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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:autoimmune disease of central nervous system
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Accession:DOID:0060004 term browser browse the term
Definition:An autoimmune hypersensitivity disease located_in the central nervous system. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



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acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism, haplotype: :
RGD PMID:19722042 PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism, haplotype: :
RGD PMID:19722042 PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Nefl neurofilament, light polypeptide disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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 ISO protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A disease_progression IMP RGD PMID:26320658 RGD:11534569 NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633
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 chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Polg polymerase (DNA directed), gamma susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796
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 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Nefh neurofilament, heavy polypeptide IEP protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chr  X:135,720,897...135,739,331
Ensembl chr  X:135,723,420...135,740,482
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 IMP RGD PMID:17983428 RGD:13208507 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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 ISO RGD PMID:1710603 RGD:10046021 NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
JBrowse link
G Adam17 a disintegrin and metallopeptidase domain 17 ISO RGD PMID:15878627 RGD:1559178 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
JBrowse link
G Adam8 a disintegrin and metallopeptidase domain 8 IMP RGD PMID:9670863 RGD:2325244 NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr17:35,389,962...35,395,050
Ensembl chr17:35,389,967...35,395,044
JBrowse link
G Akap12 A kinase (PRKA) anchor protein (gravin) 12 ISO mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470
JBrowse link
G Alox15 arachidonate 15-lipoxygenase IMP RGD PMID:15328042 RGD:5509618 NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity IMP RGD PMID:28119027 RGD:14392778 NCBI chr15:97,141,955...97,145,168
Ensembl chr15:97,142,006...97,145,168
JBrowse link
G Anxa1 annexin A1 ISO protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:28578430 RGD:13703134 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Aqp4 aquaporin 4 disease_progression
severity
IEP
IDA
ISO
IMP
RGD PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138 RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G B2m beta-2 microglobulin IMP RGD PMID:15837577 RGD:6482690 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 IEP mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:23212569 RGD:10059360 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G C3 complement component 3 ISO protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G C6 complement component 6 severity ISO RGD PMID:11970970 RGD:625607 NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO RGD PMID:11353727 RGD:1580151 NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha no_association IMP RGD PMID:19563774 RGD:5684360 NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
JBrowse link
G Casp3 caspase 3 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
JBrowse link
G Casp8 caspase 8 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 1:58,834,398...58,886,662
Ensembl chr 1:58,834,533...58,886,662
JBrowse link
G Casp9 caspase 9 ISO protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
JBrowse link
G Cav3 caveolin 3 onset ISO Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833
JBrowse link
G Cblb Casitas B-lineage lymphoma b ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
JBrowse link
G Ccl1 chemokine (C-C motif) ligand 1 ISO mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
JBrowse link
G Ccl11 chemokine (C-C motif) ligand 11 ISO mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:spinal cord
mRNA:decreased expression:lymph node
mRNA:increased expression:optic chiasma (rat)
RGD PMID:17666800 PMID:19865101 PMID:11241588 RGD:2307114, RGD:4145472, RGD:8548888 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 ISO mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 IEP
ISO
protein:increased expression:brain (mouse)
mRNA:increased expression:spinal cord
RGD PMID:15833367 PMID:17666800 RGD:4890027, RGD:2307114 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 ISO RGD PMID:14655765 PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 ISO mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Ccr3 chemokine (C-C motif) receptor 3 IDA RGD PMID:15034073 RGD:6893394 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 ISO mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd28 CD28 antigen ISO RGD PMID:16061730 RGD:2307203 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
G Cd4 CD4 antigen treatment ISO protein:decreased expression:T lymphocyte: RGD PMID:9138014 PMID:3097071 RGD:10058963, RGD:10058968 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:9379015 RGD:6902906 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
JBrowse link
G Cd86 CD86 antigen resistance
disease_progression
IMP
ISO
protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557 PMID:20451260 RGD:4892227, RGD:4892207 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Ciita class II transactivator ISO RGD PMID:15821736 RGD:1358146 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21107918 PMID:7541143 PMID:10650887 RGD:6483335, RGD:6483353, RGD:6483351 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Comt catechol-O-methyltransferase treatment IMP RGD PMID:25242632 RGD:13450949 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
JBrowse link
G Cpb2 carboxypeptidase B2 (plasma) ISO RGD PMID:22768796 RGD:7243111 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 IEP
ISO
protein:increased expression:spinal cord RGD PMID:21679768 PMID:20162860 RGD:5686852, RGD:5686863 NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Ctsc cathepsin C ISO RGD PMID:843913 RGD:1599653 NCBI chr 7:87,927,220...87,965,069
Ensembl chr 7:87,927,293...87,960,096
JBrowse link
G Ctss cathepsin S IMP RGD PMID:21439785 RGD:5686915 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 ISO RGD PMID:16053521 RGD:4891973 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO RGD PMID:16053521 PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,730,682...119,898,945
JBrowse link
G Cxcr2 chemokine (C-X-C motif) receptor 2 IMP RGD PMID:19616545 RGD:7257694 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,148...74,200,405
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO RGD PMID:21038468 RGD:5135506 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875
JBrowse link
G Dab2 disabled 2, mitogen-responsive phosphoprotein disease_progression ISO RGD PMID:21890121 RGD:7243155 NCBI chr15:6,329,269...6,470,196
Ensembl chr15:6,329,269...6,470,193
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 IDA RGD PMID:24676147 RGD:150520045 NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262
JBrowse link
G Dll1 delta like canonical Notch ligand 1 IMP RGD PMID:17947672 RGD:6482235 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
JBrowse link
G Dusp10 dual specificity phosphatase 10 IMP RGD PMID:15306813 RGD:7775013 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression ISO RGD PMID:19524108 RGD:9685491 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G Ern1 endoplasmic reticulum (ER) to nucleus signalling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
JBrowse link
G Esr2 estrogen receptor 2 (beta) IMP
IDA
RGD PMID:21565615 PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III IMP RGD PMID:12576552 RGD:5508383 NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:spinal cord RGD PMID:8929896 PMID:9814819 RGD:8655647, RGD:9831448 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
JBrowse link
G Ghrh growth hormone releasing hormone resistance IMP RGD PMID:21846799 RGD:5687168 NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426
JBrowse link
G Ghrl ghrelin treatment ISO RGD PMID:19620309 RGD:12905041 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
JBrowse link
G Gjc2 gap junction protein, gamma 2 IEP protein:decreased expression:white matter of spinal cord, gap junction (mouse) RGD PMID:22461072 RGD:13208593 NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
JBrowse link
G Gli1 GLI-Kruppel family member GLI1 IEP RGD PMID:18991353 RGD:12801440 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO RGD PMID:18050272 PMID:16723470 PMID:9834080 RGD:5147622, RGD:5147639, RGD:5147666 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:16723470 PMID:9834080 PMID:16194572 RGD:5147639, RGD:5147666, RGD:5147647 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Ea histocompatibility 2, class II antigen E alpha ISO RGD PMID:8676084 RGD:5490166 NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,561,907...34,563,618
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO RGD PMID:16194572 RGD:5147647 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 IMP
ISO
mRNA:increased expression:spinal cord: RGD PMID:11823861 PMID:15913792 RGD:9686086, RGD:9686113 NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase IMP
ISO
RGD PMID:17085013 PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
JBrowse link
G Ifng interferon gamma disease_progression
treatment
IMP RGD PMID:15661899 PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23872438 RGD:7364993 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO RGD PMID:12620647 RGD:2316323 NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447
JBrowse link
G Il12a interleukin 12a IMP RGD PMID:12471147 RGD:724447 NCBI chr 3:68,597,977...68,605,883
Ensembl chr 3:68,597,977...68,605,880
JBrowse link
G Il12b interleukin 12b ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
JBrowse link
G Il13 interleukin 13 severity IMP
ISO
RGD PMID:18250480 PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
JBrowse link
G Il16 interleukin 16 ISO RGD PMID:17641011 RGD:5024940 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
JBrowse link
G Il17a interleukin 17A treatment ISO
IDA
IMP
mRNA, protein:increased expression:lymph node RGD PMID:19233473 PMID:16200068 PMID:16785554 PMID:20003332 RGD:4831840, RGD:9212317, RGD:4889113, RGD:4888522 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 ISO mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il21 interleukin 21 ISO RGD PMID:18997868 RGD:5147399 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
JBrowse link
G Il21r interleukin 21 receptor no_association
disease_progression
IMP RGD PMID:18546146 PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19269041 RGD:2311529 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
JBrowse link
G Il27 interleukin 27 IEP protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO RGD PMID:19269041 RGD:2311529 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
JBrowse link
G Il4 interleukin 4 treatment IMP
ISO
RGD PMID:18239607 PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Il6 interleukin 6 ISO
IMP
protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Itga4 integrin alpha 4 treatment
susceptibility
ISO rat bone marrow cells in a mouse model RGD PMID:12626659 PMID:18722022 RGD:9698418, RGD:9698436 NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
JBrowse link
G Jag1 jagged 1 IMP RGD PMID:17947672 RGD:6482235 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Jak2 Janus kinase 2 IDA RGD PMID:22066025 RGD:6483041 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
JBrowse link
G Jak3 Janus kinase 3 treatment ISO RGD PMID:25012120 RGD:11533939 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
JBrowse link
G Kdr kinase insert domain protein receptor IMP RGD PMID:19233483 RGD:5684404 NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:25972476 RGD:12910744 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IEP protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
JBrowse link
G Lta lymphotoxin A ISO mRNA:increased expression:spinal cord
mRNA:increased expression:brain
RGD PMID:7593556 PMID:9184655 RGD:1625038, RGD:4143220 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Mapt microtubule-associated protein tau treatment ISO RGD PMID:15494405 RGD:1358431 NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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
RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 More... RGD:7349334, RGD:30296670 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
JBrowse link
G Mdk midkine ISO RGD PMID:9814819 RGD:9831448 NCBI chr 2:91,760,150...91,762,642
Ensembl chr 2:91,760,150...91,762,642
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19922364 RGD:2325703 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:9549496 RGD:8547909 NCBI chr 9:7,692,091...7,699,586
Ensembl chr 9:7,692,091...7,699,586
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IEP
protein:increased expression:multiple tissues RGD PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566 RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Mobp myelin-associated oligodendrocytic basic protein IDA RGD PMID:10623862 RGD:27226694 NCBI chr 9:119,978,740...120,010,554
Ensembl chr 9:119,978,773...120,010,550
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 More... RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
JBrowse link
G Mt2 metallothionein 2 IEP mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
JBrowse link
G Mt3 metallothionein 3 IEP mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 9:49,413,429...49,710,909
Ensembl chr 9:49,413,436...49,710,225
JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 2:75,505,857...75,535,007
Ensembl chr 2:75,505,857...75,534,985
JBrowse link
G Ngf nerve growth factor ISO protein, mRNA:increased expression:thalamus and cortex, CNS (rat) RGD PMID:8866783 RGD:5508386 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) severity IMP
ISO
mRNA:increased expression:central nervous system (rat) RGD PMID:16519950 PMID:8866783 RGD:5508312, RGD:5508386 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
JBrowse link
G Nos2 nitric oxide synthase 2, inducible IMP RGD PMID:21857957 RGD:5509069 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 IMP RGD PMID:21266776 RGD:6480877 NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IMP RGD PMID:17322387 RGD:4892331 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment IEP RGD PMID:24941845 RGD:40902822 NCBI chr16:91,066,657...91,068,827
Ensembl chr16:91,066,660...91,068,821
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment IEP
ISO
RGD PMID:24941845 PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr16:91,016,745...91,025,567
Ensembl chr16:91,022,345...91,025,565
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility IMP RGD PMID:24648472 RGD:40818258 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IMP RGD PMID:20303183 RGD:6482686 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Plp1 proteolipid protein (myelin) 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21068375 PMID:24941845 RGD:40902822 NCBI chr  X:135,720,897...135,739,331
Ensembl chr  X:135,723,420...135,740,482
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
JBrowse link
G Prf1 perforin 1 (pore forming protein) IMP RGD PMID:20708278 RGD:6482806 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit severity IMP RGD PMID:19486896 RGD:6484540 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP
ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage,
RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP
ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell
RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 6:36,691,859...36,787,114
Ensembl chr 6:36,691,864...36,787,155
JBrowse link
G Qki quaking, KH domain containing RNA binding ISO RGD PMID:22740327 RGD:10045997 NCBI chr17:10,425,400...10,538,706
Ensembl chr17:10,421,530...10,538,783
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO RGD PMID:8557821 RGD:6771380 NCBI chr11:68,863,310...68,866,011
Ensembl chr11:68,863,310...68,866,011
JBrowse link
G Rhoa ras homolog family member A severity ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 IEP mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Shh sonic hedgehog ISO
IEP
RGD PMID:15892298 PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IDA RGD PMID:22436018 RGD:9999395 NCBI chr 2:164,195,990...164,230,861
Ensembl chr 2:164,195,990...164,231,015
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:12496452 RGD:730073 NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408
JBrowse link
G Srsf9 serine and arginine-rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr 5:115,465,236...115,471,139
Ensembl chr 5:115,465,236...115,471,139
JBrowse link
G Stat1 signal transducer and activator of transcription 1 IDA RGD PMID:22066025 RGD:6483041 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IDA
IMP
RGD PMID:22066025 PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:11240014 RGD:7207888 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:11421579 RGD:12904661 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:12196270 RGD:1580348 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor treatment IDA
IMP
RGD PMID:21318047 PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:decreased expression:Cerebrospinal Fluid:
mRNA,protein:decreased expression:spinal cord:
RGD PMID:12387457 PMID:17083617 PMID:17083617 RGD:634258, RGD:7421596, RGD:7421596 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Vip vasoactive intestinal polypeptide IMP RGD PMID:20978211 RGD:5685386 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:173,177,105...173,293,606
Ensembl chr 1:173,178,445...173,293,606
JBrowse link
G Apoa1 apolipoprotein A-I ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 PMID:15118671 RGD:1331525 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G B4galt5 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 2:167,140,364...167,191,155
Ensembl chr 2:167,140,364...167,191,103
JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Bcl2l2 BCL2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr14:55,120,804...55,136,384
Ensembl chr14:55,120,834...55,125,691
Ensembl chr14:55,120,834...55,125,691
JBrowse link
G Bdnf brain derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO RGD PMID:11353727 RGD:1580151 NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 6:17,306,287...17,341,327
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Cblb Casitas B-lineage lymphoma b ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
JBrowse link
G Ccl1 chemokine (C-C motif) ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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 chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Ccl7 chemokine (C-C motif) ligand 7 ISO mRNA,protein:increased expression:brain
DNA:polymorphism:promoter
RGD PMID:9655469 PMID:12127674 RGD:6483814, RGD:6483818 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
JBrowse link
G Ccr3 chemokine (C-C motif) receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 ISO DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human)
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
protein:increased expression:blood, cerebrospinal fluid
ClinVar
RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:1358460, RGD:8551829 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd24a CD24a antigen ISO RGD PMID:14657362 RGD:1358462 NCBI chr10:43,454,433...43,460,261
Ensembl chr10:43,454,280...43,460,261
JBrowse link
G Cd28 CD28 antigen ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
G Cd40 CD40 antigen susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD
RGD
PMID:19525955 PMID:20634952 PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO RGD PMID:21177319 RGD:6483460 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
JBrowse link
G Cd6 CD6 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr19:10,766,703...10,807,427
Ensembl chr19:10,766,705...10,807,422
JBrowse link
G Cd86 CD86 antigen susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Cd96 CD96 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr16:45,856,015...45,940,611
Ensembl chr16:45,856,020...45,940,614
JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr10:92,996,492...93,086,956
Ensembl chr10:92,996,737...93,102,933
JBrowse link
G Cfh complement component factor h no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
JBrowse link
G Ciita class II transactivator susceptibility
no_association
ISO DNA:polymorphism:exon:c.1632G>C, rs4774 (human)
DNA:polymorphism:promoter:-168A>G (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD PMID:21653641 PMID:15821736 PMID:16426246 RGD:5491175, RGD:1358146, RGD:5491189 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 3:31,204,069...31,218,475
Ensembl chr 3:31,204,069...31,218,473
JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
JBrowse link
G Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:24,511,387...24,661,272
Ensembl chr13:24,511,387...24,661,360
JBrowse link
G Cmpk2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr12:26,519,121...26,529,836
Ensembl chr12:26,519,203...26,529,836
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295 PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Cnr1 cannabinoid receptor 1 (brain) ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
JBrowse link
G Cst3 cystatin C IEP
ISO
protein:decreased expression:cerebrospinal fluid RGD PMID:17086443 PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association ISO DNA:SNPs: :rs3087243,rs11571302(human)
DNA:SNP:CDS:49A>G (human)
RGD PMID:10082437 PMID:19740340 PMID:17942509 RGD:1358538, RGD:7411672, RGD:2301975 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Ctsb cathepsin B IEP
ISO
protein:increased expression:cerebrospinal fluid RGD PMID:17086443 PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
JBrowse link
G Ctsh cathepsin H IEP RGD PMID:17086443 RGD:5686392 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
JBrowse link
G Ctsl cathepsin L IEP RGD PMID:17086443 RGD:5686392 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:92,834,711...92,836,342
Ensembl chr 1:92,834,703...92,836,157
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
JBrowse link
G Ern1 endoplasmic reticulum (ER) to nucleus signalling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)
RGD PMID:8879222 PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G Gabra3 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 3 ISO DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chr  X:71,476,282...71,700,525
Ensembl chr  X:71,476,287...71,700,454
JBrowse link
G Gc vitamin D binding protein susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)
CTD
RGD
PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
JBrowse link
G Grm8 glutamate receptor, metabotropic 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 6:27,275,120...28,135,393
Ensembl chr 6:27,275,118...28,135,177
JBrowse link
G Grn granulin ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstm3 glutathione S-transferase, mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 3:107,871,012...107,876,490
Ensembl chr 3:107,871,012...107,876,599
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 3:107,803,170...107,806,001
Ensembl chr 3:107,803,137...107,806,002
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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*06 (human)
CTD
OMIM
RGD
PMID:21741664 PMID:21908482 PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Ea histocompatibility 2, class II antigen E alpha ISO DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
CTD
RGD
PMID:17660530 PMID:19834503 PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,561,907...34,563,618
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility
onset
ISO DNA:polymorphism: :HLA-DRB*1501 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism: :HLA-DRB1*0801 (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)
OMIM
CTD
RGD
PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 PMID:21440682 More... RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 4:129,409,897...129,436,439
Ensembl chr 4:129,409,897...129,436,506
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha (cytosolic), class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr17:45,878,704...45,884,187
Ensembl chr17:45,878,701...45,884,197
JBrowse link
G Hspa8 heat shock protein 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chr 4:88,440,262...88,441,031
Ensembl chr 4:88,440,262...88,441,011
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23517930 PMID:9818947 RGD:1358738 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il12a interleukin 12a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 3:68,597,977...68,605,883
Ensembl chr 3:68,597,977...68,605,880
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 chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23517930 PMID:21455110 RGD:8698672 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:15210533 PMID:25458313 PMID:10025794 RGD:1358741 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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 6:67,399,916...67,468,839
Ensembl chr 6:67,399,916...67,468,839
JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 RGD:2311526 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO RGD PMID:14712310 RGD:4890395 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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:24759676 More... NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335 PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
JBrowse link
G Jag1 jagged 1 disease_progression ISO RGD PMID:20805994 PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Jarid2 jumonji, AT rich interactive domain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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
RGD
PMID:18997785 PMID:20502484 PMID:18997785 RGD:12738463, RGD:12738462 NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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 chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
JBrowse link
G Klhl6 kelch-like 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr16:19,765,242...19,801,832
Ensembl chr16:19,765,246...19,801,787
JBrowse link
G Klk6 kallikrein related-peptidase 6 IEP RGD PMID:11802715 RGD:2314867 NCBI chr 7:43,473,864...43,481,451
Ensembl chr 7:43,473,923...43,481,454
JBrowse link
G Lrch1 leucine-rich repeats and calponin homology (CH) domain containing 1 IEA OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr14:74,992,113...75,185,447
Ensembl chr14:74,992,115...75,185,316
JBrowse link
G Lrrc6 leucine rich repeat containing 6 (testis) ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759
JBrowse link
G Lrrc8c leucine rich repeat containing 8 family, member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 5:105,666,850...105,760,884
Ensembl chr 5:105,667,254...105,760,884
JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 9:44,045,946...44,054,024
Ensembl chr 9:44,045,766...44,054,024
JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr 5:124,389,022...124,466,035
Ensembl chr 5:124,389,022...124,466,035
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO DNA:transition:cds:m.9055A>G (human)
DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD PMID:18708297 PMID:17619138 RGD:5490259, RGD:5490263 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO DNA:SNP::m.4917A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951
JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:51,504,127...51,517,634
Ensembl chr 1:51,505,021...51,517,584
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr 1:171,062,422...171,078,956
Ensembl chr 1:171,062,422...171,078,957
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
RGD
PMID:16738668 PMID:16738668 PMID:17376543 RGD:6767558, RGD:6767565 NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408
JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated gene 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:41,463,392...41,640,836
Ensembl chr13:41,463,057...41,640,838
JBrowse link
G Nefh neurofilament, heavy polypeptide severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
JBrowse link
G Nefl neurofilament, light polypeptide disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human)
RGD PMID:31383792 PMID:33317883 RGD:127284875, RGD:127285024 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
JBrowse link
G Notch4 notch 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
JBrowse link
G P2rx7 purinergic receptor P2X, ligand-gated ion channel, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495
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 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr10:13,083,461...13,350,266
Ensembl chr10:13,083,461...13,350,156
JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
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 chr11:98,277,449...98,279,006
Ensembl chr11:98,277,276...98,279,007
JBrowse link
G Polg polymerase (DNA directed), gamma ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Prf1 perforin 1 (pore forming protein) IMP
IEA
ISO
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell
MouseDO
RGD
PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) ISO RGD PMID:20174631 RGD:6483446 NCBI chr17:34,400,961...34,406,304
Ensembl chr17:34,400,961...34,406,738
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr 1:137,990,597...138,103,491
Ensembl chr 1:137,990,599...138,103,446
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704
JBrowse link
G Rgma repulsive guidance molecule family member A ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 7:73,025,268...73,069,647
Ensembl chr 7:73,025,257...73,069,647
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
JBrowse link
G Rnf19a ring finger protein 19A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr15:36,240,080...36,283,293
Ensembl chr15:36,240,079...36,283,293
JBrowse link
G Rnf217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr10:31,377,883...31,485,721
Ensembl chr10:31,369,189...31,485,180
JBrowse link
G Sele selectin, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,803...163,885,246
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 3:87,754,062...87,763,029
Ensembl chr 3:87,754,062...87,763,029
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:18991353 RGD:12801440 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 no_association ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD
RGD
PMID:16597321 PMID:18973068 PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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 chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Sys1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility
no_association
ISO DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human)
RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279, RGD:6482281, RGD:6482280 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor disease_progression
no_association
ISO
IEA
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNP:promoter:-308G>A (human)
MouseDO
RGD
PMID:8964914 PMID:9270614 PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a susceptibility ISO DNA:SNP:intron: (rs1800693) (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 More... RGD:8661741 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
JBrowse link
G Tnfsf14 tumor necrosis factor (ligand) superfamily, member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr17:57,496,474...57,501,181
Ensembl chr17:57,496,492...57,501,177
JBrowse link
G Tnfsf9 tumor necrosis factor (ligand) superfamily, member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr17:57,412,113...57,414,757
Ensembl chr17:57,412,325...57,414,757
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:34,831,762...34,851,784
Ensembl chr 2:34,831,762...34,851,784
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD
RGD
PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 More... RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:36,205,229...36,224,490
Ensembl chr 3:36,205,166...36,224,491
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
IDA
IMP
IEP
CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD
RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:22271321 More... RGD:5148024, RGD:8696034, RGD:8696034, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Cd59b CD59b antigen severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,900,194...103,921,532
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nefh neurofilament, heavy polypeptide ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO RGD PMID:21371524 RGD:5508767 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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 chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Cd274 CD274 antigen severity IMP RGD PMID:21494618 RGD:6893669 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
JBrowse link
G Gc vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
JBrowse link
G Grn granulin susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)
RGD PMID:21613335 PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr15:103,148,370...103,155,125
Ensembl chr15:103,148,859...103,155,119
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:12926841 RGD:12801414 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473
JBrowse link
G Adamts14 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
JBrowse link
G Apoa4 apolipoprotein A-IV onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Cd80 CD80 antigen ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Grn granulin disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr15:103,148,370...103,155,125
Ensembl chr15:103,148,859...103,155,119
JBrowse link
G Hspa8 heat shock protein 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr10:128,626,779...128,636,696
Ensembl chr10:128,626,779...128,636,693
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nefh neurofilament, heavy polypeptide treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
JBrowse link
G Nefl neurofilament, light polypeptide ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)
RGD PMID:30761586 PMID:33658322 RGD:127285025, RGD:127285027 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:20,736,405...20,740,976
Ensembl chr  X:20,736,405...20,740,974
JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 chemokine (C-C motif) ligand 2 ISO RGD PMID:15742444 RGD:1581162 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Chil1 chitinase-like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO RGD PMID:9844760 RGD:11059502 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Il17a interleukin 17A severity
susceptibility
ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:20331879 PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Jag1 jagged 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 7:78,783,516...78,798,808
Ensembl chr 7:78,783,516...78,798,808
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
RGD PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Vps37a vacuolar protein sorting 37A ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      nervous system disease 12605
        autoimmune disease of the nervous system 468
          autoimmune disease of central nervous system 302
            Demyelinating Autoimmune Diseases, CNS + 295
            autoimmune epilepsy 0
            autoimmune neuropathy 0
            limbic encephalitis 0
            postinfectious encephalitis 0
            temporal arteritis 21
Path 2
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      Immune & Inflammatory Diseases 4793
        immune system disease 4186
          primary immunodeficiency disease 3544
            autoimmune disease 2038
              autoimmune disease of the nervous system 468
                autoimmune disease of central nervous system 302
                  Demyelinating Autoimmune Diseases, CNS + 295
                  autoimmune epilepsy 0
                  autoimmune neuropathy 0
                  limbic encephalitis 0
                  postinfectious encephalitis 0
                  temporal arteritis 21
paths to the root