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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Leukoencephalopathies
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Accession:DOID:9002704 term browser browse the term
Definition:Any of various diseases affecting the white matter of the central nervous system.
Synonyms:exact_synonym: CACH Syndromes;   CACH VWM Syndrome;   CACH VWM Syndromes;   CACH syndrome;   Childhood Ataxia with Diffuse Central Nervous System Hypomyelination;   Hypomyelination of the central nervous system;   Leukoencephalopathy;   Myelinosis Centralis Diffusa;   Myelinosis Centralis Diffusas;   White Matter Disease;   white matter diseases
 primary_id: MESH:D056784
 alt_id: OMIA:000526;   RDO:0001248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Leukoencephalopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:28492532 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24322053 RGD:10045369 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment IDA RGD PMID:24322053 RGD:10045369 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197934 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11148247 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr11:84,080,273...84,090,259
Ensembl chr11:84,080,273...84,090,259
JBrowse link
G Fnip2 folliculin interacting protein 2 ISO Hypomyelination of the central nervous system OMIA PMID:676669 PMID:731520 PMID:3577694 PMID:20973788 PMID:24272703 NCBI chr 2:178,223,561...178,334,925
Ensembl chr 2:178,225,915...178,334,900
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scp2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11868353 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 PMID:26307567 PMID:27120463 PMID:32316234 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G 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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G 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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein IEP protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
JBrowse link
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
ClinVar
OMIM
PMID:23265383 PMID:25741868 PMID:30635937 NCBI chr 3:162,084,336...162,147,398
Ensembl chr 3:162,084,315...162,147,393
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by OMIM:221820
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar
OMIM
PMID:2470618 PMID:8614507 PMID:16523341 PMID:19153373 PMID:22197934 PMID:22503135 PMID:23408870 PMID:23411710 PMID:23649896 PMID:23816250 PMID:24034409 PMID:24088041 PMID:24094860 PMID:24198292 PMID:24336230 PMID:24532199 PMID:25012610 PMID:25311247 PMID:25563800 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29389947 PMID:32055602 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
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:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2392416 PMID:2725645 PMID:8884268 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 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: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:20434700 PMID:20438629 PMID:20513108 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:22470557 PMID:22494076 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: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:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 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:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 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: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: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:30373890 PMID:30404819 PMID:30423451 PMID:30609409 PMID:30637288 PMID:30831263 PMID:30843307 PMID:30951992 PMID:31147703 PMID:31571979 PMID:31613174 PMID:31655921 PMID:31658717 PMID:31669236 PMID:32019516 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32502631, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 PMID:25429852 PMID:28492532 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722
OMIM
ClinVar
PMID:15773042 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:24840674 PMID:25623805 PMID:25741868 PMID:26467025 PMID:27890607 PMID:28492532 PMID:29980472 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy 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: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:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17135568 PMID:17323840 PMID:17390743 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:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 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:24886907 PMID:24929957 PMID:24936512 PMID:25033846 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25959358 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26671140 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28166811 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30199759 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30402942 PMID:30656190 PMID:30883460 PMID:30954774 PMID:30956055 PMID:31028544 PMID:31182772 PMID:31792094 PMID:31799216 PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 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: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
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:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar
OMIM
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Plp1 proteolipid protein 1 ISO human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by OMIM:607595
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: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
PMID:6428250 PMID:7257746 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16598045 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 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:26467025 PMID:26633545 PMID:28017902 PMID:28492532 PMID:32042920 PMID:32488064 PMID:32732225 PMID:32818659 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12
ClinVar Annotator: match by OMIM:614924
OMIM
ClinVar
PMID:22492562 PMID:23008233 PMID:25741868 PMID:26780086 PMID:26893310 PMID:28492532 PMID:28748214 PMID:28748215 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 PMID:2302219 PMID:2320574 PMID:2514102 PMID:8370580 PMID:8554069 PMID:10196694 PMID:10682309 PMID:11309366 PMID:16199547 PMID:17561962 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Cystic Leukoencephalopathy without Megalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Leukoencephalopathy, cystic, without megalencephaly
ClinVar Annotator: match by OMIM:612951
OMIM
ClinVar
PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740
JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase 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 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949
OMIM
ClinVar
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy ClinVar PMID:25741868 NCBI chr 2:187,424,319...187,426,410
Ensembl chr 2:187,424,327...187,426,375
JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase 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 NCBI chr 2:187,424,319...187,426,410
Ensembl chr 2:187,424,327...187,426,375
JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
OMIM
ClinVar
PMID:25741868 PMID:30576410 PMID:32462209 NCBI chr16:83,326,228...83,342,711
Ensembl chr16:83,326,301...83,342,667
JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO OMIM NCBI chr 8:22,086,534...22,091,450
Ensembl chr 8:22,086,534...22,091,450
JBrowse link
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment IDA RGD PMID:1710603 RGD:10046021 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:15878627 RGD:1559178 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 1:40,816,130...40,906,582
Ensembl chr 1:40,816,107...40,906,581
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr 7:138,704,124...138,707,221
Ensembl chr 7:138,704,126...138,707,221
JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:28578430 RGD:13703134 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 disease_progression
severity
ISO
IEP
RGD PMID:21056916, PMID:23707078, PMID:21157915, PMID:19660138 RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:23212569 RGD:10059360 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 IEP protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C6 complement C6 severity IAGP RGD PMID:11970970 RGD:625607 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B IEP RGD PMID:11353727 RGD:1580151 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Calca calcitonin-related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 IEP protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cav3 caveolin 3 onset IEP Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IEP
IMP
RGD PMID:14655765, PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:16061730 RGD:2307203 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd4 Cd4 molecule treatment IEP
IMP
protein:decreased expression:T lymphocyte: RGD PMID:9138014, PMID:3097071 RGD:10058963, RGD:10058968 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:9379015 RGD:6902906 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator IAGP RGD PMID:15821736 RGD:1358146 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IDA RGD PMID:21107918, PMID:7541143, PMID:10650887 RGD:6483335, RGD:6483353, RGD:6483351 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Comt catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cpb2 carboxypeptidase B2 IEP RGD PMID:22768796 RGD:7243111 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO
IEP
protein:increased expression:spinal cord RGD PMID:21679768, PMID:20162860 RGD:5686852, RGD:5686863 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsc cathepsin C IEP RGD PMID:843913 RGD:1599653 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:16053521 RGD:4891973 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
IMP
RGD PMID:16053521, PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IMP RGD PMID:21038468 RGD:5135506 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Dab2 DAB adaptor protein 2 disease_progression IEP RGD PMID:21890121 RGD:7243155 NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression IEP RGD PMID:19524108 RGD:9685491 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21565615, PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:12576552 RGD:5508383 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP mRNA:increased expression:spinal cord RGD PMID:8929896, PMID:9814819 RGD:8655647, RGD:9831448 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Ghrh growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment IDA RGD PMID:19620309 RGD:12905041 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
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 chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
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 chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IMP
RGD PMID:17085013, PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Ifng interferon gamma disease_progression
treatment
ISO RGD PMID:15661899, PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23872438 RGD:7364993 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha IEP RGD PMID:12620647 RGD:2316323 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Il12a interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il12b interleukin 12B IEP mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il13 interleukin 13 severity ISO RGD PMID:18250480, PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il16 interleukin 16 IMP RGD PMID:17641011 RGD:5024940 NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
JBrowse link
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 IMP
IEP
mRNA:increased expression:spinal cord RGD PMID:9834127, PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 IEP mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il21 interleukin 21 IDA RGD PMID:18997868 RGD:5147399 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il21r interleukin 21 receptor no_association
disease_progression
ISO RGD PMID:18546146, PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il22 interleukin 22 IEP RGD PMID:19269041 RGD:2311529 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Il27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IEP RGD PMID:19269041 RGD:2311529 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
RGD PMID:18239607, PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769, PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
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 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Jak3 Janus kinase 3 treatment IDA RGD PMID:25012120 RGD:11533939 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Lta lymphotoxin alpha IEP mRNA:increased expression:spinal cord
mRNA:increased expression:brain
RGD PMID:7593556, PMID:9184655 RGD:1625038, RGD:4143220 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:15494405 RGD:1358431 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbp myelin basic protein ISO human sequence peptide in a rat model; associated with Herpesviridae infections
CTD Direct Evidence: marker/mechanism
CTD PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732, PMID:16285900, PMID:12811845 RGD:7349334, RGD:30296670 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mdk midkine IEP RGD PMID:9814819 RGD:9831448 NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19922364 RGD:2325703 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9549496 RGD:8547909 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mog myelin oligodendrocyte glycoprotein IDA
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD 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 RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngf nerve growth factor IEP protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
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 chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr11:31,428,377...31,430,519
Ensembl chr11:31,428,358...31,430,517
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO
IEP
RGD PMID:24941845, PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr11:31,389,514...31,392,890
Ensembl chr11:31,389,514...31,392,890
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Plp1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:21068375, PMID:24941845 RGD:40902822 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 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 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
JBrowse link
G Qk quaking IEP RGD PMID:22740327 RGD:10045997 NCBI chr 1:50,983,647...51,050,692
Ensembl chr 1:50,828,134...51,052,340
JBrowse link
G Rangrf RAN guanine nucleotide release factor IDA RGD PMID:8557821 RGD:6771380 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G Rhoa ras homolog family member A severity IEP protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G RT1-Ba RT1 class II, locus Ba IMP
IDA
RGD PMID:18050272, PMID:16723470, PMID:9834080 RGD:5147622, RGD:5147639, RGD:5147666 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb IMP
IDA
ISO
RGD PMID:16723470, PMID:9834080, PMID:16194572 RGD:5147639, RGD:5147666, RGD:5147647 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:8676084 RGD:5490166 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:16194572 RGD:5147647 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Shh sonic hedgehog signaling molecule IEP
ISO
RGD PMID:15892298, PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IDA RGD PMID:22436018 RGD:9999395 NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
JBrowse link
G Sncb synuclein, beta IDA RGD PMID:12496452 RGD:730073 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr12:47,039,714...47,046,022
Ensembl chr12:47,039,716...47,046,022
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22066025, PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:11240014 RGD:7207888 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEP mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 IEP protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Tlr2 toll-like receptor 2 IEP protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 IEP protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:11421579 RGD:12904661 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IDA RGD PMID:12196270 RGD:1580348 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor treatment ISO RGD PMID:21318047, PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A 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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
Hereditary Central Nervous System Demyelinating Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-cyb mitochondrially encoded cytochrome b ISO Leucodystrophy OMIA PMID:11596738 PMID:16026996 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 OMIM
ClinVar
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 OMIM
ClinVar
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:30311386 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 OMIM
ClinVar
PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 13
ClinVar
OMIM
PMID:25741868 PMID:26545878 NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14
ClinVar
OMIM
PMID:25741868 PMID:28931644 PMID:29868776 PMID:32860008 NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412
JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29576217 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16
ClinVar
OMIM
PMID:25741868 PMID:29186371 PMID:29444210 NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169
JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17
ClinVar
OMIM
PMID:25741868 PMID:29215095 NCBI chr12:12,738,784...12,748,345
Ensembl chr12:12,738,812...12,748,345
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:100,665,265...100,672,731
Ensembl chr13:100,666,075...100,672,731
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM
ClinVar
PMID:25741868 PMID:31587869 NCBI chr13:99,219,585...99,253,176
Ensembl chr13:99,220,510...99,253,316
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608804
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080, PMID:15192806 RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 20 OMIM
ClinVar
PMID:32128616 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
Hypomyelinating Leukodystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 21 OMIM
ClinVar
PMID:30584594 NCBI chr 3:177,374,812...177,379,009
Ensembl chr 3:177,374,812...177,379,008
JBrowse link
Hypomyelinating Leukodystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn11 claudin 11 ISO OMIM NCBI chr 2:115,823,541...115,836,846
Ensembl chr 2:115,823,538...115,836,846
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by OMIM:260600
OMIM
ClinVar
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 NCBI chr 2:237,727,782...237,751,327
Ensembl chr 2:237,727,764...237,751,378
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18571143 PMID:25741868 PMID:27405012 PMID:28492532, PMID:18571143 RGD:12910473 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126, member A ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532
OMIM
ClinVar
PMID:16951682 PMID:17928815 PMID:20301737 PMID:21911699 PMID:25741868 PMID:28492532 NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
ClinVar
OMIM
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:28492532 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 PMID:22036171 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27521716 PMID:27535217 PMID:28459997 PMID:28492532 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868 PMID:27029625 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr4 carbonyl reductase 4 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr16:31,944,328...31,972,553
Ensembl chr16:31,956,753...31,972,507
JBrowse link
G Palld palladin, cytoskeletal associated protein ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr16:31,865,712...31,948,168 JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by OMIM:614381
OMIM
ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013 PMID:28492532 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9
ClinVar Annotator: match by OMIM:616140
OMIM
ClinVar
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30791064 NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
ClinVar Annotator: match by OMIM:615281
OMIM
ClinVar
PMID:23643384 PMID:25741868 PMID:28492532 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200
OMIM
ClinVar
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID: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:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:31395954 PMID:32576985 PMID:32860008, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar
MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Labrune Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:27571260 PMID:28177126 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:31521395 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
Leukoencephalopathy with Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with ataxia
ClinVar Annotator: match by OMIM:615651
OMIM
ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:17762171 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:23707145 PMID:25128180 PMID:25741868 PMID:28492532 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ClinVar NCBI chr13:78,886,092...78,901,025
Ensembl chr13:78,886,163...78,901,420
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) 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
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:611105
OMIM
ClinVar
PMID:17384640 PMID:19592391 PMID:21493805 PMID:21749991 PMID:21815884 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 PMID:28492532 PMID:30352563 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with dystonia and motor neuropathy
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16685654 PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha 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 NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
ClinVar
CTD
OMIM
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:24033266 PMID:25741868 PMID:26740508 PMID:27159321 PMID:28492532 PMID:29632131 PMID:29706645 PMID:30266093, PMID:11704758 RGD:734925 NCBI chr 6:109,044,830...109,051,254
Ensembl chr 6:109,043,880...109,051,253
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma 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 NCBI chr 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
OMIM
ClinVar
CTD
PMID:11835386 PMID:12707859 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:28008009 PMID:28492532 NCBI chr 6:26,546,917...26,552,474
Ensembl chr 6:26,546,924...26,552,430
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
ClinVar
CTD
OMIM
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:22699478 PMID:22952606 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25761052 PMID:26112719 PMID:26467025 PMID:26671108 PMID:28306143 PMID:28492532 PMID:28953922 PMID:31418856, PMID:11704758 RGD:734925 NCBI chr11:84,080,273...84,090,259
Ensembl chr11:84,080,273...84,090,259
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
JBrowse link
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: LEMSPAD SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase 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
ClinVar
OMIM
PMID:21427441 PMID:25356970 PMID:25741868 PMID:28887846 PMID:29615062 PMID:30252186 PMID:31116475 PMID:33260297 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12939431 PMID:14572144 PMID:15037685 PMID:15992519 PMID:16199547 PMID:16470554 PMID:21160490 PMID:21555057 PMID:22006981 PMID:22416245 PMID:24824219 PMID:25497041 PMID:25741868 PMID:27264811 PMID:27322623 PMID:28492532 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISS
ISO
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868 PMID:29389947 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID: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:23793458 PMID:23851226 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25741868 PMID:25767710 PMID:25796299 PMID:26349194 PMID:26392452 PMID:27081509 PMID:27322623 PMID:28492532 PMID:28588848 PMID:32056211 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
ClinVar Annotator: match by OMIM:613925
OMIM
ClinVar
PMID:21419380 PMID:25741868 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar Annotator: match by OMIM:613926
OMIM
ClinVar
PMID:20517947 PMID:21419380 PMID:25741868 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
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: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile
ClinVar
OMIM
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID: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: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: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:29457794 PMID:29544907 PMID:29915382 PMID:29966168 PMID:30057904 PMID:30293248 PMID:30674982 PMID:30828547 PMID:31186049 PMID:31694723 PMID:31967741 PMID:32632536 PMID:32860008 PMID:33335837, PMID:15375602, PMID:15026521 RGD:1358435, RGD:1358434 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Multi-Infarct Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21279683 RGD:10449132 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:11498265 RGD:1549857 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:91,919,834...91,963,080
Ensembl chr13:91,954,138...91,962,588
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896, PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 3:164,039,731...164,055,561
Ensembl chr 3:164,039,731...164,095,878
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bdnf brain-derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl12 chemokine (C-C motif) 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 chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
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 chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
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 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 RGD:1358460, RGD:8551829 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr20:48,335,540...48,340,847
Ensembl chr20:48,335,540...48,340,846
JBrowse link
G Cd28 Cd28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
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 PMID:19525955, PMID:20634952, PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd6 Cd6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:226,848,399...226,887,259
Ensembl chr 1:226,848,403...226,887,156
JBrowse link
G Cd86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:57,108,757...57,183,855
Ensembl chr11:57,108,956...57,183,270
JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:34,001,506...34,088,418
Ensembl chr 7:34,001,506...34,079,616
JBrowse link
G Cfh complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 2:115,823,541...115,836,846
Ensembl chr 2:115,823,538...115,836,846
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18946483 PMID:19525955, PMID:21653641 RGD:5491175 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Cmahp cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:42,567,472...42,640,221
Ensembl chr17:42,583,945...42,640,221
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 6:45,683,242...45,694,824
Ensembl chr 6:45,683,234...45,694,822
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295, PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17086443, PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:17086443, PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:100,072,421...100,078,487
Ensembl chr 9:100,076,958...100,078,788
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31068361, PMID:11438180 RGD:1358622 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
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:152,414,332...152,642,607
Ensembl chr  X:152,414,615...152,642,531
JBrowse link
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 PMID:25590278, PMID:12137326, PMID:18807170, PMID:19324981, PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 no_association ISO DNA:deletion:: (human) RGD PMID:23932298, PMID:10680782 RGD:12792225, RGD:5490267 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23517930, PMID:9818947 RGD:1358738 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23517930, PMID:21455110 RGD:8698672 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15210533 PMID:25458313, PMID:10025794 RGD:1358741 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140, PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
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 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602, PMID:19125193 RGD:2311526 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
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:28492532 PMID:32576985
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335, PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:20805994, PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
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 PMID:18997785, PMID:20502484, PMID:18997785 RGD:12738463, RGD:12738462 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Klhl6 kelch-like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:84,745,958...84,785,315
Ensembl chr11:84,745,904...84,785,893
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Lrch1 leucine rich repeats and calponin homology domain containing 1 ISS OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr15:56,778,738...56,970,439
Ensembl chr15:56,785,162...56,970,365
JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr14:5,283,655...5,378,738
Ensembl chr14:5,283,647...5,378,726
JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:55,049,893...55,057,784
Ensembl chr 9:55,050,203...55,057,658
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
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 PMID:16738668, PMID:16738668, PMID:17376543 RGD:6767558, RGD:6767565 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:22,984,792...23,179,701
Ensembl chr17:22,984,844...23,179,701
JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
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 chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
JBrowse link
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 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
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 PMID:19680139, PMID:20921521, PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 1:134,699,053...134,742,512
Ensembl chr 1:134,699,299...134,742,514
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:75,058,758...75,098,331
Ensembl chr 7:75,058,758...75,098,331
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
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
PMID:21741664, PMID:21908482, PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
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 PMID:17660530, PMID:19834503, PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
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
PMID:25911099, PMID:21741664, PMID:20207784, PMID:20580995, PMID:21440682, PMID:21664963 RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
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 2:187,218,851...187,225,000
Ensembl chr 2:187,218,851...187,225,002
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
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 PMID:16597321, PMID:18973068, PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:11721059, PMID:15885319 RGD:1581329, RGD:1581472 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:160,908,779...160,913,281
Ensembl chr 3:160,908,769...160,912,507
JBrowse link
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 chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
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 PMID:8964914, PMID:9270614, PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
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
OMIM
ClinVar
CTD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868, PMID:22801493 RGD:8661741 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:9,761,363...9,765,461
Ensembl chr 9:9,761,536...9,765,186
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:14,003,340...14,022,955
Ensembl chr 3:14,003,340...14,022,672
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
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 PMID:25853421, PMID:15118671, PMID:27049563, PMID:25685788, PMID:26540116, PMID:21664963 RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:122,855,036...122,873,696
Ensembl chr 2:122,865,100...122,869,616
JBrowse link
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab11b RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29106825 NCBI chr 7:18,598,991...18,612,132
Ensembl chr 7:18,598,880...18,612,147
JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar
PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar
PMID:25741868 PMID:30031689 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES OMIM
ClinVar
PMID:32707086 NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD PMID:18509235 PMID:24070676, PMID:16087714, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Cd59 CD59 molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482, PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712, PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
Opticospinal Multiple Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:17468440 RGD:8698645 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,556,838...106,558,366
Ensembl chr  X:106,556,838...106,558,366
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,823,442...106,825,016
Ensembl chr  X:106,823,491...106,825,014
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
DNA:missense mutation:cds:p.A246T (human)
ClinVar
CTD
OMIM
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,746,456...106,749,618
Ensembl chr  X:106,746,701...106,747,303
JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,774,954...106,777,072
Ensembl chr  X:106,774,980...106,777,072
JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,713,319...106,715,391
Ensembl chr  X:106,713,320...106,715,391
JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:106,791,333...106,794,667
Ensembl chr  X:106,791,333...106,794,657
JBrowse link
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT ClinVar
OMIM
PMID:906807 PMID:15221337 PMID:25741868 PMID:27666438 PMID:28369186 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
Posterior Leukoencephalopathy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29483653 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Grn granulin precursor susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)
RGD PMID:21613335, PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis, UMLS MESH term: Multiple Sclerosis, Chronic Progressive ClinVar NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:16401742 PMID:21880868 PMID:25741868 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
Progressive Leukoencephalopathy, with Ovarian Failure term browser