RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | Leukoencephalopathies |
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Accession: | DOID:9002704
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browse the term
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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 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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Bdnf |
brain-derived neurotrophic factor |
treatment |
IEP |
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RGD |
PMID:24322053 |
RGD:10045369 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
treatment |
IDA |
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RGD |
PMID:24322053 |
RGD:10045369 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20385946 |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Csf1r |
colony stimulating factor 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197934 |
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11148247 |
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NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Eif2b5 |
eukaryotic translation initiation factor 2B subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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Fnip2 |
folliculin interacting protein 2 |
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ISO |
Hypomyelination of the central nervous system |
OMIA |
PMID:676669 PMID:731520 PMID:3577694 PMID:20973788 PMID:24272703 |
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NCBI chr 2:164,596,557...164,708,147
Ensembl chr 2:164,598,906...164,707,901
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Kmt2e |
lysine methyltransferase 2E |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15753437 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15753437 |
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Rhoa |
ras homolog family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31570889 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Scp2 |
sterol carrier protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685654 |
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NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11868353 |
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NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcn2 |
transcobalamin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15753437 |
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NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy |
ClinVar |
PMID:25741868 PMID:26307567 PMID:27120463 PMID:32316234 |
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NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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Ifng |
interferon gamma |
disease_progression |
ISO |
protein:increased expression:T cell: |
RGD |
PMID:11063842 |
RGD:8157598 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Nefl |
neurofilament light chain |
disease_progression |
ISO |
protein:increased expresssion:serum (human) |
RGD |
PMID:31383792 |
RGD:127284875 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism (human) DNA:polymorphism, haplotype: : |
RGD |
PMID:19722042 PMID:22786832 |
RGD:5147662, RGD:36049763 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphisms (human) DNA:polymorphism, haplotype: : |
RGD |
PMID:19722042 PMID:22786832 |
RGD:5147662, RGD:36049763 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Mag |
myelin-associated glycoprotein |
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IEP |
protein:decreased expression:optic nerve |
RGD |
PMID:9820787 |
RGD:9685300 |
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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Zc3h12a |
zinc finger CCCH type containing 12A |
disease_progression |
ISO |
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RGD |
PMID:26320658 |
RGD:11534569 |
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Slc13a3 |
solute carrier family 13 member 3 |
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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...
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NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606
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Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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Lmnb1 |
lamin B1 |
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ISO |
DNA:duplication:cds (human) ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature |
ClinVar OMIM RGD |
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 PMID:16951681 More...
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RGD:10044243 |
NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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Phax |
phosphorylated adaptor for RNA export |
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ISO |
ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823
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Tex43 |
testis expressed 43 |
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ISO |
ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr18:50,070,610...50,073,942
Ensembl chr18:50,070,610...50,073,942
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Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids |
ClinVar |
PMID:6595937 PMID:31775912 |
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids |
OMIM ClinVar |
PMID:2470618 PMID:8614507 PMID:16523341 PMID:19153373 PMID:22197934 PMID:22503135 PMID:23038421 PMID:23408870 PMID:23411710 PMID:23649896 PMID:23816250 PMID:24034409 PMID:24088041 PMID:24094860 PMID:24120500 PMID:24198292 PMID:24336230 PMID:24532199 PMID:25012610 PMID:25311247 PMID:25563800 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28824062 PMID:29389947 PMID:30268725 PMID:30528841 PMID:30661751 PMID:30982609 PMID:32055602 More...
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Aqp4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Polg |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO IAGP |
DNA:mutations:cds: ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy DNA:missense mutation:cds:p.P1073L (3218C>T) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: |
ClinVar CTD OMIM RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2725645 PMID:7847370 PMID:8884268 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:16715201 PMID:16857757 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: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: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: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:22114710 PMID:22166854 PMID:22189570 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:22863191 PMID:22931735 PMID:22933815 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:23430898 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 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:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 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:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30951992 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32502631 PMID:32703289 PMID:33469851 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34194468 PMID:34782754 PMID:35307828 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
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RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 PMID:25429852 PMID:28492532 More...
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 PMID:31439510 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly | 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 | ClinVar Annotator: match by term: Hemiplegia, infantile, with porencephaly | ClinVar Annotator: match by term: INFANTILE HEMIPARESIS | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT |
OMIM ClinVar |
PMID:6428250 PMID:7257746 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19344236 PMID:19477666 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24628545 PMID:25326635 PMID:25741868 PMID:25741869 PMID:26362372 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28166811 PMID:28492532 PMID:29602769 PMID:29927466 PMID:31230195 PMID:31857254 PMID:32033901 PMID:32042920 PMID:32488064 PMID:32732225 PMID:32818659 PMID:34906502 More...
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly | ClinVar Annotator: match by term: INFANTILE HEMIPARESIS | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Htra1 |
HtrA serine peptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Notch3 |
notch receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
CTD ClinVar |
PMID:8878478 PMID:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:16009764 PMID:16717210 PMID:17135568 PMID:19153638 PMID:19242647 PMID:19252787 PMID:20038773 PMID:20301673 PMID:20935329 PMID:21852154 PMID:23602593 PMID:23847153 PMID:24139282 PMID:24344756 PMID:24480794 PMID:24840674 PMID:25033846 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25959358 PMID:26002683 PMID:26308724 PMID:26467025 PMID:26671140 PMID:27890607 PMID:28492532 PMID:29980472 PMID:30199759 PMID:30311053 PMID:30656190 PMID:31554780 PMID:31792094 PMID:32457593 More...
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Notch3 |
notch receptor 3 |
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ISO |
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 ClinVar |
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10802804 PMID:10854111 PMID:10969905 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:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16193256 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17135568 PMID:17323840 PMID:17390743 PMID:17729386 PMID:17879445 PMID:17879447 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19539236 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21078731 PMID:21387384 PMID:21448560 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22206696 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 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:25578324 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 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: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:28166811 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28991717 PMID:29188607 PMID:29363903 PMID:29449082 PMID:29980472 PMID:30031255 PMID:30199759 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30402942 PMID:30656190 PMID:30883460 PMID:30954774 PMID:30956055 PMID:31028544 PMID:31182772 PMID:31443546 PMID:31554780 PMID:31792094 PMID:31799216 PMID:31915071 PMID:31960911 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32277177 PMID:32457593 PMID:32573853 PMID:32581362 PMID:32732295 PMID:33020014 PMID:33109952 PMID:33942994 PMID:34008892 More...
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Htra1 |
HtrA serine peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 |
OMIM ClinVar |
PMID:19387015 PMID:25741868 PMID:26063658 PMID:26467025 PMID:27164673 PMID:28492532 PMID:29561953 PMID:29895533 PMID:30981321 PMID:32101834 PMID:32581362 PMID:34220097 More...
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Htra1 |
HtrA serine peptidase 1 |
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ISO |
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 |
OMIM ClinVar |
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 More...
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NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:25843205 PMID:28492532 PMID:29111009 PMID:29228254 PMID:29481669 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:25741868 PMID:28492532 PMID:29111009 |
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
mRNA:increased expression:spinal cord (rat) |
RGD |
PMID:12098510 |
RGD:8655962 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Nefh |
neurofilament heavy chain |
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ISO |
protein:decreased expression:spinal cord: |
RGD |
PMID:12742652 |
RGD:27226817 |
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
human sequence peptide in a mouse model; associated with Herpesviridae infections |
RGD |
PMID:12811845 |
RGD:30296670 |
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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Serpine1 |
serpin family E member 1 |
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ISO |
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RGD |
PMID:17983428 |
RGD:13208507 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
OMIM ClinVar |
PMID:22492562 PMID:23008233 PMID:25741868 PMID:26780086 PMID:26893310 PMID:27290639 PMID:28492532 PMID:28748214 PMID:28748215 More...
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NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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Gga2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
OMIM ClinVar |
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:11309366 PMID:16199547 PMID:17576681 PMID:17616409 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26831127 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Kars1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy |
OMIM ClinVar |
PMID:21427441 PMID:25356970 PMID:25741868 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30311386 PMID:31116475 PMID:33260297 More...
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NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 |
OMIM ClinVar |
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 |
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NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Dentoleukoencephalopathy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Naxe |
NAD(P)HX epimerase |
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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 |
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NCBI chr 2:173,518,966...173,521,048
Ensembl chr 2:173,518,971...173,521,040
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Naxe |
NAD(P)HX epimerase |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 |
OMIM ClinVar |
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 |
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NCBI chr 2:173,518,966...173,521,048
Ensembl chr 2:173,518,971...173,521,040
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Naxd |
NAD(P)HX dehydratase |
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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:32462209 |
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NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
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G |
Fdx2 |
ferredoxin 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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G |
A2m |
alpha-2-macroglobulin |
treatment |
IDA |
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RGD |
PMID:1710603 |
RGD:10046021 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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IEP |
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RGD |
PMID:15878627 |
RGD:1559178 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Adam8 |
ADAM metallopeptidase domain 8 |
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ISO |
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RGD |
PMID:9670863 |
RGD:2325244 |
NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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G |
Aif1 |
allograft inflammatory factor 1 |
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IEP |
protein:altered expression:spinal cord (rat) |
RGD |
PMID:19246105 |
RGD:2313022 |
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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G |
Akap12 |
A-kinase anchoring protein 12 |
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IEP |
mRNA,protein:increased expression:spinal cord |
RGD |
PMID:20155814 |
RGD:14348972 |
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:15328042 |
RGD:5509618 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Amigo2 |
adhesion molecule with Ig like domain 2 |
severity |
ISO |
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RGD |
PMID:28119027 |
RGD:14392778 |
NCBI chr 7:128,391,493...128,394,589
Ensembl chr 7:128,390,412...128,394,695
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G |
Anxa1 |
annexin A1 |
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IEP |
protein:increased expression:brain, astrocyte, macrophage |
RGD |
PMID:9472682 |
RGD:2306942 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Apoe |
apolipoprotein E |
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IEP |
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RGD |
PMID:28578430 |
RGD:13703134 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Aqp4 |
aquaporin 4 |
disease_progression severity |
ISO IEP |
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RGD |
PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138 |
RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
B2m |
beta-2 microglobulin |
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ISO |
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RGD |
PMID:15837577 |
RGD:6482690 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
B4galt6 |
beta-1,4-galactosyltransferase 6 |
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ISO |
mRNA:increased expression:astrocyte |
RGD |
PMID:25216636 |
RGD:14390079 |
NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
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G |
Bdnf |
brain-derived neurotrophic factor |
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IEP |
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RGD |
PMID:23212569 |
RGD:10059360 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
C3 |
complement C3 |
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IEP |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:22320401 |
RGD:7175513 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C6 |
complement C6 |
severity |
IAGP |
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RGD |
PMID:11970970 |
RGD:625607 |
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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IEP |
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RGD |
PMID:11353727 |
RGD:1580151 |
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Calca |
calcitonin-related polypeptide alpha |
no_association |
ISO |
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RGD |
PMID:19563774 |
RGD:5684360 |
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Casp3 |
caspase 3 |
|
IEP |
protein:increased activity, increased expression:spinal cord |
RGD |
PMID:18521931 |
RGD:2311436 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
|
IEP |
protein:increased activity, increased expression:spinal cord |
RGD |
PMID:18521931 |
RGD:2311436 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
|
IEP |
protein:increased expression:spinal cord |
RGD |
PMID:18521931 |
RGD:2311436 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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|
G |
Cav3 |
caveolin 3 |
onset |
IEP |
Protein:increased expression:spinal cord, astrocyte |
RGD |
PMID:15925413 |
RGD:1582168 |
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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G |
Cblb |
Cbl proto-oncogene B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20453840 |
|
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
IEP |
mRNA:decreased expression:lymph node |
RGD |
PMID:19865101 |
RGD:4145472 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
IEP |
mRNA:increased expression:lymph node |
RGD |
PMID:19865101 |
RGD:4145472 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP |
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
IEP |
mRNA:increased expression:spinal cord |
RGD |
PMID:17666800 |
RGD:2307114 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO IEP |
protein:increased expression:brain (mouse) mRNA:increased expression:spinal cord |
RGD |
PMID:15833367 PMID:17666800 |
RGD:4890027, RGD:2307114 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
IEP IMP |
|
RGD |
PMID:14655765 PMID:14512166 |
RGD:5688165, RGD:5688167 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
IEP |
mRNA:increased expression:spinal cord |
RGD |
PMID:9655467 |
RGD:632391 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:15034073 |
RGD:6893394 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:spinal cord, macrophage, microglia (rat) |
RGD |
PMID:17484785 |
RGD:4890436 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd28 |
Cd28 molecule |
|
IMP |
|
RGD |
PMID:16061730 |
RGD:2307203 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd4 |
Cd4 molecule |
treatment |
IEP IMP |
protein:decreased expression:T lymphocyte: |
RGD |
PMID:9138014 PMID:3097071 |
RGD:10058963, RGD:10058968 |
NCBI chr 4:157,668,878...157,695,366
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G |
Cd80 |
Cd80 molecule |
|
IMP |
|
RGD |
PMID:9379015 |
RGD:6902906 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cd86 |
CD86 molecule |
resistance disease_progression |
ISO IEP |
protein:increased expression:spinal cord, blood vessel (rat) |
RGD |
PMID:10477557 PMID:20451260 |
RGD:4892227, RGD:4892207 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
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IAGP |
|
RGD |
PMID:15821736 |
RGD:1358146 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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IDA |
|
RGD |
PMID:21107918 PMID:7541143 PMID:10650887 |
RGD:6483335, RGD:6483353, RGD:6483351 |
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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G |
Comt |
catechol-O-methyltransferase |
treatment |
ISO |
|
RGD |
PMID:25242632 |
RGD:13450949 |
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Cpb2 |
carboxypeptidase B2 |
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IEP |
|
RGD |
PMID:22768796 |
RGD:7243111 |
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO IEP |
protein:increased expression:spinal cord |
RGD |
PMID:21679768 PMID:20162860 |
RGD:5686852, RGD:5686863 |
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
|
RGD |
PMID:9379015 |
RGD:6902906 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctsc |
cathepsin C |
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IEP |
|
RGD |
PMID:843913 |
RGD:1599653 |
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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G |
Ctss |
cathepsin S |
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ISO |
|
RGD |
PMID:21439785 |
RGD:5686915 |
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
|
RGD |
PMID:16053521 |
RGD:4891973 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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IEP IMP |
|
RGD |
PMID:16053521 PMID:24706865 |
RGD:4891973, RGD:9491767 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
|
RGD |
PMID:19616545 |
RGD:7257694 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
IMP |
|
RGD |
PMID:21038468 |
RGD:5135506 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Dab2 |
DAB adaptor protein 2 |
disease_progression |
IEP |
|
RGD |
PMID:21890121 |
RGD:7243155 |
NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
|
RGD |
PMID:24676147 |
RGD:150520045 |
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Dll1 |
delta like canonical Notch ligand 1 |
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ISO |
|
RGD |
PMID:17947672 |
RGD:6482235 |
NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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G |
Dusp10 |
dual specificity phosphatase 10 |
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ISO |
|
RGD |
PMID:15306813 |
RGD:7775013 |
NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
disease_progression |
IEP |
|
RGD |
PMID:19524108 |
RGD:9685491 |
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18382691 |
|
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Ern1 |
endoplasmic reticulum to nucleus signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30661753 |
|
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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G |
Esr2 |
estrogen receptor 2 |
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ISO |
|
RGD |
PMID:21565615 PMID:21182085 |
RGD:5508732, RGD:5508735 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Faslg |
Fas ligand |
treatment |
ISO |
|
RGD |
PMID:10944459 |
RGD:12903984 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
|
RGD |
PMID:12576552 |
RGD:5508383 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fgf2 |
fibroblast growth factor 2 |
|
IEP |
mRNA:increased expression:spinal cord |
RGD |
PMID:8929896 PMID:9814819 |
RGD:8655647, RGD:9831448 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
treatment |
ISO |
|
RGD |
PMID:18721816 |
RGD:10402153 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27742544 |
|
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Ghrh |
growth hormone releasing hormone |
resistance |
ISO |
|
RGD |
PMID:21846799 |
RGD:5687168 |
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
treatment |
IDA |
|
RGD |
PMID:19620309 |
RGD:12905041 |
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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|
G |
Gjc2 |
gap junction protein, gamma 2 |
|
ISO |
protein:decreased expression:white matter of spinal cord, gap junction (mouse) |
RGD |
PMID:22461072 |
RGD:13208593 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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G |
Gli1 |
GLI family zinc finger 1 |
|
ISO |
|
RGD |
PMID:18991353 |
RGD:12801440 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
mRNA, protein:decreased expression:spinal cord |
RGD |
PMID:9145307 |
RGD:6484657 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
ISO IEP |
mRNA:increased expression:spinal cord: |
RGD |
PMID:11823861 PMID:15913792 |
RGD:9686086, RGD:9686113 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO IMP |
|
RGD |
PMID:17085013 PMID:14691063 |
RGD:5508469, RGD:5508476 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Ifng |
interferon gamma |
disease_progression treatment |
ISO |
|
RGD |
PMID:15661899 PMID:22896638 |
RGD:7987912, RGD:10755692 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:7541143 |
RGD:6483353 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
treatment |
IDA |
|
RGD |
PMID:23872438 |
RGD:7364993 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
IEP |
|
RGD |
PMID:12620647 |
RGD:2316323 |
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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G |
Il12a |
interleukin 12A |
|
ISO |
|
RGD |
PMID:12471147 |
RGD:724447 |
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il12b |
interleukin 12B |
|
IEP |
mRNA, protein:increased expression:lymph node |
RGD |
PMID:19233473 |
RGD:4831840 |
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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G |
Il13 |
interleukin 13 |
severity |
ISO |
|
RGD |
PMID:18250480 PMID:7523520 |
RGD:5684366, RGD:5684367 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il16 |
interleukin 16 |
|
IMP |
|
RGD |
PMID:17641011 |
RGD:5024940 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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G |
Il17a |
interleukin 17A |
treatment |
IEP ISO IDA |
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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
|
IMP IEP |
mRNA:increased expression:spinal cord |
RGD |
PMID:9834127 PMID:9846824 |
RGD:4889543, RGD:4889542 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18r1 |
interleukin 18 receptor 1 |
|
IEP |
mRNA:increased expression:lymph node |
RGD |
PMID:19269041 |
RGD:2311529 |
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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|
G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:7593560 |
RGD:8551836 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il21 |
interleukin 21 |
|
IDA |
|
RGD |
PMID:18997868 |
RGD:5147399 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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|
G |
Il21r |
interleukin 21 receptor |
no_association disease_progression |
ISO |
|
RGD |
PMID:18546146 PMID:18353312 |
RGD:6892939, RGD:6892940 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Il22 |
interleukin 22 |
|
IEP |
|
RGD |
PMID:19269041 |
RGD:2311529 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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G |
Il27 |
interleukin 27 |
|
ISO |
protein:decreased expression:blood serum (mouse) |
RGD |
PMID:33403844 |
RGD:126790527 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IEP |
|
RGD |
PMID:19269041 |
RGD:2311529 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il4 |
interleukin 4 |
treatment |
ISO IEP |
|
RGD |
PMID:18239607 PMID:1383385 |
RGD:7829778, RGD:8142395 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
|
IEP ISO |
protein:increased expression:oligodendrocytes (rat) |
RGD |
PMID:9358769 PMID:23322593 |
RGD:2307412, RGD:12791289 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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|
G |
Itga4 |
integrin subunit alpha 4 |
treatment susceptibility |
IMP IDA |
rat bone marrow cells in a mouse model |
RGD |
PMID:12626659 PMID:18722022 |
RGD:9698418, RGD:9698436 |
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:17947672 |
RGD:6482235 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
|
RGD |
PMID:22066025 |
RGD:6483041 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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|
G |
Jak3 |
Janus kinase 3 |
treatment |
IDA |
|
RGD |
PMID:25012120 |
RGD:11533939 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
|
RGD |
PMID:19233483 |
RGD:5684404 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
|
RGD |
PMID:25972476 |
RGD:12910744 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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|
G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
protein:increased expression:cerebellum, spinal cord |
RGD |
PMID:19299462 |
RGD:13800552 |
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Lta |
lymphotoxin alpha |
|
IEP |
mRNA:increased expression:spinal cord mRNA:increased expression:brain |
RGD |
PMID:7593556 PMID:9184655 |
RGD:1625038, RGD:4143220 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Mapt |
microtubule-associated protein tau |
treatment |
IDA |
|
RGD |
PMID:15494405 |
RGD:1358431 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mbp |
myelin basic protein |
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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...
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RGD:7349334, RGD:30296670 |
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mdk |
midkine |
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IEP |
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RGD |
PMID:9814819 |
RGD:9831448 |
NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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G |
Mmp2 |
matrix metallopeptidase 2 |
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IDA |
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RGD |
PMID:19922364 |
RGD:2325703 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7 |
matrix metallopeptidase 7 |
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IEP |
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RGD |
PMID:9549496 |
RGD:8547909 |
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
protein:increased expression:multiple tissues |
RGD |
PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566 |
RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mobp |
myelin-associated oligodendrocyte basic protein |
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ISO |
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RGD |
PMID:10623862 |
RGD:27226694 |
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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Mog |
myelin oligodendrocyte glycoprotein |
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IDA ISO IEP |
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...
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RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 |
NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
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Mt1 |
metallothionein 1 |
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ISO |
mRNA:increased expression:brain (mouse) |
RGD |
PMID:19619133 |
RGD:6484112 |
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
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G |
Mt2A |
metallothionein 2A |
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ISO |
mRNA:increased expression:brain (mouse) |
RGD |
PMID:19619133 |
RGD:6484112 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mt3 |
metallothionein 3 |
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ISO |
mRNA:increased expression:brain (mouse) |
RGD |
PMID:19619133 |
RGD:6484112 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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G |
Ncam1 |
neural cell adhesion molecule 1 |
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IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:17064783 |
RGD:40924670 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Nefl |
neurofilament light chain |
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IEP |
protein:increased expression:cerebrospinal fluid, spinal cord |
RGD |
PMID:16182933 |
RGD:2299007 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19910389 |
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NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Ngf |
nerve growth factor |
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IEP |
protein, mRNA:increased expression:thalamus and cortex, CNS |
RGD |
PMID:8866783 |
RGD:5508386 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
severity |
ISO IEP |
mRNA:increased expression:central nervous system |
RGD |
PMID:16519950 PMID:8866783 |
RGD:5508312, RGD:5508386 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nos2 |
nitric oxide synthase 2 |
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ISO |
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RGD |
PMID:21857957 |
RGD:5509069 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
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ISO |
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RGD |
PMID:21266776 |
RGD:6480877 |
NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
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RGD |
PMID:17322387 |
RGD:4892331 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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IEP |
mRNA:increased expression:brain subventricular zone: |
RGD |
PMID:15589512 |
RGD:5684777 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Olig1 |
oligodendrocyte transcription factor 1 |
treatment |
ISO |
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RGD |
PMID:24941845 |
RGD:40902822 |
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
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G |
Olig2 |
oligodendrocyte transcription factor 2 |
treatment |
ISO IEP |
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RGD |
PMID:24941845 PMID:29682587 |
RGD:40902822, RGD:40902863 |
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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G |
Pdcd1 |
programmed cell death 1 |
susceptibility |
ISO |
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RGD |
PMID:24648472 |
RGD:40818258 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pdgfb |
platelet derived growth factor subunit B |
treatment |
IDA |
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RGD |
PMID:16042218 |
RGD:11080975 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
treatment |
IDA |
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RGD |
PMID:16042218 |
RGD:11080975 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
IDA |
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RGD |
PMID:16042218 |
RGD:11080975 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
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RGD |
PMID:20303183 |
RGD:6482686 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Plp1 |
proteolipid protein 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21068375 PMID:24941845 |
RGD:40902822 |
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17261635 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Prf1 |
perforin 1 |
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ISO |
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RGD |
PMID:20708278 |
RGD:6482806 |
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
severity |
ISO |
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RGD |
PMID:19486896 |
RGD:6484540 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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ISO IEP |
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:microglia, macrophage, |
RGD |
PMID:21667309 PMID:10229132 |
RGD:5688149, RGD:5688250 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO IEP |
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:endothelial cell |
RGD |
PMID:21667309 PMID:10229132 |
RGD:5688149, RGD:5688250 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ptn |
pleiotrophin |
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IEP |
mRNA:increased expression:spinal cord (rat) |
RGD |
PMID:9814819 |
RGD:9831448 |
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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G |
Qki |
QKI, KH domain containing RNA binding |
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IEP |
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RGD |
PMID:22740327 |
RGD:10045997 |
NCBI chr 1:50,387,698...50,501,568
Ensembl chr 1:50,387,698...50,498,831
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G |
Rangrf |
RAN guanine nucleotide release factor |
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IDA |
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RGD |
PMID:8557821 |
RGD:6771380 |
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
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G |
Rhoa |
ras homolog family member A |
severity |
IEP |
protein:increased expression:microglial cell, brain |
RGD |
PMID:17983427 |
RGD:2298887 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
RT1-Ba |
RT1 class II, locus Ba |
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IMP IDA |
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RGD |
PMID:18050272 PMID:16723470 PMID:9834080 |
RGD:5147622, RGD:5147639, RGD:5147666 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
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IMP IDA ISO |
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RGD |
PMID:16723470 PMID:9834080 PMID:16194572 |
RGD:5147639, RGD:5147666, RGD:5147647 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Da |
RT1 class II, locus Da |
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ISO |
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RGD |
PMID:8676084 |
RGD:5490166 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
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ISO |
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RGD |
PMID:16194572 |
RGD:5147647 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: |
RGD |
PMID:11733372 |
RGD:13208549 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Shh |
sonic hedgehog signaling molecule |
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IEP ISO |
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RGD |
PMID:15892298 PMID:18991353 |
RGD:12801423, RGD:12801440 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30661753 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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G |
Sirt1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23547115 |
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NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
treatment |
IDA |
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RGD |
PMID:22436018 |
RGD:9999395 |
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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G |
Sncb |
synuclein, beta |
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IDA |
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RGD |
PMID:12496452 |
RGD:730073 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Srsf9 |
serine and arginine rich splicing factor 9 |
treatment |
ISO |
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RGD |
PMID:20616573 |
RGD:11040805 |
NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499
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G |
Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
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RGD |
PMID:22066025 |
RGD:6483041 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
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RGD |
PMID:22066025 PMID:17878325 |
RGD:6483041, RGD:6892946 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stat4 |
signal transducer and activator of transcription 4 |
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IEP |
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RGD |
PMID:11240014 |
RGD:7207888 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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IEP |
mRNA, protein:increased expression:central nervous system |
RGD |
PMID:17204936 |
RGD:2302088 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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IEP |
mRNA, protein:decreased expression:central nervous system |
RGD |
PMID:17204936 |
RGD:2302088 |
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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IEP |
protein:increased expression:spinal cord |
RGD |
PMID:15878627 |
RGD:1559178 |
NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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G |
Tlr2 |
toll-like receptor 2 |
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IEP |
protein:increased expression:spinal cord |
RGD |
PMID:18644848 |
RGD:2312575 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
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IEP |
protein:increased expression:spinal cord |
RGD |
PMID:18644848 |
RGD:2312575 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
treatment |
IEP |
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RGD |
PMID:11421579 |
RGD:12904661 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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IDA |
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RGD |
PMID:12196270 |
RGD:1580348 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vdr |
vitamin D receptor |
treatment |
ISO |
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RGD |
PMID:21318047 PMID:21287548 |
RGD:8158064, RGD:13210791 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
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IDA ISO IEP |
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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vip |
vasoactive intestinal peptide |
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ISO |
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RGD |
PMID:20978211 |
RGD:5685386 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
Xbp1 |
X-box binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30661753 |
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NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
Leukodystrophy |
OMIA |
PMID:11596738 PMID:16026996 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 |
OMIM ClinVar |
PMID:6595937 PMID:31775912 |
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 PMID:33260297 |
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NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Pycr2 |
pyrroline-5-carboxylate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 |
OMIM ClinVar |
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 |
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NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 |
OMIM ClinVar |
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:30311386 PMID:30505682 PMID:30957429 PMID:32042905 PMID:33804237 More...
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 |
OMIM ClinVar |
PMID:25741868 PMID:26307567 PMID:27120463 PMID:27473128 PMID:28492532 PMID:32316234 More...
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NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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G |
Hikeshi |
heat shock protein nuclear import factor |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 |
OMIM ClinVar |
PMID:25741868 PMID:26545878 |
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NCBI chr 1:143,825,922...143,849,374
Ensembl chr 1:143,825,923...143,849,363
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G |
Ufm1 |
ubiquitin-fold modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 |
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NCBI chr 2:137,969,476...137,977,620
Ensembl chr 2:137,966,678...137,978,089 Ensembl chr 2:137,966,678...137,978,089
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G |
Eprs |
glutamyl-prolyl-tRNA synthetase |
|
ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29576217 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Tmem106b |
transmembrane protein 106B |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 |
OMIM ClinVar |
PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 PMID:28492532 PMID:29186371 PMID:29194508 PMID:29444210 PMID:32572497 PMID:32595021 More...
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NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
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Aimp2 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 |
OMIM ClinVar |
PMID:25741868 PMID:29215095 |
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NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769
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Degs1 |
delta(4)-desaturase, sphingolipid 1 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 |
OMIM ClinVar |
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 |
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NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664
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Tmem63a |
transmembrane protein 63a |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile |
OMIM ClinVar |
PMID:25741868 PMID:31587869 |
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NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
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Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 |
ClinVar |
PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 PMID:17622945 PMID:25741868 PMID:28302372 PMID:28492532 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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Gjc2 |
gap junction protein, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 DNA:mutations:multiple (human) DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human) DNA:missense mutation:cds:p.M282T (mouse) DNA:snp:5' utr:c.-167A>G (human) DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar 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:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064 PMID:32581362 PMID:18094336 PMID:16707726 PMID:21750683 PMID:21959080 PMID:15192806 More...
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RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Snap29 |
synaptosome associated protein 29 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 |
ClinVar |
PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 PMID:31748968 More...
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NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 |
OMIM ClinVar |
PMID:32128616 |
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NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Polr3k |
RNA polymerase III subunit K |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 |
OMIM ClinVar |
PMID:30584594 |
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NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040
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Cldn11 |
claudin 11 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 |
OMIM ClinVar |
PMID:33313762 |
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NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
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Rnf220 |
ring finger protein 220 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy |
OMIM ClinVar |
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NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
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Atp11a |
ATPase phospholipid transporting 11A |
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ISO |
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OMIM |
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NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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Aimp1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 |
OMIM ClinVar |
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 PMID:28492532 More...
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NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 DNA:mutation:exon: g.1512A>G(p.D29G)(human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 PMID:18571143 More...
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RGD:12910473 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 |
ClinVar |
PMID:29389947 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Fam126a |
family with sequence similarity 126, member A |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17928815 PMID:20301737 PMID:21911699 PMID:22749724 PMID:23998934 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
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Tubb4a |
tubulin, beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 |
OMIM ClinVar |
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:28492532 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362 More...
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NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: 4H LEUKODYSTROPHY 1 | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
OMIM ClinVar |
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:28459997 PMID:28492532 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32582862 PMID:32860008 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Polr3b |
RNA polymerase III subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
CTD 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...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
OMIM ClinVar |
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:31969655 PMID:32319736 PMID:32870266 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Rars1 |
arginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 |
OMIM ClinVar |
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30791064 More...
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NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
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Dars1 |
aspartyl-tRNA synthetase 1 |
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ISO |
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 ClinVar |
PMID:23643384 PMID:25741868 PMID:28492532 |
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NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
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Anxa11 |
annexin A11 |
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ISO |
ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities |
ClinVar OMIM |
PMID:34048612 |
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NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
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Abcc9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome |
OMIM ClinVar |
PMID:28492532 PMID:31575858 |
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Galc |
galactosylceramidase |
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ISO |
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
OMIM ClinVar RGD |
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID: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:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27617109 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:31395954 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32089546 PMID:32576985 PMID:32860008 PMID:34065072 PMID:2120388 More...
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RGD:38599167 |
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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Psap |
prosaposin |
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ISS ISO |
OMIM:245200 ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency |
MouseDO ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts |
ClinVar |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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LOC120095383 |
U8 small nucleolar RNA |
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ISO |
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts |
OMIM ClinVar |
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:31521395 PMID:33029936 More...
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NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Tmem107 |
transmembrane protein 107 |
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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:31521395 PMID:33029936 More...
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Clcn2 |
chloride voltage-gated channel 2 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with ataxia |
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:28337550 PMID:28492532 PMID:28905383 PMID:31589614 PMID:32906206 More...
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NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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Cenpl |
centromere protein L |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
ClinVar |
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NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | ClinVar Annotator: match by term: MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY |
OMIM ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:21493805 PMID:21749991 PMID:21815884 PMID:22843165 PMID:23065766 PMID:23216004 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25741868 PMID:28492532 PMID:30352563 More...
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Scp2 |
sterol carrier protein 2 |
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ISO |
ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency |
OMIM ClinVar |
PMID:16199547 PMID:16685654 PMID:25741868 PMID:26497993 PMID:28492532 PMID:33098801 More...
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NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter |
ClinVar |
PMID:25741868 |
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter |
OMIM ClinVar |
PMID:11835386 PMID:15776425 PMID:16807905 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26285592 PMID:28492532 More...
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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Eif2b2 |
eukaryotic translation initiation factor 2B subunit beta |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11704758 PMID:12707859 PMID:14566705 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:25741868 PMID:26740508 PMID:27159321 PMID:28492532 PMID:29632131 PMID:29706645 PMID:30266093 PMID:11704758 More...
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RGD:734925 |
NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353
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Eif2b3 |
eukaryotic translation initiation factor 2B subunit gamma |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter |
OMIM ClinVar |
PMID:11835386 PMID:18414213 PMID:19158808 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 More...
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NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332
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Eif2b4 |
eukaryotic translation initiation factor 2B subunit delta |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15776425 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:27812215 PMID:28008009 PMID:28492532 PMID:32180488 More...
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NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829
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G |
Eif2b5 |
eukaryotic translation initiation factor 2B subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15723074 PMID:15776425 PMID:16041584 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:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21484434 PMID:21560189 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:26112719 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671108 PMID:27665184 PMID:28306143 PMID:28492532 PMID:28939701 PMID:28953922 PMID:31418856 PMID:11704758 More...
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RGD:734925 |
NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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G |
Mlh3 |
mutL homolog 3 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter |
ClinVar |
PMID:25741868 |
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NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome |
ClinVar OMIM |
PMID:25741868 PMID:32197074 |
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NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Eif2ak1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome |
ClinVar OMIM |
PMID:25741868 PMID:32197074 |
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NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
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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:23768514 PMID:24824130 PMID:25356970 PMID:25741868 PMID:28887846 PMID:29615062 PMID:30252186 PMID:31116475 PMID:33260297 More...
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NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts |
CTD ClinVar |
PMID:21419380 PMID:25741868 PMID:28492532 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Mlc1 |
modulator of VRAC current 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts |
CTD ClinVar |
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12939431 PMID:14572144 PMID:15037685 PMID:15832614 PMID:15992519 PMID:16199547 PMID:16470554 PMID:16652334 PMID:18757878 PMID:19168821 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22405205 PMID:22416245 PMID:23793458 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25634434 PMID:25741868 PMID:27264811 PMID:27322623 PMID:28492532 PMID:31302377 More...
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NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
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ISS ISO |
OMIM:604004 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 |
MouseDO ClinVar |
PMID:25741868 PMID:29389947 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Mlc1 |
modulator of VRAC current 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 |
OMIM ClinVar |
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15992519 PMID:16199547 PMID:16470554 PMID:16504440 PMID:16652334 PMID:17077634 PMID:18757878 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:23793458 PMID:23851226 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25634434 PMID:25741868 PMID:25767710 PMID:25796299 PMID:26349194 PMID:26392452 PMID:27081509 PMID:27322623 PMID:28492532 PMID:28588848 PMID:28840990 PMID:32056211 More...
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NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A |
OMIM ClinVar |
PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability |
OMIM ClinVar |
PMID:20517947 PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Adm2 |
adrenomedullin 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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G |
Arsa |
arylsulfatase A |
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ISO |
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 |
ClinVar 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:7635478 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID: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:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 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: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: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:28762252 PMID:28799099 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29966168 PMID:30052522 PMID:30057904 PMID:30293248 PMID:30674982 PMID:30828547 PMID:31186049 PMID:31694723 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:33046606 PMID:33138774 PMID:33335837 PMID:33855715 PMID:34554397 PMID:15375602 PMID:15026521 More...
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RGD:1358435, RGD:1358434 |
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Arsb |
arylsulfatase B |
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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...
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NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Chkb |
choline kinase beta |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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G |
Cpt1b |
carnitine palmitoyltransferase 1B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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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...
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Klhdc7b |
kelch domain containing 7B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
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G |
Lmf2 |
lipase maturation factor 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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G |
Mal |
mal, T-cell differentiation protein |
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ISO |
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RGD |
PMID:15193296 |
RGD:1358761 |
NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136
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G |
Mapk8ip2 |
mitogen-activated protein kinase 8 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
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G |
Miox |
myo-inositol oxygenase |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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G |
Odf3b |
outer dense fiber of sperm tails 3B |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
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G |
Psap |
prosaposin |
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ISS ISO |
OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Metachromatic leukodystrophy |
MouseDO ClinVar |
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:18429043 PMID:18693274 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
Sbf1 |
SET binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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G |
Scp2 |
sterol carrier protein 2 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant |
ClinVar |
PMID:25741868 |
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NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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G |
Syce3 |
synaptonemal complex central element protein 3 |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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G |
Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Cdh23 |
cadherin-related 23 |
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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 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
App |
amyloid beta precursor protein |
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ISO |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:1677459 |
RGD:10054257 |
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:18938189 |
RGD:10054050 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:18938189 |
RGD:10054050 |
NCBI chr13:22,689,783...22,853,920
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G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
IEP |
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RGD |
PMID:21279683 |
RGD:10449132 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased secretion:mononuclear cell: |
RGD |
PMID:8586980 |
RGD:10047081 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
A2m |
alpha-2-macroglobulin |
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ISO |
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RGD |
PMID:11498265 |
RGD:1549857 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Acan |
aggrecan |
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ISO |
protein:altered expression:central nervous system, plaque (human) |
RGD |
PMID:11764092 |
RGD:2315836 |
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Ache |
acetylcholinesterase |
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ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20714168 |
RGD:5686885 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Ager |
advanced glycosylation end product-specific receptor |
susceptibility |
ISO |
DNA:polymorphism:cds:p.G82S rs2070600 (human) |
RGD |
PMID:21511691 |
RGD:6767562 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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ISO |
protein:decreased expression:brain,astrocyte: |
RGD |
PMID:17715340 |
RGD:13432361 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Aim2 |
absent in melanoma 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
protein:increased expression: serum |
RGD |
PMID:20350318 |
RGD:5508215 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoc2 |
apolipoprotein C2 |
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ISO |
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RGD |
PMID:10335523 |
RGD:1358408 |
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15048896 PMID:15118671 |
RGD:1331525 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
B4galt5 |
beta-1,4-galactosyltransferase 5 |
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ISO |
mRNA:increased expression:white matter |
RGD |
PMID:25216636 |
RGD:14390079 |
NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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G |
B4galt6 |
beta-1,4-galactosyltransferase 6 |
|
ISO |
mRNA:increased expression:white matter |
RGD |
PMID:25216636 |
RGD:14390079 |
NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
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G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20122907 |
|
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:24270187 |
RGD:14394512 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Bdnf |
brain-derived neurotrophic factor |
onset |
ISO |
protein:decreased expression:serum |
RGD |
PMID:20656764 |
RGD:5684915 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
|
ISO |
|
RGD |
PMID:11353727 |
RGD:1580151 |
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25458313 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Cav1 |
caveolin 1 |
|
ISO |
DNA:repeats, haplotypes:multiple |
RGD |
PMID:19828204 |
RGD:8661778 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Cblb |
Cbl proto-oncogene B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20453840 |
|
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) |
RGD |
PMID:19865101 |
RGD:4145472 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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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 chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
DNA:SNPs, haplotype |
RGD |
PMID:19865101 |
RGD:4145472 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:brain, frontal cortex (human) |
RGD |
PMID:11091283 |
RGD:4890028 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
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 chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:21427490 |
RGD:6892919 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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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:28492532 PMID:12451219 PMID:12111306 More...
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RGD:1358460, RGD:8551829 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd24 |
CD24 molecule |
|
ISO |
|
RGD |
PMID:14657362 |
RGD:1358462 |
NCBI chr20:47,074,353...47,079,662
Ensembl chr20:47,073,512...47,079,662
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G |
Cd28 |
Cd28 molecule |
|
ISO |
DNA:SNP:promoter:-372G>A (human) |
RGD |
PMID:14975605 |
RGD:1358478 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd40 |
CD40 molecule |
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cd46 |
CD46 molecule |
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ISO |
|
RGD |
PMID:21177319 |
RGD:6483460 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd6 |
Cd6 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19525953 PMID:24076602 |
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NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634
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G |
Cd86 |
CD86 molecule |
susceptibility |
ISO |
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) |
RGD |
PMID:26531698 |
RGD:11354964 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cd96 |
CD96 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
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G |
Cdk17 |
cyclin-dependent kinase 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 7:27,683,890...27,765,814
Ensembl chr 7:27,683,890...27,764,910
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G |
Cfh |
complement factor H |
no_association |
ISO |
|
RGD |
PMID:21618592 |
RGD:5684555 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Ciita |
class II, major histocompatibility complex, 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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Cldn11 |
claudin 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25911099 |
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NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
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G |
Clec16a |
C-type lectin domain containing 16A |
|
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 chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
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G |
Cmahp |
cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr17:40,557,161...40,642,350
Ensembl chr17:40,583,667...40,642,275
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G |
Cmpk2 |
cytidine/uridine monophosphate kinase 2 |
|
ISO |
mRNA:altered expression:PMN cell (human) |
RGD |
PMID:20136355 |
RGD:5133255 |
NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183
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G |
Cnp |
2',3'-cyclic nucleotide 3' phosphodiesterase |
|
ISO |
|
RGD |
PMID:19473295 PMID:18676363 |
RGD:6483339, RGD:6483346 |
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12876144 |
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NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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G |
Cntf |
ciliary neurotrophic factor |
onset |
ISO |
|
RGD |
PMID:11890844 |
RGD:1626112 |
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA:increased expression:brain |
RGD |
PMID:20456365 |
RGD:5688302 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cst3 |
cystatin C |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:17086443 PMID:12589965 |
RGD:5686392, RGD:5686394 |
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
no_association |
ISO |
DNA:SNP:CDS:49A>G (human) DNA:SNPs: :rs3087243,rs11571302(human) |
RGD |
PMID:17942509 PMID:19740340 PMID:10082437 |
RGD:2301975, RGD:7411672, RGD:1358538 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctsb |
cathepsin B |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:17086443 PMID:11134381 |
RGD:5686392, RGD:5686395 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsh |
cathepsin H |
|
ISO |
|
RGD |
PMID:17086443 |
RGD:5686392 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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G |
Ctsl |
cathepsin L |
|
ISO |
|
RGD |
PMID:17086443 |
RGD:5686392 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
|
ISO |
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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G |
Dusp28 |
dual specificity phosphatase 28 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 9:93,472,492...93,474,207
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G |
Edn1 |
endothelin 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:12646761 |
RGD:8661710 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ern1 |
endoplasmic reticulum to nucleus signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30661753 |
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NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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G |
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
no_association |
ISO |
DNA:polymorphism: :p.H131R (human) |
RGD |
PMID:12864991 |
RGD:5147977 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr3a |
Fc gamma receptor 3A |
disease_progression |
ISO |
protein:increased expression:gamma-delta T cell |
RGD |
PMID:18155780 |
RGD:5508375 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
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:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559
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G |
Gc |
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 chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
|
RGD |
PMID:18991353 |
RGD:12801440 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Grm8 |
glutamate metabotropic receptor 8 |
|
ISO |
protein:increased expression:astrocyte, microglia, macrophage |
RGD |
PMID:15589052 |
RGD:6771187 |
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
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G |
Grn |
granulin precursor |
|
ISO |
protein:increased expression:macrophage, microglia |
RGD |
PMID:21613335 |
RGD:5509591 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstm3 |
glutathione S-transferase mu 3 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:10680782 |
RGD:5490267 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:10680782 |
RGD:5490267 |
NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gstp1 |
glutathione S-transferase pi 1 |
disease_progression |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:10680782 |
RGD:5490267 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
no_association |
ISO |
DNA:deletion:: (human) |
RGD |
PMID:23932298 PMID:10680782 |
RGD:12792225, RGD:5490267 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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|
G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
|
ISO |
DNA:SNP:exon: rs17368528 (human) |
RGD |
PMID:19935835 |
RGD:6784513 |
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:increased expression:cytoplasm: |
RGD |
PMID:20037577 |
RGD:9590131 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hsp90ab1 |
heat shock protein 90 alpha family class B member 1 |
|
ISO |
|
RGD |
PMID:14688203 |
RGD:5686803 |
NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
protein: increased expression: cerebrospinal fluid |
RGD |
PMID:16303141 |
RGD:6480236 |
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20175758 |
|
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 |
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NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
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G |
Ifng |
interferon gamma |
susceptibility |
ISO |
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23517930 PMID:9818947 |
RGD:1358738 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
protein:increased expression:macrophage |
RGD |
PMID:10417663 |
RGD:5510017 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23517930 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12a |
interleukin 12A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24076602 |
|
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il13 |
interleukin 13 |
severity |
ISO |
protein:increased expression:serum protein:increased expression:cerebrospinal fluid |
RGD |
PMID:22031307 PMID:21677024 |
RGD:5684368, RGD:8549589 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23517930 PMID:21455110 |
RGD:8698672 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
severity |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:15210533 PMID:25458313 PMID:10025794 |
RGD:1358741 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25458313 |
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il21r |
interleukin 21 receptor |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20072140 PMID:21281812 |
RGD:6892695, RGD:6892963 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 |
RGD:2311526 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il4 |
interleukin 4 |
onset |
ISO |
DNA:repeat:intron 3:allele B1 (human) |
RGD |
PMID:9184650 |
RGD:1358745 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
|
ISO |
|
RGD |
PMID:14712310 |
RGD:4890395 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il7 |
interleukin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17660816 |
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NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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G |
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...
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NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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G |
Irf5 |
interferon regulatory factor 5 |
susceptibility |
ISO |
DNA:SNPs: :rs3807306, rs4728142 (human) |
RGD |
PMID:25392335 PMID:20861862 |
RGD:11055911, RGD:40924643 |
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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G |
Irf8 |
interferon regulatory factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19525953 |
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NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Jag1 |
jagged canonical Notch ligand 1 |
disease_progression |
ISO |
|
RGD |
PMID:20805994 PMID:16934875 |
RGD:6482233, RGD:6482240 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jarid2 |
jumonji and AT-rich interaction domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24070676 |
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NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
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 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Kif5a |
kinesin family member 5A |
susceptibility |
ISO |
DNA:snp:intron:c.1717-152C>G (rs1678542) (human) |
RGD |
PMID:20508602 |
RGD:12793067 |
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
Klhl6 |
kelch-like family member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
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G |
Klk6 |
kallikrein related-peptidase 6 |
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ISO |
|
RGD |
PMID:11802715 |
RGD:2314867 |
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
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G |
Lrch1 |
leucine rich repeats and calponin homology domain containing 1 |
|
ISS |
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 |
MouseDO |
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NCBI chr15:50,070,605...50,249,724
Ensembl chr15:50,071,947...50,249,657
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G |
Lrrc8c |
leucine rich repeat containing 8 VRAC subunit C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr14:4,223,901...4,315,590
Ensembl chr14:4,227,832...4,315,249
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G |
Mag |
myelin-associated glycoprotein |
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ISO |
|
RGD |
PMID:2419505 |
RGD:9685292 |
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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G |
Mbp |
myelin basic protein |
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ISO |
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RGD |
PMID:1691612 |
RGD:1358488 |
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23595028 |
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NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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G |
Mmp12 |
matrix metallopeptidase 12 |
susceptibility |
ISO |
DNA:SNP:promoter:-82A>G (human) |
RGD |
PMID:19628284 |
RGD:13204795 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mog |
myelin oligodendrocyte glycoprotein |
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ISO |
|
RGD |
PMID:17142321 |
RGD:9685374 |
NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
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G |
Mphosph9 |
M-phase phosphoprotein 9 |
susceptibility |
ISO |
DNA:snp:intron:122222678G>T rs1790100 (human) |
RGD |
PMID:19879194 |
RGD:2316985 |
NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
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:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
DNA:point mutation: :m.8406C>T (human) |
RGD |
PMID:17619138 |
RGD:5490263 |
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
DNA:amplification:cds:cerebral gray matter (human) |
RGD |
PMID:18566918 |
RGD:5490252 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
DNA:SNP::m.4917A>G (human) |
RGD |
PMID:18708297 |
RGD:5490259 |
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Nabp1 |
nucleic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 9:50,098,552...50,133,982
Ensembl chr 9:50,126,726...50,134,107
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
|
RGD |
PMID:18682780 |
RGD:6482255 |
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
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 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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G |
Nedd9 |
neural precursor cell expressed, developmentally down-regulated 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr17:23,289,793...23,468,026
Ensembl chr17:23,282,326...23,468,019
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G |
Nefh |
neurofilament heavy chain |
severity |
ISO |
|
RGD |
PMID:16764346 |
RGD:27226808 |
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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G |
Nefl |
neurofilament light chain |
disease_progression |
ISO |
protein:increased expresssion:serum (human) protein:increased expression:serum (human) |
RGD |
PMID:31383792 PMID:33317883 |
RGD:127284875, RGD:127285024 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:increased expression:reactive astrocytes, microglia/macrophages (human) |
RGD |
PMID:11829348 |
RGD:5508481 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25458313 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Notch4 |
notch receptor 4 |
|
ISO |
DNA: snps: cds: rs422951 |
RGD |
PMID:21654846 |
RGD:6480692 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple sclerosis |
ClinVar |
PMID:27253448 |
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NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
P2rx7 |
purinergic receptor P2X 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17728465 |
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NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
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G |
Pdcd1 |
programmed cell death 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:12402038 PMID:15912506 |
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NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Phactr2 |
phosphatase and actin regulator 2 |
|
ISO |
DNA: snp: : rs1015340 |
RGD |
PMID:20546594 |
RGD:6483093 |
NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22246459 |
RGD:6482783 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Pnmt |
phenylethanolamine-N-methyltransferase |
|
ISO |
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) |
RGD |
PMID:11958827 |
RGD:1358561 |
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
DNA:missense mutations:cds: |
RGD |
PMID:20837861 |
RGD:8694283 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2843795 PMID:9664777 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Prf1 |
perforin 1 |
|
ISO ISS |
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 chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
protein:increased expression:white matter,astrocyte: |
RGD |
PMID:19716418 |
RGD:10412736 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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G |
Prnp |
prion protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
|
ISO |
|
RGD |
PMID:20174631 |
RGD:6483446 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
no_association |
ISO |
DNA:missense mutation: :R620W (rs2476601) (human) |
RGD |
PMID:15934099 |
RGD:6484550 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
|
ISO |
DNA:snp:exon:c.77C>G (human) |
RGD |
PMID:11101853 |
RGD:1358566 |
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25853421 |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Rgma |
repulsive guidance molecule BMP co-receptor a |
|
ISO |
DNA:SNPs:intron: (rs997941, rs34925346) (human) |
RGD |
PMID:20072140 |
RGD:6892695 |
NCBI chr 1:127,128,934...127,172,918
Ensembl chr 1:127,128,934...127,172,918
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G |
Rhoa |
ras homolog family member A |
|
ISO |
protein:increased expression:microglial cell, brain |
RGD |
PMID:17983427 |
RGD:2298887 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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G |
Rnf217 |
ring finger protein 217 |
|
ISO |
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to |
ClinVar |
|
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NCBI chr 1:26,016,668...26,108,736
Ensembl chr 1:26,015,728...26,108,736
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21741664 |
RGD:5147555 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Da |
RT1 class II, locus Da |
|
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 chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility onset |
ISO |
DNA:polymorphism: :HLA-DRB*1501 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphism: :HLA-DRB1*0801 (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human) |
OMIM CTD RGD |
PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 PMID:21440682 PMID:21664963 More...
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RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Sele |
selectin E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20175758 |
|
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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|
G |
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 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:18991353 |
RGD:12801440 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Slc11a1 |
solute carrier family 11 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 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum |
RGD |
PMID:11721059 PMID:15885319 |
RGD:1581329, RGD:1581472 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Sys1 |
Sys1 golgi trafficking protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 3:153,190,970...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA:increased expression:cerebrospinal fluid, mononuclear cell |
RGD |
PMID:18644848 |
RGD:2312575 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
disease_progression no_association |
ISO ISS |
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 DNA:SNP:promoter:-308G>A (human) |
MouseDO RGD |
PMID:8964914 PMID:9270614 PMID:8887999 |
RGD:7401237, RGD:12904657, RGD:12904068 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfaip3 |
TNF alpha induced protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24076602 |
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NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
susceptibility |
ISO |
DNA:SNP:intron: (rs1800693) (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 PMID:28492532 PMID:22801493 More...
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RGD:8661741 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfsf14 |
TNF superfamily member 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24076602 |
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NCBI chr 9:2,069,075...2,073,128
Ensembl chr 9:2,069,104...2,073,216
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G |
Tnfsf9 |
TNF superfamily member 9 |
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ISO |
protein:increased expression:plasma, monocyte (human) |
RGD |
PMID:16970683 |
RGD:2317352 |
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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G |
Traf1 |
TNF receptor-associated factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 3:18,222,024...18,242,163
Ensembl chr 3:18,222,054...18,241,807
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G |
Tyk2 |
tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19525955 |
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NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20175758 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vdr |
vitamin D 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...
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RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Xbp1 |
X-box binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30661753 |
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NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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G |
Zfp267 |
zinc finger protein 267 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31068361 |
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NCBI chr 2:119,017,244...119,035,885
Ensembl chr 2:119,017,285...119,031,900
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G |
Rab11b |
RAB11B, member RAS oncogene family |
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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 |
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NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593
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G |
Nacc1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination |
OMIM ClinVar |
PMID:25741868 PMID:28132692 PMID:28492532 |
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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G |
Mthfs |
methenyltetrahydrofolate synthetase |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
OMIM ClinVar |
PMID:25741868 PMID:30031689 |
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NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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