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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:multiple sclerosis
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Accession:DOID:2377 term browser browse the term
Definition:A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)
Synonyms:exact_synonym: MS;   MS (Multiple Sclerosis);   acute fulminating multiple sclerosis;   disseminated sclerosis;   generalized multiple sclerosis;   insular sclerosis
 related_synonym: MS1;   MS2;   MS3;   MS4;   MS5;   multiple sclerosis modifier of disease progression;   multiple sclerosis, susceptibility to;   multiple sclerosis, susceptibility to, 1;   multiple sclerosis, susceptibility to, 2;   multiple sclerosis, susceptibility to, 3;   multiple sclerosis, susceptibility to, 4;   multiple sclerosis, susceptibility to, 5
 xref: EFO:0003885;   GARD:10255;   ICD10CM:G35;   ICD9CM:340;   MESH:D009103;   MIM:126200;   MIM:612594;   MIM:612595;   MIM:612596;   MIM:614810;   MIM:PS126200;   MONDO:0005301;   NCI:C3243
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 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 chr14:55,120,900...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 6:17,306,387...17,341,323
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 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl12 C-C motif chemokine ligand 12 ISO DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		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 chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		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
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/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr12:26,519,121...26,529,836
Ensembl chr12:26,519,203...26,529,836 		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 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 C-X-C motif chemokine ligand 15 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:9837822 PMID:25741868 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		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 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 cell surface death receptor susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)		 RGD PMID:8879222 PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		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 type A receptor subunit alpha 3 ISO DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chr  X:71,476,282...71,700,525
Ensembl chr  X:71,476,287...71,700,454 		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...28,135,094
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 3:107,871,019...107,876,484
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 3:107,803,240...107,806,002
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)		 OMIM
CTD
RGD		 PMID:21741664 PMID:21908482 PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		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 chr17:34,560,926...34,563,618 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility
onset		 ISO DNA:polymorphism: :HLA-DRB*1501 (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism: :HLA-DRB1*0801 (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)		 ClinVar
OMIM
CTD
RGD		 PMID:25741868 PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 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...129,436,516
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 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 More... RGD:401854232 NCBI chr 4:88,440,253...88,441,083
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...68,605,881
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 6:67,399,906...67,468,838
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:21664875 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 and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119 		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...19,801,766
Ensembl chr16:19,765,246...19,801,787 		JBrowse link
G Klk6 kallikrein related-peptidase 6 IEP RGD PMID:11802715 RGD:2314867 NCBI chr 7:43,473,967...43,481,219
Ensembl chr 7:43,473,923...43,481,454 		JBrowse link
G Lrch1 leucine-rich repeats and calponin homology (CH) domain containing 1 IAGP OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr14:74,992,113...75,185,447
Ensembl chr14:74,992,115...75,185,316 		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 9:44,045,958...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...124,466,001
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 1:171,062,426...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 Nono non-POU-domain-containing, octamer binding protein ISO mRNA:altered expression:peripheral blood mononuclear cell (human) RGD PMID:29100048 RGD:156420155 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		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 ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 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 chr17:43,879,009...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
IAGP
ISO		 OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell		 MouseDO
RGD		 PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		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 chr17:34,401,006...34,406,347
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 1:137,990,601...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 1:163,875,773...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 3:87,754,070...87,763,116
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
IAGP		 OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP:promoter:-308G>A (human)		 MouseDO
RGD		 PMID:8964914 PMID:9270614 PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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		 OMIM
ClinVar
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 chr17:57,496,437...57,501,182
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
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 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217 		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 chr15:103,148,840...103,155,119
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:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... 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 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217 		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 5:17,986,680...18,093,828
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 cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		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 chr15:103,148,840...103,155,119
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:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
secondary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      nervous system disease 13766
        central nervous system disease 12282
          autoimmune disease of central nervous system 308
            Demyelinating Autoimmune Diseases, CNS 301
              multiple sclerosis 186
                Balo concentric sclerosis 0
                Disseminated Sclerosis with Narcolepsy 0
                Opticospinal Multiple Sclerosis 1
                primary progressive multiple sclerosis 13
                progressive relapsing multiple sclerosis 0
                relapsing-remitting multiple sclerosis 23
                secondary progressive multiple sclerosis 1
Path 2
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      Immune & Inflammatory Diseases 5365
        immune system disease 4732
          primary immunodeficiency disease 4133
            autoimmune disease 2109
              autoimmune disease of the nervous system 608
                autoimmune disease of central nervous system 308
                  Demyelinating Autoimmune Diseases, CNS 301
                    multiple sclerosis 186
                      Balo concentric sclerosis 0
                      Disseminated Sclerosis with Narcolepsy 0
                      Opticospinal Multiple Sclerosis 1
                      primary progressive multiple sclerosis 13
                      progressive relapsing multiple sclerosis 0
                      relapsing-remitting multiple sclerosis 23
                      secondary progressive multiple sclerosis 1
paths to the root