMID:32277177 PMID:32457593 PMID:32555735 PMID:32573853 PMID:32581362 PMID:32732295 PMID:32765252 PMID:33061333 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34352628 PMID:34741685 PMID:34851492 PMID:34881353 PMID:35300531 PMID:35754959 PMID:35775048 PMID:35822697 PMID:36221938 More...
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802
G
Notch3
notch 3
ISO IAGP
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 | ClinVar Annotator: match by term: Recurrent subcortical infarcts OMIM:125310
OMIM ClinVar MouseDO
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10802804 PMID:10854111 PMID:10969905 PMID:11058919 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11571335 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12395806 PMID:12482954 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14710716 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15714997 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16193256 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16791082 PMID:16864835 PMID:17122431 PMID:17135568 PMID:17218610 PMID:17323840 PMID:17389000 PMID:17390743 PMID:17729386 PMID:17761910 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18386330 PMID:18386331 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19080749 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19488902 PMID:19528524 PMID:19539236 PMID:19542611 PMID:19576955 PMID:19683925 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20169447 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21078731 PMID:21345538 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22053260 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22206696 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22688109 PMID:22795385 PMID:22878905 PMID:23025651 PMID:23028706 PMID:23064698 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23623146 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24844136 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25033846 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25914166 PMID:25929831 PMID:25959358 PMID:25973016 PMID:25980907 PMID:25982499 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26618768 PMID:26646783 PMID:26671140 PMID:26715087 PMID:26806700 PMID:26843489 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:26912635 PMID:27174004 PMID:27206574 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28003435 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28601945 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28902129 PMID:28991717 PMID:29363903 PMID:29449082 PMID:29980472 PMID:30031255 PMID:30032161 PMID:30076350 PMID:30199759 PMID:30212743 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30355220 PMID:30402942 PMID:30532056 PMID:30656190 PMID:30906334 PMID:30954774 PMID:30956055 PMID:31028544 PMID:31212292 PMID:31418856 PMID:31433517 PMID:31443546 PMID:31554780 PMID:31680059 PMID:31792094 PMID:31799216 PMID:31813735 PMID:31915071 PMID:31960911 PMID:31998484 PMID:32055601 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32196841 PMID:32277177 PMID:32348626 PMID:32387185 PMID:32457593 PMID:32552418 PMID:32555735 PMID:32573853 PMID:32581362 PMID:32612778 PMID:32732295 PMID:32765252 PMID:32912545 PMID:33013620 PMID:33020014 PMID:33061333 PMID:33091750 PMID:33109952 PMID:33161844 PMID:33161845 PMID:33268848 PMID:33310205 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34074565 PMID:34335700 PMID:34374989 PMID:34691145 PMID:34741685 PMID:34841502 PMID:34851492 PMID:35226365 PMID:35401403 PMID:35754959 PMID:35775048 PMID:35822697 PMID:36044383 PMID:36157006 PMID:36300346 PMID:36401683 PMID:36402400 PMID:36479049 PMID:36535904 PMID:36580209 PMID:37479695 More...
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
G
Htra1
HtrA serine peptidase 1
ISO
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 PMID:27164673 PMID:28402226 PMID:28492532 PMID:29561953 PMID:29895533 PMID:30447605 PMID:30981321 PMID:31316458 PMID:32101834 PMID:32581362 PMID:34220097 More...
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
G
Notch3
notch 3
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
ClinVar
PMID:28492532
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
G
Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25506911 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:27353043 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:30859180 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 PMID:36047879 PMID:36253578 PMID:36261288 PMID:36380532 More...
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Pura
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar
PMID:24500651 PMID:27148565
NCBI chr18:36,413,614...36,434,575
Ensembl chr18:36,414,150...36,425,588
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Tpm2
tropomyosin 2, beta
ISO
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar
PMID:24500651
NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
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Ctc1
CTS telomere maintenance complex component 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome
CTD ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299
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Stn1
STN1, CST complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946
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Ctc1
CTS telomere maintenance complex component 1
ISO
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:34573280 PMID:34706368 More...
NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299
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Pfas
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286
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Stn1
STN1, CST complex subunit
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
OMIM ClinVar
PMID:25741868 PMID:27432940 PMID:28492532
NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946
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Pot1a
protection of telomeres 1A
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3
ClinVar OMIM
PMID:27013236 PMID:28492532
NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:12098510
RGD:8655962
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Nefh
neurofilament, heavy polypeptide
IEP
protein:decreased expression:spinal cord:
RGD
PMID:12742652
RGD:27226817
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Plp1
proteolipid protein (myelin) 1
ISO
human sequence peptide in a mouse model; associated with Herpesviridae infections
RGD
PMID:12811845
RGD:30296670
NCBI chr X:135,720,897...135,739,331
Ensembl chr X:135,723,420...135,740,482
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IMP
RGD
PMID:17983428
RGD:13208507
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Ears2
glutamyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25741868 PMID:26741492 PMID:26780086 PMID:26893310 PMID:27117034 PMID:27290639 PMID:28492532 PMID:28748214 PMID:28748215 PMID:28973083 PMID:31520968 PMID:31665838 PMID:32887222 PMID:33128823 PMID:33258288 PMID:33855712 PMID:33962821 PMID:33972171 PMID:34440436 PMID:36349561 PMID:37377599 More...
NCBI chr 7:121,633,385...121,666,436
Ensembl chr 7:121,636,436...121,666,486
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Gga2
golgi associated, gamma adaptin ear containing, ARF binding protein 2
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
ClinVar
PMID:25741868
NCBI chr 7:121,585,945...121,620,421
Ensembl chr 7:121,585,945...121,620,445
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr10:59,838,414...59,935,812
Ensembl chr10:59,838,627...59,935,810
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Cdh23
cadherin related 23 (otocadherin)
ISO
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr10:60,017,349...60,057,936
Ensembl chr10:60,017,354...60,055,082
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Psap
prosaposin
susceptibility
IAGP ISO
OMIM:611721 ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
MouseDO OMIM ClinVar CTD
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:15944902 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 PMID:35456468 More...
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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Spock2
sparc/osteonectin, cwcv and kazal-like domains proteoglycan 2
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr10:59,942,079...59,971,020
Ensembl chr10:59,942,041...59,971,020
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Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy
OMIM ClinVar
PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 PMID:33260297 More...
NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955
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Slc25a12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: Hypomyelination, global cerebral OMIM:612949
OMIM CTD ClinVar MouseDO
PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 PMID:28492532 PMID:31403263 More...
NCBI chr 2:71,104,614...71,198,125
Ensembl chr 2:71,101,407...71,198,093
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:614258 PMID:20640464 PMID:21855841 PMID:22855961 PMID:25339210 PMID:25741868 PMID:27029625 PMID:27612211 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 PMID:34589056 PMID:36344503 More...
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Polr3b
polymerase (RNA) III (DNA directed) polypeptide B
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 More...
NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
ClinVar
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445
NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802
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Col4a2
collagen, type IV, alpha 2
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
ClinVar
PMID:25719457
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
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Naxe
NAD(P)HX epimerase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition
OMIM CTD ClinVar
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445
NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802
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Naxd
NAD(P)HX dehydratase
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30576410 PMID:31755961 PMID:32462209 PMID:35231119 More...
NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960
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Fdx2
ferredoxin 2
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
OMIM ClinVar
PMID:24281368 PMID:25741868 PMID:28492532
NCBI chr 9:20,978,808...20,984,827
Ensembl chr 9:20,978,816...20,984,910
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A2m
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:1710603
RGD:10046021
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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Adam17
a disintegrin and metallopeptidase domain 17
ISO
RGD
PMID:15878627
RGD:1559178
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Adam8
a disintegrin and metallopeptidase domain 8
IMP
RGD
PMID:9670863
RGD:2325244
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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Aif1
allograft inflammatory factor 1
ISO
protein:altered expression:spinal cord (rat)
RGD
PMID:19246105
RGD:2313022
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Akap12
A kinase anchor protein 12
ISO
mRNA,protein:increased expression:spinal cord
RGD
PMID:20155814
RGD:14348972
NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470
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Alox15
arachidonate 15-lipoxygenase
IMP
RGD
PMID:15328042
RGD:5509618
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Amigo2
adhesion molecule with Ig like domain 2
severity
IMP
RGD
PMID:28119027
RGD:14392778
NCBI chr15:97,141,955...97,145,168
Ensembl chr15:97,142,006...97,145,168
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Anxa1
annexin A1
ISO
protein:increased expression:brain, astrocyte, macrophage
RGD
PMID:9472682
RGD:2306942
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Apoe
apolipoprotein E
ISO
RGD
PMID:28578430
RGD:13703134
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Aqp4
aquaporin 4
disease_progression severity
IEP IMP ISO IDA
RGD
PMID:21056916 PMID:19660138 PMID:21157915 PMID:23707078
RGD:5148015 , RGD:5490116 , RGD:5490117 , RGD:8696030
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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B2m
beta-2 microglobulin
IMP
RGD
PMID:15837577
RGD:6482690
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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B4galt6
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
IEP
mRNA:increased expression:astrocyte
RGD
PMID:25216636
RGD:14390079
NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:23212569
RGD:10059360
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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C3
complement component 3
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:22320401
RGD:7175513
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C6
complement component 6
severity
ISO
RGD
PMID:11970970
RGD:625607
NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
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Cacna1b
calcium channel, voltage-dependent, N type, alpha 1B subunit
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
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Calca
calcitonin/calcitonin-related polypeptide, alpha
no_association
IMP
RGD
PMID:19563774
RGD:5684360
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
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Casp3
caspase 3
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp8
caspase 8
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Casp9
caspase 9
ISO
protein:increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cav3
caveolin 3
onset
ISO
Protein:increased expression:spinal cord, astrocyte
RGD
PMID:15925413
RGD:1582168
NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833
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Cblb
Casitas B-lineage lymphoma b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
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Ccl1
C-C motif chemokine ligand 1
ISO
mRNA:decreased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
C-C motif chemokine ligand 11
ISO
mRNA:increased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:spinal cord mRNA:decreased expression:lymph node mRNA:increased expression:optic chiasma (rat)
RGD
PMID:17666800 PMID:19865101 PMID:11241588
RGD:2307114 , RGD:4145472 , RGD:8548888
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
ISO
mRNA:increased expression:spinal cord
RGD
PMID:17666800
RGD:2307114
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl5
C-C motif chemokine ligand 5
IEP ISO
protein:increased expression:brain (mouse) mRNA:increased expression:spinal cord
RGD
PMID:15833367 PMID:17666800
RGD:4890027 , RGD:2307114
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:14655765 PMID:14512166
RGD:5688165 , RGD:5688167
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9655467
RGD:632391
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
IDA
RGD
PMID:15034073
RGD:6893394
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:spinal cord, macrophage, microglia (rat)
RGD
PMID:17484785
RGD:4890436
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd28
CD28 antigen
ISO
RGD
PMID:16061730
RGD:2307203
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd4
CD4 antigen
treatment
ISO
protein:decreased expression:T lymphocyte:
RGD
PMID:9138014 PMID:3097071
RGD:10058963 , RGD:10058968
NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
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Cd80
CD80 antigen
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cd86
CD86 antigen
resistance disease_progression
IMP ISO
protein:increased expression:spinal cord, blood vessel (rat)
RGD
PMID:10477557 PMID:20451260
RGD:4892227 , RGD:4892207
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Ciita
class II transactivator
ISO
RGD
PMID:15821736
RGD:1358146
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:21107918 PMID:7541143 PMID:10650887
RGD:6483335 , RGD:6483353 , RGD:6483351
NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
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Comt
catechol-O-methyltransferase
treatment
IMP
RGD
PMID:25242632
RGD:13450949
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:22768796
RGD:7243111
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Cspg4
chondroitin sulfate proteoglycan 4
IEP ISO
protein:increased expression:spinal cord
RGD
PMID:21679768 PMID:20162860
RGD:5686852 , RGD:5686863
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Ctsc
cathepsin C
ISO
RGD
PMID:843913
RGD:1599653
NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096
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Ctss
cathepsin S
IMP
RGD
PMID:21439785
RGD:5686915
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16053521
RGD:4891973
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:16053521 PMID:24706865
RGD:4891973 , RGD:9491767
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcr2
C-X-C motif chemokine receptor 2
IMP
RGD
PMID:19616545
RGD:7257694
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:21038468
RGD:5135506
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Dab2
disabled 2, mitogen-responsive phosphoprotein
disease_progression
ISO
RGD
PMID:21890121
RGD:7243155
NCBI chr15:6,329,269...6,470,196
Ensembl chr15:6,329,269...6,470,193
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Dlk1
delta like non-canonical Notch ligand 1
IDA
RGD
PMID:24676147
RGD:150520045
NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262
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Dll1
delta like canonical Notch ligand 1
IMP
RGD
PMID:17947672
RGD:6482235
NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
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Dll4
delta like canonical Notch ligand 4
ameliorates
IMP
RGD
PMID:21813770
RGD:155663662
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
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Dusp10
dual specificity phosphatase 10
IMP
RGD
PMID:15306813
RGD:7775013
NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
disease_progression
ISO
RGD
PMID:19524108
RGD:9685491
NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18382691
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Ern1
endoplasmic reticulum to nucleus signalling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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Esr2
estrogen receptor 2 (beta)
IMP IDA
RGD
PMID:21565615 PMID:21182085
RGD:5508732 , RGD:5508735
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:10944459
RGD:12903984
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fcgr3
Fc receptor, IgG, low affinity III
IMP
RGD
PMID:12576552
RGD:5508383
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fgf2
fibroblast growth factor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:8929896 PMID:9814819
RGD:8655647 , RGD:9831448
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Flt1
FMS-like tyrosine kinase 1
treatment
ISO
RGD
PMID:18721816
RGD:10402153
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27742544
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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Ghrh
growth hormone releasing hormone
resistance
IMP
RGD
PMID:21846799
RGD:5687168
NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426
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Ghrl
ghrelin
treatment
ISO
RGD
PMID:19620309
RGD:12905041
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Gjc2
gap junction protein, gamma 2
IEP
protein:decreased expression:white matter of spinal cord, gap junction (mouse)
RGD
PMID:22461072
RGD:13208593
NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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Gli1
GLI-Kruppel family member GLI1
IEP
RGD
PMID:18991353
RGD:12801440
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Glud1
glutamate dehydrogenase 1
IEP
mRNA, protein:decreased expression:spinal cord
RGD
PMID:9145307
RGD:6484657
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
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Gpx3
glutathione peroxidase 3
ISO
RGD
PMID:22320401
RGD:7175513
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
RGD
PMID:18050272 PMID:9834080 PMID:16723470
RGD:5147622 , RGD:5147666 , RGD:5147639
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:16723470 PMID:9834080 PMID:16194572
RGD:5147639 , RGD:5147666 , RGD:5147647
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea
histocompatibility 2, class II antigen E alpha
ISO
RGD
PMID:8676084
RGD:5490166
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
RGD
PMID:16194572
RGD:5147647
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Havcr2
hepatitis A virus cellular receptor 2
IMP ISO
mRNA:increased expression:spinal cord:
RGD
PMID:11823861 PMID:15913792
RGD:9686086 , RGD:9686113
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
IMP ISO
RGD
PMID:17085013 PMID:14691063
RGD:5508469 , RGD:5508476
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Ifnb1
interferon beta 1, fibroblast
ameliorates treatment exacerbates
IDA ISO
RGD
PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868
RGD:401854237 , RGD:401854247 , RGD:401854246 , RGD:5147399
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Ifng
interferon gamma
disease_progression treatment
IMP
RGD
PMID:15661899 PMID:22896638
RGD:7987912 , RGD:10755692
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:7541143
RGD:6483353
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23872438
RGD:7364993
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il10ra
interleukin 10 receptor, alpha
ISO
RGD
PMID:12620647
RGD:2316323
NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447
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Il12a
interleukin 12a
IMP
RGD
PMID:12471147
RGD:724447
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il12b
interleukin 12b
ISO
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473
RGD:4831840
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il13
interleukin 13
severity
IMP ISO
RGD
PMID:18250480 PMID:7523520
RGD:5684366 , RGD:5684367
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il16
interleukin 16
ISO
RGD
PMID:17641011
RGD:5024940
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a
interleukin 17A
treatment
ISO IDA IMP
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473 PMID:16200068 PMID:20003332 PMID:16785554
RGD:4831840 , RGD:9212317 , RGD:4888522 , RGD:4889113
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9834127 PMID:9846824
RGD:4889543 , RGD:4889542
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il18r1
interleukin 18 receptor 1
ISO
mRNA:increased expression:lymph node
RGD
PMID:19269041
RGD:2311529
NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7593560
RGD:8551836
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il21
interleukin 21
ISO
RGD
PMID:18997868
RGD:5147399
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il21r
interleukin 21 receptor
no_association disease_progression
IMP
RGD
PMID:18546146 PMID:18353312
RGD:6892939 , RGD:6892940
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
G
Il22
interleukin 22
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
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Il27
interleukin 27
IEP
protein:decreased expression:blood serum (mouse)
RGD
PMID:33403844
RGD:126790527
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il2ra
interleukin 2 receptor, alpha chain
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il4
interleukin 4
treatment
IMP ISO
RGD
PMID:18239607 PMID:1383385
RGD:7829778 , RGD:8142395
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO IMP
protein:increased expression:oligodendrocytes (rat)
RGD
PMID:9358769 PMID:23322593
RGD:2307412 , RGD:12791289
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Itga4
integrin alpha 4
treatment susceptibility
ISO
rat bone marrow cells in a mouse model
RGD
PMID:12626659 PMID:18722022
RGD:9698418 , RGD:9698436
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Jag1
jagged 1
IMP
RGD
PMID:17947672
RGD:6482235
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jak2
Janus kinase 2
IDA
RGD
PMID:22066025
RGD:6483041
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:25012120
RGD:11533939
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Kdr
kinase insert domain protein receptor
IMP
RGD
PMID:19233483
RGD:5684404
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kit
KIT proto-oncogene receptor tyrosine kinase
IMP
RGD
PMID:25972476
RGD:12910744
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Lrp1
low density lipoprotein receptor-related protein 1
IEP
protein:increased expression:cerebellum, spinal cord
RGD
PMID:19299462
RGD:13800552
NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
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Lta
lymphotoxin A
ISO
mRNA:increased expression:spinal cord mRNA:increased expression:brain
RGD
PMID:7593556 PMID:9184655
RGD:1625038 , RGD:4143220
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mapt
microtubule-associated protein tau
treatment
ISO
RGD
PMID:15494405
RGD:1358431
NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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Mbp
myelin basic protein
ISO
human sequence peptide in a rat model; associated with Herpesviridae infections CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 PMID:12811845 More...
RGD:7349334 , RGD:30296670
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mdk
midkine
ISO
RGD
PMID:9814819
RGD:9831448
NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642
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Mir146
microRNA 146
IEP
mRNA:increased expression:spinal cord (mouse)
RGD
PMID:22660635
RGD:155663483
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Mir23b
microRNA 23b
treatment
IEP IMP
mRNA:decreased expression:spinal cord (mouse)
RGD
PMID:22660635 PMID:22660635
RGD:155663483 , RGD:155663483
NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19922364
RGD:2325703
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:9549496
RGD:8547909
NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587
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Mmp9
matrix metallopeptidase 9
treatment
ISO IEP
protein:increased expression:multiple tissues
RGD
PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566
RGD:8547909 , RGD:13204801 , RGD:13204762 , RGD:8547936
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mobp
myelin-associated oligodendrocytic basic protein
IDA
RGD
PMID:10623862
RGD:27226694
NCBI chr 9:119,978,740...120,010,554
Ensembl chr 9:119,978,773...120,010,550
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Mog
myelin oligodendrocyte glycoprotein
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 PMID:18667803 PMID:21068375 PMID:21317386 PMID:21341682 PMID:23360710 PMID:23547115 PMID:23639249 PMID:30661753 PMID:10384097 PMID:14624757 PMID:14624757 PMID:12799014 More...
RGD:9685372 , RGD:9685375 , RGD:9685375 , RGD:9685373
NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
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Mt1
metallothionein 1
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Mt2
metallothionein 2
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Mt3
metallothionein 3
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774
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Ncam1
neural cell adhesion molecule 1
ISO
protein:decreased expression:hippocampus
RGD
PMID:17064783
RGD:40924670
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:cerebrospinal fluid, spinal cord
RGD
PMID:16182933
RGD:2299007
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19910389
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngf
nerve growth factor
ISO
protein, mRNA:increased expression:thalamus and cortex, CNS (rat)
RGD
PMID:8866783
RGD:5508386
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
severity
IMP ISO
mRNA:increased expression:central nervous system (rat)
RGD
PMID:16519950 PMID:8866783
RGD:5508312 , RGD:5508386
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nos2
nitric oxide synthase 2, inducible
IMP
RGD
PMID:21857957
RGD:5509069
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nr1h2
nuclear receptor subfamily 1, group H, member 2
IMP
RGD
PMID:21266776
RGD:6480877
NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IMP
RGD
PMID:17322387
RGD:4892331
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
mRNA:increased expression:brain subventricular zone:
RGD
PMID:15589512
RGD:5684777
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Olig1
oligodendrocyte transcription factor 1
treatment
IEP
RGD
PMID:24941845
RGD:40902822
NCBI chr16:91,066,657...91,068,827
Ensembl chr16:91,066,660...91,068,821
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Olig2
oligodendrocyte transcription factor 2
treatment
IEP ISO
RGD
PMID:24941845 PMID:29682587
RGD:40902822 , RGD:40902863
NCBI chr16:91,016,745...91,025,567
Ensembl chr16:91,022,345...91,025,565
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Pdcd1
programmed cell death 1
susceptibility
IMP
RGD
PMID:24648472
RGD:40818258
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pdgfb
platelet derived growth factor, B polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
IMP
RGD
PMID:20303183
RGD:6482686
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Plp1
proteolipid protein (myelin) 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21068375 PMID:24941845
RGD:40902822
NCBI chr X:135,720,897...135,739,331
Ensembl chr X:135,723,420...135,740,482
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261635
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Prf1
perforin 1 (pore forming protein)
IMP
RGD
PMID:20708278
RGD:6482806
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Prkaa1
protein kinase, AMP-activated, alpha 1 catalytic subunit
severity
IMP
RGD
PMID:19486896
RGD:6484540
NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
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Ptgs1
prostaglandin-endoperoxide synthase 1
IEP ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:microglia, macrophage,
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:endothelial cell
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptn
pleiotrophin
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:9814819
RGD:9831448
NCBI chr 6:36,691,863...36,787,114
Ensembl chr 6:36,691,864...36,787,155
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Qki
quaking, KH domain containing RNA binding
ISO
RGD
PMID:22740327
RGD:10045997
NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783
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Rangrf
RAN guanine nucleotide release factor
ISO
RGD
PMID:8557821
RGD:6771380
NCBI chr11:68,863,310...68,866,011
Ensembl chr11:68,863,310...68,866,011
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Rhoa
ras homolog family member A
severity
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IEP
mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:
RGD
PMID:11733372
RGD:13208549
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Shh
sonic hedgehog
ISO IEP
RGD
PMID:15892298 PMID:18991353
RGD:12801423 , RGD:12801440
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23547115
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slpi
secretory leukocyte peptidase inhibitor
treatment
IDA
RGD
PMID:22436018
RGD:9999395
NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015
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Sncb
synuclein, beta
ISO
RGD
PMID:12496452
RGD:730073
NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408
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Srsf9
serine and arginine-rich splicing factor 9
treatment
ISO
RGD
PMID:20616573
RGD:11040805
NCBI chr 5:115,465,236...115,471,139
Ensembl chr 5:115,465,236...115,471,139
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Stat1
signal transducer and activator of transcription 1
IDA
RGD
PMID:22066025
RGD:6483041
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Stat3
signal transducer and activator of transcription 3
IDA IMP
RGD
PMID:22066025 PMID:17878325
RGD:6483041 , RGD:6892946
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:11240014
RGD:7207888
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:increased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfb2
transforming growth factor, beta 2
ISO
mRNA, protein:decreased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Timp3
tissue inhibitor of metalloproteinase 3
ISO
protein:increased expression:spinal cord
RGD
PMID:15878627
RGD:1559178
NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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Tlr2
toll-like receptor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:11421579
RGD:12904661
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:12196270
RGD:1580348
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
treatment
IDA IMP
RGD
PMID:21318047 PMID:21287548
RGD:8158064 , RGD:13210791
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:decreased expression:Cerebrospinal Fluid: mRNA,protein:decreased expression:spinal cord:
RGD
PMID:12387457 PMID:17083617 PMID:17083617
RGD:634258 , RGD:7421596 , RGD:7421596
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vip
vasoactive intestinal polypeptide
IMP
RGD
PMID:20978211
RGD:5685386
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Aars1
alanyl-tRNA synthetase 1
ISO
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 chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296
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Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
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Alms1
ALMS1, centrosome and basal body associated
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899
NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:47,602,540...47,619,112
Ensembl chr X:47,608,162...47,619,109
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Pycr2
pyrroline-5-carboxylate reductase family, member 2
ISO
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 PMID:28496993 More...
NCBI chr 1:180,731,839...180,735,653
Ensembl chr 1:180,731,858...180,735,653
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Polr1c
polymerase (RNA) I polypeptide C
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 | ClinVar Annotator: match by term: POLR1C-related disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 PMID:22563501 PMID:22855961 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:29644095 PMID:30311386 PMID:30505682 PMID:30957429 PMID:31019026 PMID:32042905 PMID:33176815 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 More...
NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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Xpo5
exportin 5
ISO
ClinVar Annotator: match by term: POLR1C-related disorder
ClinVar
PMID:25741868
NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
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Vps11
VPS11, CORVET/HOPS core subunit
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234
NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967
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Hikeshi
heat shock protein nuclear import factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13
OMIM CTD ClinVar
PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665
NCBI chr 7:89,567,893...89,590,446
Ensembl chr 7:89,566,737...89,590,412
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Ufm1
ubiquitin-fold modifier 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 PMID:34573312 More...
NCBI chr 3:53,760,797...53,771,228
Ensembl chr 3:53,760,797...53,771,251
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Eprs1
glutamyl-prolyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217
NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557
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Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16
OMIM ClinVar
PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 PMID:28492532 PMID:29186371 PMID:29194508 PMID:29444210 PMID:32572497 PMID:32595021 More...
NCBI chr 6:13,069,758...13,089,268
Ensembl chr 6:13,069,758...13,089,268
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Aimp2
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29215095
NCBI chr 5:143,839,522...143,846,657
Ensembl chr 5:143,839,522...143,846,665
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Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17
ClinVar
PMID:25741868
NCBI chr 5:143,803,586...143,839,535
Ensembl chr 5:143,803,543...143,841,069
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Degs1
delta 4-desaturase, sphingolipid 1
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18
OMIM ClinVar
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544
NCBI chr 1:182,103,529...182,110,366
Ensembl chr 1:182,103,337...182,110,369
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Tmem63a
transmembrane protein 63a
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition
OMIM ClinVar
PMID:25741868 PMID:31587869 PMID:33785861
NCBI chr 1:180,769,899...180,802,671
Ensembl chr 1:180,769,909...180,802,677
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Gcdh
glutaryl-Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2
ClinVar
PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 PMID:17622945 PMID:25741868 PMID:28302372 PMID:28492532 More...
NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550
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Gjc2
gap junction protein, gamma 2
ISO IAGP IMP
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1 OMIM:608804 DNA:mutations:multiple (human) DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human) DNA:missense mutation:cds:p.M282T (mouse) DNA:snp:5' utr:c.-167A>G (human) DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25059390 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:29906362 PMID:31028937 PMID:31912665 PMID:32488064 PMID:32581362 PMID:33190326 PMID:34055681 PMID:34445196 PMID:35807022 PMID:18094336 PMID:16707726 PMID:21750683 PMID:21959080 PMID:15192806 More...
RGD:13208581 , RGD:13208580 , RGD:13208533 , RGD:13208526 , RGD:13208525
NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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Snap29
synaptosomal-associated protein 29
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2
ClinVar
PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 PMID:31748968 PMID:33977139 More...
NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20
OMIM ClinVar
PMID:25741868 PMID:32128616
NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
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Polr3k
polymerase (RNA) III (DNA directed) polypeptide K
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21
OMIM ClinVar
PMID:25741868 PMID:30584594
NCBI chr 2:181,506,153...181,512,623
Ensembl chr 2:181,506,130...181,512,623
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Cldn11
claudin 11
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22
OMIM ClinVar
PMID:25741868 PMID:33313762
NCBI chr 3:31,204,069...31,218,475
Ensembl chr 3:31,204,069...31,218,473
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Rnf220
ring finger protein 220
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
OMIM ClinVar
PMID:10881263 PMID:25741868 PMID:33964137 PMID:36083980
NCBI chr 4:117,128,660...117,354,249
Ensembl chr 4:117,128,660...117,354,249
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Atp11a
ATPase, class VI, type 11A
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24
OMIM ClinVar
PMID:34403372
NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
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Tmem163
transmembrane protein 163
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25
OMIM ClinVar
PMID:25741868 PMID:35455965 PMID:35953447
NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285
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Polr1c
polymerase (RNA) I polypeptide C
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
ClinVar
PMID:35325049
NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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Slc35b2
solute carrier family 35, member B2
ISO
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
ClinVar OMIM
PMID:35325049
NCBI chr17:45,874,844...45,878,597
Ensembl chr17:45,874,800...45,878,597
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Polr1a
polymerase (RNA) I polypeptide A
ISO
OMIM
NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919
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Aimp1
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30486714 PMID:30828585 PMID:30924036 PMID:31618474 PMID:32531460 More...
NCBI chr 3:132,366,259...132,390,151
Ensembl chr 3:132,366,242...132,390,131
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Hspd1
heat shock protein 1 (chaperonin)
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 DNA:mutation:exon: g.1512A>G(p.D29G)(human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 PMID:18571143 More...
RGD:12910473
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4
ClinVar
PMID:29389947
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Cdca7l
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr12:117,807,209...117,842,441
Ensembl chr12:117,768,024...117,842,441
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778
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Hycc1
hyccin PI4KA lipid kinase complex subunit 1
ISO
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 PMID:17928815 PMID:18022865 PMID:20301737 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:25741868 PMID:28492532 More...
NCBI chr 5:24,120,274...24,235,694
Ensembl chr 5:24,120,274...24,235,688
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Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Rapgef5
Rap guanine nucleotide exchange factor (GEF) 5
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr12:117,480,146...117,723,472
Ensembl chr12:117,480,099...117,723,472
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Sp4
trans-acting transcription factor 4
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr12:118,195,421...118,265,211
Ensembl chr12:118,198,668...118,265,175
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 5:24,043,942...24,049,143
Ensembl chr 5:24,043,942...24,049,159
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Tubb4a
tubulin, beta 4A class IVA
ISO IAGP
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
OMIM ClinVar MouseDO
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23190606 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25697102 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:26795593 PMID:27538619 PMID:28275661 PMID:28492532 PMID:28592043 PMID:28791129 PMID:28973395 PMID:29451896 PMID:30079973 PMID:31692161 PMID:32581362 PMID:33027950 PMID:33597727 PMID:34514881 More...
NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 PMID:23552953 PMID:24595525 PMID:25085752 PMID:25186627 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26787654 PMID:26845104 PMID:27443514 PMID:27621404 PMID:27751358 PMID:27779110 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28495237 PMID:28944238 PMID:29368341 PMID:29520813 PMID:29922827 PMID:29945567 PMID:30128536 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30426508 PMID:30613976 PMID:30680046 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31341520 PMID:31398194 PMID:31447099 PMID:31784482 PMID:31948886 PMID:32227564 PMID:32658311 PMID:32805687 PMID:32830346 PMID:32881420 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33193653 PMID:33471991 PMID:34072659 PMID:34271781 PMID:34637943 PMID:35128723 PMID:35245693 PMID:35643632 PMID:36136322 PMID:36315097 PMID:37449874 PMID:37628581 More...
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Gucy2e
guanylate cyclase 2e
ISO
ClinVar Annotator: match by term: POLR3-related leukodystrophy
ClinVar
PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26626312 PMID:28224992 PMID:28492532 More...
NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:27852030 PMID:28334938 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29451896 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30838315 PMID:30847471 PMID:30898877 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32342562 PMID:32373668 PMID:32483275 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:33972714 PMID:34284285 PMID:34395528 PMID:34583988 PMID:34589056 PMID:36140376 PMID:36344503 PMID:36385762 PMID:37077564 PMID:37237429 More...
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Polr3b
polymerase (RNA) III (DNA directed) polypeptide B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD ClinVar
PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042
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Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar
PMID:22855961 PMID:25741868 PMID:27029625
NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome
ClinVar
PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Polr3b
polymerase (RNA) III (DNA directed) polypeptide B
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 PMID:26204956 PMID:26478204 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:29141312 PMID:30548255 PMID:31221184 PMID:31969655 PMID:32180488 PMID:32319736 PMID:32342562 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042
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Rars1
arginyl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9
OMIM CTD ClinVar
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30791064 PMID:31737794 PMID:31814314 PMID:33515434 More...
NCBI chr11:35,699,207...35,725,355
Ensembl chr11:35,699,208...35,725,333
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Dars1
aspartyl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
OMIM CTD ClinVar
PMID:23643384 PMID:25527264 PMID:25741868 PMID:28492532
NCBI chr 1:128,291,444...128,345,153
Ensembl chr 1:128,291,444...128,345,105
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Anxa11
annexin A11
ISO
ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities
OMIM ClinVar
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 PMID:34048612 More...
NCBI chr14:25,842,575...25,887,228
Ensembl chr14:25,842,580...25,887,228
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Abcc9
ATP-binding cassette, sub-family C member 9
ISO
ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome
OMIM ClinVar
PMID:1575858 PMID:9536098 PMID:15034580 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24439875 PMID:25741868 PMID:26112015 PMID:27532257 PMID:28341588 PMID:28492532 PMID:29016939 PMID:30177324 PMID:30662450 PMID:30821013 PMID:30975432 PMID:31130284 PMID:31575858 PMID:31983221 PMID:32622958 PMID:33500567 PMID:34076677 PMID:34281161 PMID:35653365 More...
NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041
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Alg12
ALG12 alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:12217961 PMID:21315133 PMID:28492532
NCBI chr15:88,689,448...88,703,498
Ensembl chr15:88,689,447...88,703,521
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Cdh23
cadherin related 23 (otocadherin)
ISO
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Cnga3
cyclic nucleotide gated channel alpha 3
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:11536077 PMID:17693388 PMID:23972307 PMID:25741868 PMID:26992781 PMID:28492532 More...
NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
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Galc
galactosylceramidase
ISO IMP IAGP
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell CTD Direct Evidence: marker/mechanism OMIM:245200
OMIM ClinVar CTD MouseDO RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8399327 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:9536098 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16199547 PMID:16607461 PMID:16759875 PMID:17576681 PMID:17579360 PMID:17824908 PMID:18846620 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24388568 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25640679 PMID:25741868 PMID:25741915 PMID:25956830 PMID:26108647 PMID:26223439 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27171547 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27617109 PMID:27638583 PMID:27638592 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28337550 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28855403 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30729410 PMID:30777126 PMID:31053700 PMID:31093932 PMID:31185936 PMID:31240153 PMID:31319225 PMID:31350907 PMID:31395954 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32064984 PMID:32089546 PMID:32295525 PMID:32342562 PMID:32411386 PMID:32576985 PMID:32677356 PMID:32860008 PMID:32912261 PMID:32973651 PMID:33178108 PMID:33190188 PMID:33547378 PMID:33832819 PMID:34012265 PMID:34065072 PMID:34445196 PMID:34449528 PMID:35013804 PMID:35286032 PMID:35419325 PMID:35654103 PMID:36113749 PMID:37597066 PMID:2120388 More...
RGD:38599167
NCBI chr12:98,168,543...98,226,565
Ensembl chr12:98,168,553...98,225,718
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Psap
prosaposin
IAGP ISO
OMIM:245200 ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
MouseDO ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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Spata7
spermatogenesis associated 7
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:25741868
NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074
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Tgm1
transglutaminase 1, K polypeptide
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:9326318 PMID:25741868 PMID:25766764 PMID:27025581 PMID:28492532 PMID:30578701 PMID:32597326 More...
NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618
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Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 PMID:36237624 PMID:37761957 More...
NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 PMID:36237624 PMID:37761957 More...
NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119
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Clcn2
chloride channel, voltage-sensitive 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy with ataxia
CTD OMIM ClinVar
PMID:9536098 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:17576681 PMID:17762171 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:23707145 PMID:25128180 PMID:25741868 PMID:26539602 PMID:28337550 PMID:28492532 PMID:28905383 PMID:31069529 PMID:31589614 PMID:32173090 PMID:32906206 PMID:36435927 More...
NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
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Cenpl
centromere protein L
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
ClinVar
NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17384640 PMID:17576681 PMID:19592391 PMID:21493805 PMID:21749991 PMID:21815884 PMID:22843165 PMID:23065766 PMID:23216004 PMID:23652419 PMID:24005482 PMID:24030952 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:26327357 PMID:26620921 PMID:28017220 PMID:28492532 PMID:30006346 PMID:30352563 PMID:31589614 PMID:32571458 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228
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Scp2
sterol carrier protein 2, liver
ISO
ClinVar Annotator: match by term: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16685654 PMID:17576681 PMID:25741868 PMID:26497993 PMID:28492532 PMID:33098801 PMID:35872528 More...
NCBI chr 4:107,901,027...108,002,168
Ensembl chr 4:107,901,036...108,002,195
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Ankle2
ankyrin repeat and LEM domain containing 2
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:25741868
NCBI chr 5:110,378,847...110,404,517
Ensembl chr 5:110,378,870...110,404,513
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Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:25741868
NCBI chr X:56,276,845...56,384,119
Ensembl chr X:56,276,845...56,384,089
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Eif2b1
eukaryotic translation initiation factor 2B, subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD ClinVar
PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26285592 PMID:28492532 PMID:31882561 PMID:32865661 PMID:33334879 PMID:34663487 More...
NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194
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Eif2b2
eukaryotic translation initiation factor 2B, subunit 2 beta
ISO
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 PMID:15060152 PMID:15136673 PMID:15776425 PMID:16199547 PMID:18263758 PMID:19625339 PMID:20301435 PMID:21307862 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:22729508 PMID:22992991 PMID:24033266 PMID:25031760 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26740508 PMID:27159321 PMID:28041799 PMID:28492532 PMID:29632131 PMID:29700822 PMID:29706645 PMID:30266093 PMID:31438897 PMID:33432707 PMID:34745209 PMID:35897042 PMID:11704758 More...
RGD:734925
NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402
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Eif2b3
eukaryotic translation initiation factor 2B, subunit 3
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
ClinVar
PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19909266 PMID:20301435 PMID:22312164 PMID:23932106 PMID:24028880 PMID:25079571 PMID:25326635 PMID:25741868 PMID:25761052 PMID:26162493 PMID:26467025 PMID:28492532 PMID:31072091 PMID:31418856 PMID:31692161 PMID:32180488 PMID:33432707 PMID:33517449 PMID:34755279 PMID:36380532 PMID:37981684 More...
NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503
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Eif2b4
eukaryotic translation initiation factor 2B, subunit 4 delta
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy OMIM:603896
CTD ClinVar MouseDO
PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16199547 PMID:16807905 PMID:16998732 PMID:18263758 PMID:20016818 PMID:22430157 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:27812215 PMID:28008009 PMID:28334938 PMID:28492532 PMID:32071834 PMID:32180488 PMID:32962729 PMID:33432707 PMID:34745209 PMID:35389136 PMID:35860328 PMID:36380532 More...
NCBI chr 5:31,344,902...31,350,483
Ensembl chr 5:31,344,902...31,350,774
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO IAGP
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM:603896 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 PMID:14572143 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15670229 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16807905 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18519871 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:19909266 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21560189 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25457085 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:25843247 PMID:25989649 PMID:26112719 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671108 PMID:26901872 PMID:27651498 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28334938 PMID:28492532 PMID:28914269 PMID:28939701 PMID:28953922 PMID:29933199 PMID:29995139 PMID:30315562 PMID:30755392 PMID:31418856 PMID:32293553 PMID:33432707 PMID:34745209 PMID:34751098 PMID:35389136 PMID:11704758 More...
RGD:734925
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Mlh3
mutL homolog 3
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:25741868
NCBI chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373
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Eif2b1
eukaryotic translation initiation factor 2B, subunit alpha
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
OMIM ClinVar
PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More...
NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194
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Eif2b3
eukaryotic translation initiation factor 2B, subunit 3
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31072091
NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 PMID:18005052 PMID:19158808 PMID:21560189 PMID:22699478 PMID:25741868 PMID:25761052 PMID:27779215 PMID:28492532 PMID:29933199 PMID:29995139 PMID:33432707 PMID:35389136 More...
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Eif2b2
eukaryotic translation initiation factor 2B, subunit 2 beta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2
OMIM ClinVar
PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:18263758 PMID:20301435 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:22729508 PMID:24033266 PMID:25031760 PMID:25741868 PMID:25843247 PMID:27159321 PMID:28041799 PMID:28492532 PMID:29700822 PMID:30266093 PMID:31438897 PMID:33432707 More...
NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402
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Eif2b3
eukaryotic translation initiation factor 2B, subunit 3
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3
OMIM ClinVar
PMID:11835386 PMID:15776425 PMID:18263758 PMID:19158808 PMID:20301435 PMID:22312164 PMID:23932106 PMID:25079571 PMID:25741868 PMID:25761052 PMID:28492532 PMID:31418856 PMID:33517449 More...
NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503
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Eif2b4
eukaryotic translation initiation factor 2B, subunit 4 delta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4
OMIM ClinVar
PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 PMID:18263758 PMID:20016818 PMID:25089094 PMID:25600065 PMID:25741868 PMID:25843247 PMID:28492532 PMID:29331873 PMID:32071834 PMID:33432707 PMID:35389136 More...
NCBI chr 5:31,344,902...31,350,483
Ensembl chr 5:31,344,902...31,350,774
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Eif2b1
eukaryotic translation initiation factor 2B, subunit alpha
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:11835386 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194
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Eif2b3
eukaryotic translation initiation factor 2B, subunit 3
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:25741868 PMID:28492532 PMID:31072091
NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
OMIM ClinVar
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21484434 PMID:21560189 PMID:21676421 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:26112719 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26901872 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28492532 PMID:28914269 PMID:28939701 PMID:29933199 PMID:29995139 PMID:32293553 PMID:33432707 PMID:34745209 PMID:35389136 More...
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32197074 PMID:33236446 PMID:33553620 PMID:35146068 More...
NCBI chr17:79,157,933...79,190,001
Ensembl chr17:79,159,993...79,190,002
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Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32197074
NCBI chr 5:143,803,586...143,839,535
Ensembl chr 5:143,803,543...143,841,069
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, porphyria-related
OMIM ClinVar
PMID:1577472 PMID:2243128 PMID:2246851 PMID:2246852 PMID:6985467 PMID:7962538 PMID:9199558 PMID:11055586 PMID:12372055 PMID:12773194 PMID:15003823 PMID:15534187 PMID:15643298 PMID:19207107 PMID:23815679 PMID:25741868 PMID:27539938 PMID:27558376 PMID:28492532 PMID:29360981 PMID:30766957 PMID:32197664 PMID:34089223 More...
NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness
OMIM ClinVar
PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 PMID:25330800 PMID:25356970 PMID:25741868 PMID:26741492 PMID:27243033 PMID:28492532 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30369941 PMID:30715177 PMID:31116475 PMID:32730690 PMID:33260297 PMID:33942428 PMID:34172899 More...
NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955
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Hepacam
hepatocyte cell adhesion molecule
ISO IAGP
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 chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871
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Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
ISO
CTD Direct Evidence: marker/mechanism 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 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15832614 PMID:15992519 PMID:16199547 PMID:16470554 PMID:16504440 PMID:16652334 PMID:17077634 PMID:18757878 PMID:19168821 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22382567 PMID:22405205 PMID:22416245 PMID:22737209 PMID:22975760 PMID:23793458 PMID:24315536 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25634434 PMID:25741868 PMID:25796299 PMID:26392452 PMID:27081509 PMID:27264811 PMID:27322623 PMID:28492532 PMID:29758562 PMID:31302377 PMID:32056211 PMID:33084218 PMID:34504271 More...
NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210
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Gstt2
glutathione S-transferase, theta 2
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
ClinVar
PMID:25741868
NCBI chr10:75,667,676...75,673,253
Ensembl chr10:75,666,948...75,673,258
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Hepacam
hepatocyte cell adhesion molecule
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE
ClinVar
PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382
NCBI chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871
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Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
ISO IAGP
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE OMIM:604004
OMIM ClinVar MouseDO
PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15832614 PMID:15992519 PMID:16199547 PMID:16470554 PMID:16504440 PMID:16652334 PMID:17077634 PMID:17576681 PMID:18757878 PMID:18821826 PMID:19168821 PMID:20301707 PMID:20560255 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22328087 PMID:22382567 PMID:22405205 PMID:22416245 PMID:22737209 PMID:22975760 PMID:23079554 PMID:23793458 PMID:23851226 PMID:24315536 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25634434 PMID:25741868 PMID:25767710 PMID:25796299 PMID:25919557 PMID:26349194 PMID:26392452 PMID:27081509 PMID:27264811 PMID:27322623 PMID:28492532 PMID:28588848 PMID:28840990 PMID:29667716 PMID:29758562 PMID:31069529 PMID:31302377 PMID:32056211 PMID:32209057 PMID:33084218 PMID:34504271 PMID:34918859 More...
NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210
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Hepacam
hepatocyte cell adhesion molecule
ISO
ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A
OMIM ClinVar
PMID:21419380 PMID:25044933 PMID:25741868 PMID:26633542 PMID:28492532 PMID:31372844 More...
NCBI chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871
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Hepacam
hepatocyte cell adhesion molecule
ISO
ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 PMID:28492532 PMID:30763456 PMID:31372844 More...
NCBI chr 9:37,278,652...37,297,868
Ensembl chr 9:37,278,647...37,297,871
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Gprc5b
G protein-coupled receptor, family C, group 5, member B
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3
OMIM ClinVar
PMID:37143309
NCBI chr 7:118,571,263...118,594,434
Ensembl chr 7:118,571,270...118,594,434
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Aqp4
aquaporin 4
ISO
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
OMIM ClinVar
PMID:25741868 PMID:37143309
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Adm2
adrenomedullin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,206,923...89,208,934
Ensembl chr15:89,206,923...89,208,934
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Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
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Alg12
ALG12 alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,689,448...88,703,498
Ensembl chr15:88,689,447...88,703,521
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Alms1
ALMS1, centrosome and basal body associated
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735
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Arsa
arylsulfatase A
ISO IAGP
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe CTD Direct Evidence: marker/mechanism OMIM:249900 | OMIM:250100
ClinVar CTD MouseDO OMIM RGD
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2299327 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7749412 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9272717 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9536098 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:9888390 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15710861 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17413447 PMID:17438611 PMID:17560502 PMID:17576681 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20141713 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21080229 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22854541 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25344692 PMID:25482214 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28749476 PMID:28762252 PMID:28799099 PMID:28923328 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29961769 PMID:29966168 PMID:30026549 PMID:30052522 PMID:30057904 PMID:30293248 PMID:30652456 PMID:30674982 PMID:30828547 PMID:30834272 PMID:30967997 PMID:31069529 PMID:31130284 PMID:31149247 PMID:31186049 PMID:31312839 PMID:31410132 PMID:31664448 PMID:31694723 PMID:31922587 PMID:31922725 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32034743 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:32875726 PMID:33046606 PMID:33138774 PMID:33185815 PMID:33335837 PMID:33385934 PMID:33855715 PMID:34276053 PMID:34490615 PMID:34554397 PMID:36240581 PMID:36324388 PMID:37480112 PMID:15026521 PMID:15375602 More...
RGD:1358434 , RGD:1358435
NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628
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Arsb
arylsulfatase B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 More...
NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524
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Brd1
bromodomain containing 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436
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Cdh23
cadherin related 23 (otocadherin)
ISO
ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Chkb
choline kinase beta
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111
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Cimap1b
ciliary microtubule associated protein 1B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,261,652...89,263,817
Ensembl chr15:89,261,652...89,263,790
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Clcn1
chloride channel, voltage-sensitive 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:28492532 PMID:34529042
NCBI chr 6:42,263,552...42,292,693
Ensembl chr 6:42,263,619...42,292,690
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Cpt1b
carnitine palmitoyltransferase 1b, muscle
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,300,608...89,310,065
Ensembl chr15:89,300,608...89,310,066
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Creld2
cysteine-rich with EGF-like domains 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,703,849...88,710,884
Ensembl chr15:88,703,849...88,710,886
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Dennd6b
DENN domain containing 6B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,066,416...89,080,793
Ensembl chr15:89,066,416...89,080,699
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Eif2b5
eukaryotic translation initiation factor 2B, subunit 5 epsilon
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 PMID:16607506 PMID:16927025 PMID:20203002 PMID:25541721 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:34659341 PMID:36681081 More...
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
PMID:25741868
NCBI chr X:72,986,400...73,011,430
Ensembl chr X:72,986,398...73,009,963
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Hdac10
histone deacetylase 10
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,007,506...89,012,903
Ensembl chr15:89,007,510...89,012,903
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899
NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955
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Klhdc7b
kelch domain containing 7B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,268,262...89,274,025
Ensembl chr15:89,269,120...89,273,070
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Lmf2
lipase maturation factor 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,235,203...89,239,860
Ensembl chr15:89,235,207...89,239,862
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Mal
myelin and lymphocyte protein, T cell differentiation protein
ISO
RGD
PMID:15193296
RGD:1358761
NCBI chr 2:127,475,146...127,498,615
Ensembl chr 2:127,475,146...127,498,615
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Mapk11
mitogen-activated protein kinase 11
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,026,685...89,033,809
Ensembl chr15:89,026,689...89,033,831
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Mapk12
mitogen-activated protein kinase 12
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,014,787...89,025,270
Ensembl chr15:89,014,787...89,024,906
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Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,338,114...89,346,650
Ensembl chr15:89,338,116...89,348,671
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Miox
myo-inositol oxygenase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,218,676...89,221,210
Ensembl chr15:89,218,601...89,221,218
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Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210
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Mov10l1
Mov10 like RISC complex RNA helicase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,867,094...88,939,355
Ensembl chr15:88,867,112...88,939,355
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Ncaph2
non-SMC condensin II complex, subunit H2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,239,920...89,257,030
Ensembl chr15:89,239,922...89,257,029
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Panx2
pannexin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,941,797...88,957,769
Ensembl chr15:88,943,937...88,957,770
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Pim3
proviral integration site 3
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,746,397...88,749,929
Ensembl chr15:88,746,389...88,749,929
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Plxnb2
plexin B2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,039,752...89,064,960
Ensembl chr15:89,039,752...89,064,991
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Polr3a
polymerase (RNA) III (DNA directed) polypeptide A
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
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Ppp6r2
protein phosphatase 6, regulatory subunit 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,095,654...89,171,218
Ensembl chr15:89,095,756...89,171,213
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Psap
prosaposin
IAGP ISO
OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
MouseDO ClinVar
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:34649574 PMID:35456468 More...
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:47,602,540...47,619,112
Ensembl chr X:47,608,162...47,619,109
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Sbf1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514
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Sco2
SCO2 cytochrome c oxidase assembly protein
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049
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Selenoo
selenoprotein O
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,973,241...88,984,542
Ensembl chr15:88,973,287...88,984,543
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Syce3
synaptonemal complex central element protein 3
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,274,377...89,294,706
Ensembl chr15:89,274,377...89,294,706
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Trabd
TraB domain containing
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,960,267...88,971,278
Ensembl chr15:88,959,327...88,971,280
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Ttll8
tubulin tyrosine ligase-like family, member 8
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,773,981...88,839,258
Ensembl chr15:88,774,836...88,838,621
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Tubgcp6
tubulin, gamma complex component 6
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315
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Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Zbed4
zinc finger, BED type containing 4
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr15:88,635,856...88,668,719
Ensembl chr15:88,635,863...88,668,719
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Cdh23
cadherin related 23 (otocadherin)
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Psap
prosaposin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
CTD OMIM ClinVar
PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:15944902 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:25741868 PMID:26462614 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:35456468 More...
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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App
amyloid beta precursor protein
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:1677459
RGD:10054257
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
treatment
ISO
RGD
PMID:21279683
RGD:10449132
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Il2
interleukin 2
severity
ISO
protein:increased secretion:mononuclear cell:
RGD
PMID:8586980
RGD:10047081
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
A2m
alpha-2-macroglobulin
ISO
RGD
PMID:11498265
RGD:1549857
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
G
Acan
aggrecan
ISO
protein:altered expression:central nervous system, plaque (human)
RGD
PMID:11764092
RGD:2315836
NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
G
Ache
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:20714168
RGD:5686885
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
G
Ager
advanced glycosylation end product-specific receptor
susceptibility
ISO
DNA:polymorphism:cds:p.G82S rs2070600 (human)
RGD
PMID:21511691
RGD:6767562
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agt
angiotensinogen
ISO
protein:decreased expression:brain,astrocyte:
RGD
PMID:17715340
RGD:13432361
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
Aim2
absent in melanoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:173,177,105...173,293,606
Ensembl chr 1:173,178,445...173,293,606
G
Apoa1
apolipoprotein A-I
ISO
protein:increased expression: serum
RGD
PMID:20350318
RGD:5508215
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
G
Apoc2
apolipoprotein C2
ISO
RGD
PMID:10335523
RGD:1358408
NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
G
Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15048896 PMID:15118671
RGD:1331525
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
G
B4galt5
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr 2:167,140,364...167,191,155
Ensembl chr 2:167,140,364...167,191,103
G
B4galt6
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20122907
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
G
Bcl2l2
BCL2-like 2
ISO
mRNA:decreased expression:brain:
RGD
PMID:24270187
RGD:14394512
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
G
Bdnf
brain derived neurotrophic factor
onset
ISO
protein:decreased expression:serum
RGD
PMID:20656764
RGD:5684915
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
Cacna1b
calcium channel, voltage-dependent, N type, alpha 1B subunit
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
G
Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
G
Cav1
caveolin 1, caveolae protein
ISO
DNA:repeats, haplotypes:multiple
RGD
PMID:19828204
RGD:8661778
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
G
Cblb
Casitas B-lineage lymphoma b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
G
Ccl1
C-C motif chemokine ligand 1
ISO
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
G
Ccl12
C-C motif chemokine ligand 12
ISO
DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226
G
Ccl2
C-C motif chemokine ligand 2
ISO
DNA:SNPs, haplotype
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:brain, frontal cortex (human)
RGD
PMID:11091283
RGD:4890028
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccl7
C-C motif chemokine ligand 7
ISO
mRNA,protein:increased expression:brain DNA:polymorphism:promoter
RGD
PMID:9655469 PMID:12127674
RGD:6483814 , RGD:6483818
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:21427490
RGD:6892919
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human) ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression protein:increased expression:blood, cerebrospinal fluid
ClinVar RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:12451219 PMID:12111306 More...
RGD:1358460 , RGD:8551829
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd24a
CD24a antigen
ISO
RGD
PMID:14657362
RGD:1358462
NCBI chr10:43,454,433...43,460,261
Ensembl chr10:43,454,280...43,460,261
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Cd28
CD28 antigen
ISO
DNA:SNP:promoter:-372G>A (human)
RGD
PMID:14975605
RGD:1358478
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd40
CD40 antigen
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD RGD
PMID:19525955 PMID:20634952 PMID:20190274
RGD:5490971 , RGD:5490975
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cd46
CD46 antigen, complement regulatory protein
ISO
RGD
PMID:21177319
RGD:6483460
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
G
Cd6
CD6 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953 PMID:24076602
NCBI chr19:10,766,703...10,807,427
Ensembl chr19:10,766,705...10,807,422
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Cd86
CD86 antigen
susceptibility
ISO
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
RGD
PMID:26531698
RGD:11354964
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cd96
CD96 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr16:45,856,015...45,940,611
Ensembl chr16:45,856,020...45,940,614
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Cdk17
cyclin dependent kinase 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr10:92,996,492...93,086,956
Ensembl chr10:92,996,737...93,102,933
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Cfh
complement component factor h
no_association
ISO
RGD
PMID:21618592
RGD:5684555
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Ciita
class II transactivator
susceptibility no_association
ISO
DNA:polymorphism:exon:c.1632G>C, rs4774 (human) DNA:polymorphism:promoter:-168A>G (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD
PMID:21653641 PMID:15821736 PMID:16426246
RGD:5491175 , RGD:1358146 , RGD:5491189
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Cldn11
claudin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25911099
NCBI chr 3:31,204,069...31,218,475
Ensembl chr 3:31,204,069...31,218,473
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Clec16a
C-type lectin domain family 16, member A
ISO
DNA:polymorphism:intron:g.194570G>A, rs7184083 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18946483 PMID:19525955 PMID:21653641
RGD:5491175
NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
G
Cmah
cytidine monophospho-N-acetylneuraminic acid hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:24,511,387...24,661,272
Ensembl chr13:24,511,387...24,661,360
G
Cmpk2
cytidine/uridine monophosphate kinase 2
ISO
mRNA:altered expression:PMN cell (human)
RGD
PMID:20136355
RGD:5133255
NCBI chr12:26,519,121...26,529,836
Ensembl chr12:26,519,203...26,529,836
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:19473295 PMID:18676363
RGD:6483339 , RGD:6483346
NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12876144
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
G
Cntf
ciliary neurotrophic factor
onset
ISO
RGD
PMID:11890844
RGD:1626112
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
G
Col1a1
collagen, type I, alpha 1
ISO
mRNA:increased expression:brain
RGD
PMID:20456365
RGD:5688302
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
G
Cst3
cystatin C
IEP ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:12589965
RGD:5686392 , RGD:5686394
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
no_association
ISO
DNA:SNPs: :rs3087243,rs11571302(human) DNA:SNP:CDS:49A>G (human)
RGD
PMID:10082437 PMID:19740340 PMID:17942509
RGD:1358538 , RGD:7411672 , RGD:2301975
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Ctsb
cathepsin B
IEP ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:11134381
RGD:5686392 , RGD:5686395
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Ctsh
cathepsin H
IEP
RGD
PMID:17086443
RGD:5686392
NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
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Ctsl
cathepsin L
IEP
RGD
PMID:17086443
RGD:5686392
NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
protein:increased expression:serum
RGD
PMID:20138139
RGD:5134999
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:9837822 PMID:25741868
NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759
G
Dusp28
dual specificity phosphatase 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:92,834,711...92,836,342
Ensembl chr 1:92,834,703...92,836,157
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12646761
RGD:8661710
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Ern1
endoplasmic reticulum to nucleus signalling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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Fas
Fas cell surface death receptor
susceptibility
ISO
protein:increased expression:white matter of brain: DNA:polymorphism:promoter:-670A>G (human)
RGD
PMID:8879222 PMID:12098516
RGD:12903947 , RGD:12903986
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
ISO
DNA:repeat:promoter:g.-46(CA)11-15 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31068361 PMID:11438180
RGD:1358622
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fcgr4
Fc receptor, IgG, low affinity IV
disease_progression
ISO
protein:increased expression:gamma-delta T cell
RGD
PMID:18155780
RGD:5508375
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gabra3
gamma-aminobutyric acid type A receptor subunit alpha 3
ISO
DNA:repeat::(CA)11-16 (human)
RGD
PMID:9561979
RGD:1358628
NCBI chr X:71,476,282...71,700,525
Ensembl chr X:71,476,287...71,700,454
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Gc
vitamin D binding protein
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebrospinal fluid protein:increased expression:plasma: DNA:SNPs:exon:p.T420K, D416E(human)
CTD RGD
PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990
RGD:5509885 , RGD:5509923 , RGD:5509922 , RGD:5509887
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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Gli1
GLI-Kruppel family member GLI1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Grm8
glutamate receptor, metabotropic 8
ISO
protein:increased expression:astrocyte, microglia, macrophage
RGD
PMID:15589052
RGD:6771187
NCBI chr 6:27,275,120...28,135,094
Ensembl chr 6:27,275,118...28,135,177
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Grn
granulin
ISO
protein:increased expression:macrophage, microglia
RGD
PMID:21613335
RGD:5509591
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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Gstm1
glutathione S-transferase, mu 1
disease_progression susceptibility onset
ISO
DNA:deletion: : DNA:deletion: : (human) DNA:deletion:: (human)
RGD
PMID:10680782 PMID:17437619 PMID:23932298
RGD:5490267 , RGD:12792249 , RGD:12792225
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstm3
glutathione S-transferase, mu 3
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
G
Gstm5
glutathione S-transferase, mu 5
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
G
Gstp1
glutathione S-transferase, pi 1
disease_progression
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10680782
RGD:5490267
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
no_association
ISO
DNA:deletion:: (human)
RGD
PMID:23932298 PMID:10680782
RGD:12792225 , RGD:5490267
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21741664
RGD:5147555
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-DQB1*06 (human)
OMIM CTD RGD
PMID:21741664 PMID:21908482 PMID:20463743
RGD:5147555 , RGD:7421588 , RGD:5147658
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea
histocompatibility 2, class II antigen E alpha
ISO
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter (human)
CTD RGD
PMID:17660530 PMID:19834503 PMID:10527398
RGD:5490202 , RGD:5490204
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
G
H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility onset
ISO
DNA:polymorphism: :HLA-DRB*1501 (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphism: :HLA-DRB1*0801 (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)
ClinVar OMIM CTD RGD
PMID:25741868 PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 PMID:21440682 PMID:21664963 More...
RGD:5147555 , RGD:5147580 , RGD:5147573 , RGD:5147564 , RGD:5147559
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:SNP:exon: rs17368528 (human)
RGD
PMID:19935835
RGD:6784513
NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:cytoplasm:
RGD
PMID:20037577
RGD:9590131
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
G
Hsp90ab1
heat shock protein 90 alpha (cytosolic), class B member 1
ISO
RGD
PMID:14688203
RGD:5686803
NCBI chr17:45,878,704...45,884,187
Ensembl chr17:45,878,701...45,884,197
G
Hspa8
heat shock protein 8
ISO
protein: increased expression: cerebrospinal fluid
RGD
PMID:16303141
RGD:6480236
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifnb1
interferon beta 1, fibroblast
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 PMID:15389896 More...
RGD:401854232
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Ifng
interferon gamma
susceptibility
ISO
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:9818947
RGD:1358738
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf2
insulin-like growth factor 2
ISO
protein:increased expression:macrophage
RGD
PMID:10417663
RGD:5510017
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23517930
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il12a
interleukin 12a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il13
interleukin 13
severity
ISO
protein:increased expression:serum protein:increased expression:cerebrospinal fluid
RGD
PMID:22031307 PMID:21677024
RGD:5684368 , RGD:8549589
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:21455110
RGD:8698672
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1b
interleukin 1 beta
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:15210533 PMID:25458313 PMID:10025794
RGD:1358741
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il21r
interleukin 21 receptor
ISO
DNA:polymorphisms: :
RGD
PMID:20072140 PMID:21281812
RGD:6892695 , RGD:6892963
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
RGD
PMID:18368064 PMID:24547735
RGD:8549631 , RGD:8549632
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
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Il2ra
interleukin 2 receptor, alpha chain
ISO
DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193
RGD:2311526
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il4
interleukin 4
onset
ISO
DNA:repeat:intron 3:allele B1 (human)
RGD
PMID:9184650
RGD:1358745
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra
interleukin 4 receptor, alpha
ISO
RGD
PMID:14712310
RGD:4890395
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il6
interleukin 6
severity treatment
ISO
DNA:polymorphism:promoter:-572 G>C(human) DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23202972 PMID:24155968 PMID:26285213
RGD:12791288 , RGD:12792202 , RGD:11079567
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17660816
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3
CTD ClinVar
PMID:17660530 PMID:17660816 PMID:17660817 PMID:19525955 PMID:21664875 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:28436970 PMID:28492532 PMID:32576985 PMID:32765500 More...
NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
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Irf5
interferon regulatory factor 5
susceptibility
ISO
DNA:SNPs: :rs3807306, rs4728142 (human)
RGD
PMID:25392335 PMID:20861862
RGD:11055911 , RGD:40924643
NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
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Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Jag1
jagged 1
disease_progression
ISO
RGD
PMID:20805994 PMID:16934875
RGD:6482233 , RGD:6482240
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jarid2
jumonji and AT-rich interaction domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24070676
NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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Kif1b
kinesin family member 1B
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD RGD
PMID:18997785 PMID:20502484 PMID:18997785
RGD:12738463 , RGD:12738462
NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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Kif5a
kinesin family member 5A
susceptibility
ISO
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
RGD
PMID:20508602
RGD:12793067
NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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Klhl6
kelch-like 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr16:19,765,242...19,801,766
Ensembl chr16:19,765,246...19,801,787
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Klk6
kallikrein related-peptidase 6
IEP
RGD
PMID:11802715
RGD:2314867
NCBI chr 7:43,473,967...43,481,219
Ensembl chr 7:43,473,923...43,481,454
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Lrch1
leucine-rich repeats and calponin homology (CH) domain containing 1
IAGP
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
MouseDO
NCBI chr14:74,992,113...75,185,447
Ensembl chr14:74,992,115...75,185,316
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Lrrc8c
leucine rich repeat containing 8 family, member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 5:105,666,850...105,760,884
Ensembl chr 5:105,667,254...105,760,884
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Mag
myelin-associated glycoprotein
ISO
RGD
PMID:2419505
RGD:9685292
NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
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Mbp
myelin basic protein
ISO
RGD
PMID:1691612
RGD:1358488
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mcam
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024
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Mmp12
matrix metallopeptidase 12
susceptibility
ISO
DNA:SNP:promoter:-82A>G (human)
RGD
PMID:19628284
RGD:13204795
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp9
matrix metallopeptidase 9
no_association susceptibility
ISO
mRNA:increased expression:blood, mononuclear cell DNA:SNP, repeat:promoter:-1562C>T (human) DNA:repeat, SNP:promoter DNA:SNP:promoter:-1562C>T (human)
RGD
PMID:23401127 PMID:20471697 PMID:10713364 PMID:19628284
RGD:13204754 , RGD:13204848 , RGD:13204826 , RGD:13204795
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mog
myelin oligodendrocyte glycoprotein
ISO
RGD
PMID:17142321
RGD:9685374
NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
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Mphosph9
M-phase phosphoprotein 9
susceptibility
ISO
DNA:snp:intron:122222678G>T rs1790100 (human)
RGD
PMID:19879194
RGD:2316985
NCBI chr 5:124,389,022...124,466,001
Ensembl chr 5:124,389,022...124,466,035
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mt-Atp6
ATP synthase 6, mitochondrial
ISO
DNA:transition:cds:m.9055A>G (human) DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD
PMID:18708297 PMID:17619138
RGD:5490259 , RGD:5490263
NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
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mt-Atp8
ATP synthase 8, mitochondrial
ISO
DNA:point mutation: :m.8406C>T (human)
RGD
PMID:17619138
RGD:5490263
NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
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mt-Nd1
NADH dehydrogenase 1, mitochondrial
ISO
DNA:amplification:cds:cerebral gray matter (human)
RGD
PMID:18566918
RGD:5490252
NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
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mt-Nd2
NADH dehydrogenase 2, mitochondrial
ISO
DNA:SNP::m.4917A>G (human)
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951
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Nabp1
nucleic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:51,504,127...51,517,634
Ensembl chr 1:51,505,021...51,517,584
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
RGD
PMID:18682780
RGD:6482255
NCBI chr 1:171,062,426...171,078,956
Ensembl chr 1:171,062,422...171,078,957
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Nectin2
nectin cell adhesion molecule 2
severity no_association
ISO
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple
CTD RGD
PMID:16738668 PMID:16738668 PMID:17376543
RGD:6767558 , RGD:6767565
NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408
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Nedd9
neural precursor cell expressed, developmentally down-regulated gene 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:41,463,392...41,640,836
Ensembl chr13:41,463,057...41,640,838
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Nefh
neurofilament, heavy polypeptide
severity
ISO
RGD
PMID:16764346
RGD:27226808
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
disease_progression
ISO
protein:increased expresssion:serum (human) protein:increased expression:serum (human)
RGD
PMID:31383792 PMID:33317883
RGD:127284875 , RGD:127285024
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein:increased expression:reactive astrocytes, microglia/macrophages (human)
RGD
PMID:11829348
RGD:5508481
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nono
non-POU-domain-containing, octamer binding protein
ISO
mRNA:altered expression:peripheral blood mononuclear cell (human)
RGD
PMID:29100048
RGD:156420155
NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197
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Notch4
notch 4
ISO
DNA: snps: cds: rs422951
RGD
PMID:21654846
RGD:6480692
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:27253448
NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
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P2rx7
purinergic receptor P2X, ligand-gated ion channel, 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17728465
NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495
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Pdcd1
programmed cell death 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:12402038 PMID:15912506
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Phactr2
phosphatase and actin regulator 2
ISO
DNA: snp: : rs1015340
RGD
PMID:20546594
RGD:6483093
NCBI chr10:13,083,461...13,350,266
Ensembl chr10:13,083,461...13,350,156
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
protein:increased expression:plasma
RGD
PMID:22246459
RGD:6482783
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Pnmt
phenylethanolamine-N-methyltransferase
ISO
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493(human)
RGD
PMID:11958827
RGD:1358561
NCBI chr11:98,277,449...98,279,006
Ensembl chr11:98,277,276...98,279,007
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Polg
polymerase (DNA directed), gamma
ISO
DNA:missense mutations:cds:
RGD
PMID:20837861
RGD:8694283
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2843795 PMID:9664777
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Prf1
perforin 1 (pore forming protein)
IMP IAGP ISO
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) protein:increased expression:blood, T cell
MouseDO RGD
PMID:19680139 PMID:20921521 PMID:22001684
RGD:6482805 , RGD:6482820 , RGD:6482817
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:white matter,astrocyte:
RGD
PMID:19716418
RGD:10412736
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
ISO
RGD
PMID:20174631
RGD:6483446
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
no_association
ISO
DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:15934099
RGD:6484550
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Ptprc
protein tyrosine phosphatase receptor type C
ISO
DNA:snp:exon:c.77C>G (human)
RGD
PMID:11101853
RGD:1358566
NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25853421
NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704
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Rgma
repulsive guidance molecule family member A
ISO
DNA:SNPs:intron: (rs997941, rs34925346) (human)
RGD
PMID:20072140
RGD:6892695
NCBI chr 7:73,025,268...73,069,647
Ensembl chr 7:73,025,257...73,069,647
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Rhoa
ras homolog family member A
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Rnf19a
ring finger protein 19A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr15:36,240,080...36,283,293
Ensembl chr15:36,240,079...36,283,293
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Rnf217
ring finger protein 217
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
NCBI chr10:31,377,883...31,485,721
Ensembl chr10:31,369,189...31,485,180
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Sele
selectin, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Sh2d2a
SH2 domain containing 2A
susceptibility
ISO
DNA:repeat:promoter:-341(GA)13-33 (human) DNA:polymorphism:promoter
RGD
PMID:18554728 PMID:11528519
RGD:2298871 , RGD:1358573
NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029
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Shh
sonic hedgehog
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
no_association
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD RGD
PMID:16597321 PMID:18973068 PMID:15584484
RGD:5684937 , RGD:5684960
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Spp1
secreted phosphoprotein 1
ISO
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum
RGD
PMID:11721059 PMID:15885319
RGD:1581329 , RGD:1581472
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Sys1
SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility no_association
ISO
DNA:synonymous mutation: : DNA:SNPs:CDs:p.V379I, A565T(human)
RGD
PMID:7759306 PMID:7797617 PMID:7928442
RGD:6482279 , RGD:6482281 , RGD:6482280
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cerebrospinal fluid, mononuclear cell
RGD
PMID:18644848
RGD:2312575
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
disease_progression no_association
ISO IAGP
OMIM:612594 | OMIM:612595 | OMIM:612596 DNA:SNP:promoter:-308G>A (human)
MouseDO RGD
PMID:8964914 PMID:9270614 PMID:8887999
RGD:7401237 , RGD:12904657 , RGD:12904068
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
DNA:SNP:intron: (rs1800693) (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 PMID:28492532 PMID:22801493 More...
RGD:8661741
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfsf14
tumor necrosis factor (ligand) superfamily, member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr17:57,496,437...57,501,182
Ensembl chr17:57,496,492...57,501,177
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Tnfsf9
tumor necrosis factor (ligand) superfamily, member 9
ISO
protein:increased expression:plasma, monocyte (human)
RGD
PMID:16970683
RGD:2317352
NCBI chr17:57,412,113...57,414,757
Ensembl chr17:57,412,325...57,414,757
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Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:34,831,762...34,851,784
Ensembl chr 2:34,831,762...34,851,784
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :rs731236,rs7975232(human) DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD RGD
PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 PMID:21664963 More...
RGD:1331525 , RGD:11530654 , RGD:13210790 , RGD:11353119 , RGD:5147559
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vhl
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:36,205,233...36,224,491
Ensembl chr 3:36,205,166...36,224,491
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Rab11b
RAB11B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29106825
NCBI chr17:33,961,458...33,979,460
Ensembl chr17:33,961,458...33,979,504
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Nacc1
nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NACC1-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
OMIM CTD ClinVar
PMID:25741868 PMID:28132692 PMID:28492532
NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531
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Mthfs
5, 10-methenyltetrahydrofolate synthetase
ISO
ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30031689
NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766
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Mthfsl
5, 10-methenyltetrahydrofolate synthetase-like
ISO
ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
ClinVar
PMID:25741868 PMID:28492532 PMID:30031689
NCBI chr 9:88,567,696...88,602,381
Ensembl chr 9:88,570,655...88,602,349
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Gad1
glutamate decarboxylase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
ClinVar
PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32282878 PMID:32705143 PMID:33634263 More...
NCBI chr 2:70,392,109...70,432,358
Ensembl chr 2:70,383,416...70,432,358
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Hpdl
4-hydroxyphenylpyruvate dioxygenase-like
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
OMIM CTD ClinVar
PMID:9084927 PMID:9973289 PMID:25741868 PMID:32707086 PMID:33188300 PMID:33634263 PMID:33970200 More...
NCBI chr 4:116,677,104...116,678,705
Ensembl chr 4:116,677,101...116,678,904
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Taf8
TATA-box binding protein associated factor 8
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
ClinVar OMIM
PMID:25741868 PMID:29648665 PMID:35759269
NCBI chr17:47,794,289...47,813,216
Ensembl chr17:47,794,289...47,813,217
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Aqp4
aquaporin 4
disease_progression
ISO IDA IMP IEP
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:22271321 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696034 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Cd59b
CD59b antigen
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nefh
neurofilament, heavy polypeptide
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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S100b
S100 protein, beta polypeptide, neural
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Aqp4
aquaporin 4
ISO
RGD
PMID:17468440
RGD:8698645
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Bex1
brain expressed X-linked 1
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,114,721...135,116,262
Ensembl chr X:135,114,721...135,116,262
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Bex3
brain expressed X-linked 3
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,171,002...135,172,727
Ensembl chr X:135,171,002...135,172,727
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Esx1
extraembryonic, spermatogenesis, homeobox 1
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:136,016,146...136,022,880
Ensembl chr X:136,016,146...136,022,832
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Fam199x
family with sequence similarity 199, X-linked
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:135,950,343...135,983,252
Ensembl chr X:135,950,343...135,983,252
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Gjc2
gap junction protein, gamma 2
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225
NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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H2bw2
H2B.W histone 2
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:135,828,074...135,829,122
Ensembl chr X:135,828,074...135,829,125
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Il1rapl2
interleukin 1 receptor accessory protein-like 2
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:136,471,503...137,749,826
Ensembl chr X:136,471,357...137,747,695
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Lmnb1
lamin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:56,840,885...56,886,496
Ensembl chr18:56,840,885...56,886,496
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Morf4l2
mortality factor 4 like 2
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
NCBI chr X:135,633,691...135,644,435
Ensembl chr X:135,633,691...135,644,439
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Plp1
proteolipid protein (myelin) 1
ISO IAGP
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild OMIM:312080 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A246T (human)
OMIM ClinVar MouseDO CTD RGD
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12325077 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:18571143 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 PMID:10425042 More...
RGD:1358559
NCBI chr X:135,720,897...135,739,331
Ensembl chr X:135,723,420...135,740,482
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Rab9b
RAB9B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild
ClinVar
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12325077 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 More...
NCBI chr X:135,758,896...135,769,305
Ensembl chr X:135,758,896...135,769,504
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Slc22a13b
solute carrier family 22 (organic cation transporter), member 13b
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
NCBI chr 9:119,049,557...119,060,758
Ensembl chr 9:119,049,554...119,060,800
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Slc25a53
solute carrier family 25, member 53
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:135,881,865...135,939,051
Ensembl chr X:135,881,865...135,939,051
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Tceal1
transcription elongation factor A (SII)-like 1
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
NCBI chr X:135,608,731...135,610,622
Ensembl chr X:135,608,731...135,612,227
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Tceal3
transcription elongation factor A (SII)-like 3
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
NCBI chr X:135,491,586...135,569,127
Ensembl chr X:135,491,591...135,569,127
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Tceal5
transcription elongation factor A (SII)-like 5
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,101,697...135,104,633
Ensembl chr X:135,101,697...135,104,625
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Tceal7
transcription elongation factor A (SII)-like 7
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,124,790...135,126,849
Ensembl chr X:135,115,528...135,126,849
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Tceal8
transcription elongation factor A (SII)-like 8
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,069,733...135,073,000
Ensembl chr X:135,069,733...135,073,091
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Tceal9
transcription elongation factor A like 9
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:31690835
NCBI chr X:135,145,829...135,147,888
Ensembl chr X:135,145,828...135,147,888
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Zcchc18
zinc finger, CCHC domain containing 18
ISO
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
NCBI chr X:135,893,128...135,899,221
Ensembl chr X:135,893,904...135,899,221
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Col4a1
collagen, type IV, alpha 1
ISO
ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
ClinVar OMIM
PMID:906807 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:15221337 PMID:16199547 PMID:17078022 PMID:17576681 PMID:19344236 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25326635 PMID:25425218 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:27666438 PMID:28369186 PMID:28442301 PMID:28492532 PMID:29770612 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:32732225 PMID:33353976 PMID:33527515 PMID:34120799 PMID:35711275 More...
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Kat6b
K(lysine) acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
ClinVar
PMID:25741868
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29483653
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif 14
ISO
DNA:SNPs:intron: A>G, C>G (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
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Bche
butyrylcholinesterase
ISO
RGD
PMID:20122907
RGD:5687690
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Cd274
CD274 antigen
severity
IMP
RGD
PMID:21494618
RGD:6893669
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Gc
vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid:
RGD
PMID:20093204
RGD:5509869
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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Grn
granulin
susceptibility
ISO
protein:increased expression:cerebrospinal fluids DNA:SNPs: :rs2879096, rs4792938(human)
RGD
PMID:21613335 PMID:20463744
RGD:5509591 , RGD:5509596
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
severity
ISO
DNA:polymorphism: :HLA-DQB1*0602 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
severity
ISO
DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:15732261
RGD:1626118
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Il4ra
interleukin 4 receptor, alpha
ISO
DNA:missense mutation:cds:p.Q551R (human)
RGD
PMID:11164908
RGD:1358313
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:14504963
RGD:13204808
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Polg
polymerase (DNA directed), gamma
ISO
ClinVar Annotator: match by term: Primary progressive multiple sclerosis
ClinVar
PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28480171 PMID:28492532 PMID:32504279 More...
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Shh
sonic hedgehog
ISO
RGD
PMID:12926841
RGD:12801414
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Aars2
alanyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
OMIM CTD ClinVar
PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:28492532 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31885218 PMID:33972171 PMID:35084689 PMID:35305867 More...
NCBI chr17:45,817,473...45,831,769
Ensembl chr17:45,817,767...45,831,769
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Polr1c
polymerase (RNA) I polypeptide C
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
ClinVar
PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:28492532 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31885218 PMID:33972171 PMID:35084689 PMID:35305867 More...
NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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Nefl
neurofilament, light polypeptide
ISO
associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human)
RGD
PMID:33903203 PMID:30761586
RGD:127284888 , RGD:127285025
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency
ClinVar
PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 PMID:31922725 PMID:32632536 PMID:37480112 More...
NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624384
NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif 14
ISO
DNA:SNP:intron: C>T (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
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Apoa4
apolipoprotein A-IV
onset
ISO
protein:decreased expression:cerebrospinal fluid (human)
RGD
PMID:19383442
RGD:5685649
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15096402 PMID:34624384
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Cd36
CD36 molecule
ISO
RGD
PMID:20855355
RGD:6893496
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd80
CD80 antigen
ISO
protein:increased expression:blood, B cell
RGD
PMID:21310664
RGD:6893670
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:10976643
RGD:5686865
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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Ctss
cathepsin S
ISO
mRNA, protein:increased expression:blood, leukocyte
RGD
PMID:21143385
RGD:5687146
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:intron:735T>C(human)
RGD
PMID:15218339
RGD:12903953
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Grn
granulin
disease_progression
ISO
protein:increased expression:cerebrospinal fluids
RGD
PMID:21613335
RGD:5509591
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:15153541
RGD:5128853
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Hspa8
heat shock protein 8
ISO
protein: increased expression
RGD
PMID:21824468
RGD:5688780
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
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Klc1
kinesin light chain 1
susceptibility
ISO
DNA:SNP:intron:56836G>C (rs8702) (human)
RGD
PMID:17999208
RGD:5684008
NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278
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Mmp19
matrix metallopeptidase 19
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:11438176
RGD:1642025
NCBI chr10:128,626,779...128,636,696
Ensembl chr10:128,626,779...128,636,693
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nefh
neurofilament, heavy polypeptide
treatment
ISO
RGD
PMID:15222692
RGD:27226879
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
associated with relapse;protein:increased expression:serum (human) protein:increased expression:CSF (human)
RGD
PMID:30761586 PMID:33658322
RGD:127285025 , RGD:127285027
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Nod2
nucleotide-binding oligomerization domain containing 2
disease_progression
ISO
DNA:SNPs: :rs3135499,rs2066842(human)
RGD
PMID:20595247
RGD:13204725
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Nog
noggin
ISO
mRNA,protein:decreased expression:mononuclear cell"
RGD
PMID:21111488
RGD:12801480
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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S100b
S100 protein, beta polypeptide, neural
ISO
protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:12076997
RGD:5508822
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:10739162
RGD:13208510
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Timp1
tissue inhibitor of metalloproteinase 1
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192
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Gm53191
predicted gene, 53191
ISO
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192
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Trex1
three prime repair exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
CTD OMIM ClinVar
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802
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Rpia
ribose 5-phosphate isomerase A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase | ClinVar Annotator: match by term: Ribose-5-P isomerase deficiency
OMIM CTD ClinVar
PMID:10589548 PMID:14988808 PMID:20499043 PMID:25741868 PMID:28492532 PMID:30088433 PMID:31056085 More...
NCBI chr 6:70,742,704...70,769,159
Ensembl chr 6:70,742,704...70,769,216
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Ndufa2
NADH:ubiquinone oxidoreductase subunit A2
ISO
ClinVar Annotator: match by term: Cystic Leukoencephalopathy
ClinVar
PMID:25741868 PMID:27159321 PMID:28857146
NCBI chr18:36,875,385...36,877,640
Ensembl chr18:36,875,385...36,877,610
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Rnaset2a
ribonuclease T2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly
OMIM CTD ClinVar
PMID:19525954 PMID:25741868 PMID:28492532
NCBI chr17:8,347,412...8,367,078
Ensembl chr17:8,334,277...8,366,929
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Tmco6
transmembrane and coiled-coil domains 6
ISO
ClinVar Annotator: match by term: Cystic Leukoencephalopathy
ClinVar
PMID:25741868 PMID:27159321 PMID:28857146
NCBI chr18:36,868,072...36,875,453
Ensembl chr18:36,868,092...36,875,450
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Mars2
methionine-tRNA synthetase 2 (mitochondrial)
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic ataxia 3
OMIM CTD ClinVar
PMID:22448145 PMID:25741868 PMID:28492532
NCBI chr 1:55,276,336...55,279,217
Ensembl chr 1:55,276,336...55,287,629
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Sacs
sacsin
ISO
ClinVar Annotator: match by term: Autosomal recessive spastic ataxia
ClinVar
PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 PMID:25741868 More...
NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Vps37a
vacuolar protein sorting 37A
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
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App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:25741868 PMID:26242991 PMID:26467025 PMID:27312774 PMID:28492532 PMID:33268848 More...
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
RGD
PMID:24448401
RGD:14696801
NCBI chr18:77,861,468...77,870,569
Ensembl chr18:77,861,429...77,870,569
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192
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Avp
arginine vasopressin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
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Bdnf
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24622829
RGD:10059369
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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C1rb
complement component 1, r subcomponent B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:33268848 PMID:35307828
NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:33268848
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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Ccm2
cerebral cavernous malformation 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848 PMID:35307828
NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744
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Cdk5
cyclin dependent kinase 5
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528
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Chmp2b
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612
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Col4a1
collagen, type IV, alpha 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:33268848 PMID:35307828
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a2
collagen, type IV, alpha 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
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Colgalt1
collagen beta(1-O)galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 8:72,063,631...72,077,555
Ensembl chr 8:72,063,642...72,077,555
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Creb1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:27923588
RGD:401960869
NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
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Diaph1
diaphanous related formin 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129
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Eif4e
eukaryotic translation initiation factor 4E
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 3:138,231,952...138,265,457
Ensembl chr 3:138,231,940...138,265,457
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Epo
erythropoietin
ISO
RGD
PMID:17037738
RGD:10400891
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Fgfr1
fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Flt1
FMS-like tyrosine kinase 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Gclm
glutamate-cysteine ligase, modifier subunit
susceptibility
ISO
associated with stroke;DNA:polymorphism:promoter:-588C>T(human)
RGD
PMID:17548779
RGD:10402374
NCBI chr 3:122,039,206...122,060,864
Ensembl chr 3:122,039,206...122,064,381
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Gm53191
predicted gene, 53191
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24968700
RGD:11352822
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Grin1
glutamate receptor, ionotropic, NMDA1 (zeta 1)
ISO
associated with Alzheimer's disease
RGD
PMID:25261450
RGD:13792687
NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199
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Grin2a
glutamate receptor, ionotropic, NMDA2A (epsilon 1)
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar RGD
PMID:35307828 PMID:25261450
RGD:13792687
NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
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Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
severity
ISO
RGD
PMID:25261450
RGD:13792687
NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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Gsk3b
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446
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Hspa1a
heat shock protein 1A
ISO
DNA:polymorphism: :-110A>C(human)
RGD
PMID:15832029
RGD:10402403
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
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Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:24500651 PMID:25741868 PMID:33268848 PMID:35307828
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Igf1
insulin-like growth factor 1
severity
ISO
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16181175 PMID:22342912
RGD:1598446 , RGD:10045864
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Igf1r
insulin-like growth factor I receptor
ISO
RGD
PMID:16983186
RGD:10045873
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Il1b
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:16600299
RGD:1626633
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
G
Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
G
Mapk1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:24070657
RGD:405096669
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
G
Mapt
microtubule-associated protein tau
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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Mir143
microRNA 143
treatment exacerbates
ISO
RGD
PMID:36459592 PMID:36459592
RGD:155882588 , RGD:155882588
NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:16385583
RGD:1582624
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Mthfr
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Mtor
mechanistic target of rapamycin kinase
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
G
Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
G
Nmnat2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007
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Notch3
notch 3
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 PMID:25741868 PMID:25914166 PMID:26308724 PMID:26467025 PMID:27844030 PMID:28492532 PMID:30032161 PMID:30402942 PMID:30532056 PMID:33268848 PMID:33310205 PMID:34841502 PMID:35822697 More...
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
G
Nox1
NADPH oxidase 1
treatment
ISO
RGD
PMID:24294978
RGD:329955573
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
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Nppa
natriuretic peptide type A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
G
Pcnt
pericentrin (kendrin)
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620
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Pde9a
phosphodiesterase 9A
treatment
IMP
RGD
PMID:30916555
RGD:242905183
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Polg
polymerase (DNA directed), gamma
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Pon2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.C311S (human)
RGD
PMID:11803456
RGD:1580219
NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455
G
Prnp
prion protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
G
Psen2
presenilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:26522186 PMID:33268848
NCBI chr 1:180,054,569...180,091,030
Ensembl chr 1:180,054,569...180,091,003
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Rpgrip1l
Rpgrip1-like
susceptibility
ISO
DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)
RGD
PMID:22425971
RGD:13204815
NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
G
Rps6
ribosomal protein S6
treatment
ISO
RGD
PMID:25767501
RGD:11041644
NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649
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Sdhaf1
succinate dehydrogenase complex assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19465911
NCBI chr 7:30,020,834...30,021,800
Ensembl chr 7:30,020,831...30,023,320
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Slc20a2
solute carrier family 20, member 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628
G
Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Snca
synuclein, alpha
ISO
protein:increased expression:cerebrospinal fluid ClinVar Annotator: match by term: Vascular dementia
ClinVar RGD
PMID:35307828 PMID:18577885
RGD:6478792
NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
G
Sncg
synuclein, gamma
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
G
Srebf2
sterol regulatory element binding factor 2
ISO
DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human)
RGD
PMID:16082694
RGD:1581412
NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580
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Sst
somatostatin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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Thsd1
thrombospondin, type I, domain 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
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Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 6:13,069,758...13,089,268
Ensembl chr 6:13,069,758...13,089,268
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:polymorphism:promoter:-850C>T(human)
RGD
PMID:11273064
RGD:13825254
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802
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Trp53
transformation related protein 53
ISO
protein:increased expression:brain
RGD
PMID:18083315
RGD:2290557
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:35307828
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Tubb2a
tubulin, beta 2A class IIA
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr13:34,258,261...34,261,991
Ensembl chr13:34,258,257...34,261,990
G
Ubqln2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr X:152,281,228...152,284,558
Ensembl chr X:152,281,223...152,284,566
G
Vps13a
vacuolar protein sorting 13A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297
G
Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
OMIM CTD ClinVar
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
G
Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
ClinVar
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:47,602,540...47,619,112
Ensembl chr X:47,608,162...47,619,109
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16109
disease of anatomical entity
15681
nervous system disease
13560
central nervous system disease
12125
brain disease
11386
Leukoencephalopathies
533
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
1
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
1
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
3
Cerebroretinal Microangiopathy with Calcifications and Cysts +
4
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
1
Demyelinating Autoimmune Diseases, CNS +
302
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
3
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
1
Hereditary Central Nervous System Demyelinating Diseases +
126
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
1
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
1
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
1
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
1
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
1
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
1
Labrune Syndrome
3
Leukoencephalopathy with Ataxia
1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
2
Leukoencephalopathy with Dystonia and Motor Neuropathy
1
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
0
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
1
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
1
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
2
Oculopharyngeal Myopathy with Leukoencephalopathy 1
0
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
2
Posterior Leukoencephalopathy Syndrome
1
RNASET2-deficient cystic leukoencephalopathy
3
Ribose 5-Phosphate Isomerase Deficiency
1
Telencephalic Leukoencephalopathy
0
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
2
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
3
brain small vessel disease 1
3
combined oxidative phosphorylation deficiency 12
2
hypomyelinating leukoencephalopathy
0
inclusion body myopathy and brain white matter abnormalities
1
leukoencephalopathy with vanishing white matter +
8
progressive leukoencephalopathy with ovarian failure
2
progressive multifocal leukoencephalopathy
1
spastic ataxia 3
2
vascular dementia +
75