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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
 primary_id: MESH:D009103
 alt_id: OMIM:126200;   OMIM:612594;   OMIM:612595;   OMIM:612596;   OMIM:614810
 xref: EFO:0003885;   GARD:10255;   ICD10CM:G35;   ICD9CM:340;   MONDO:0005301;   NCI:C3243;   OMIM:PS126200
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 ACAN aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr29:7,345,350...7,416,951 JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G AIM2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:4,759,746...4,884,460
Ensembl chr20:4,873,008...4,884,764 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOC2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 6:38,406,829...38,411,239
Ensembl chr 6:38,409,641...38,410,927 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G B4GALT5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 2:14,270,945...14,357,052
Ensembl chr 2:14,271,141...14,354,159 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:49,037,348...49,101,769
Ensembl chr18:49,037,225...49,102,502 		JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BDNF brain derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr12:75,441...335,980
Ensembl chr12:78,011...335,820 		JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849 		JBrowse link
G CAV1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		JBrowse link
G CBLB Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr22:74,961,831...75,181,307
Ensembl chr22:74,961,859...75,178,548 		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 chr16:27,868,925...27,890,143 JBrowse link
G CCL13 C-C motif chemokine ligand 13 ISO DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr16:27,864,260...27,867,457
Ensembl chr16:27,865,318...27,867,415 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr16:29,351,214...29,361,317 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 chr16:27,777,795...27,780,413 JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression ClinVar PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr13:66,863,164...66,868,951 JBrowse link
G CD28 CD28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387 		JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19525955 PMID:20190274 PMID:20634952 RGD:5490971 RGD:5490975 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416 		JBrowse link
G CD46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		JBrowse link
G CD58 CD58 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 PMID:24076602 NCBI chr20:17,152,663...17,208,646
Ensembl chr20:17,152,777...17,208,671 		JBrowse link
G CD6 CD6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:12,827,238...12,878,304
Ensembl chr 1:12,828,285...12,877,704 		JBrowse link
G CD86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CD96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr22:69,141,470...69,245,962
Ensembl chr22:69,140,288...69,244,097 		JBrowse link
G CDK17 cyclin dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:91,641,917...91,757,925
Ensembl chr11:91,640,374...91,757,876 		JBrowse link
G CFH complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr25:32,557,697...32,744,763 JBrowse link
G CIITA class II major histocompatibility complex transactivator no_association
susceptibility		 ISO DNA:polymorphism:exon:c.1632G>C, rs4774
DNA:polymorphism:promoter:rs3087456, no association in a German cohort
DNA:polymorphism:promoter:-168A>G		 RGD PMID:15821736 PMID:16426246 PMID:21653641 RGD:1358146 RGD:5491175 RGD:5491189 NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451 		JBrowse link
G CLDN11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr15:18,991,734...19,006,902
Ensembl chr15:18,991,042...19,006,866 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr14:100,804,295...100,820,565
Ensembl chr14:100,804,400...100,819,027 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:18676363 PMID:19473295 RGD:6483339 RGD:6483346 NCBI chr16:64,288,583...64,296,940
Ensembl chr16:64,289,828...64,296,922 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688 		JBrowse link
G CNTF ciliary neurotrophic factor onset ISO DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein RGD PMID:11890844 RGD:1626112 NCBI chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G CST3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:12589965 PMID:17086443 RGD:5686392 RGD:5686394 NCBI chr 2:52,834,497...52,838,785
Ensembl chr 2:52,832,181...52,838,865 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association ISO DNA:SNP:CDS:49A>G (human)
DNA:SNPs: :rs3087243,rs11571302(human)		 RGD PMID:10082437 PMID:17942509 PMID:19740340 RGD:1358538 RGD:2301975 RGD:7411672 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G CTSB cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 PMID:17086443 RGD:5686392 RGD:5686395 NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854 		JBrowse link
G CTSH cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855 		JBrowse link
G CTSL cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr12:98,347,770...98,353,426
Ensembl chr12:98,347,800...98,353,467 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:9837822 PMID:25741868 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		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 chr 8:127,010,303...127,103,343
Ensembl chr 8:127,008,619...127,103,300 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr10:126,587,748...126,592,419
Ensembl chr10:126,588,867...126,589,861 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr16:57,145,080...57,233,757
Ensembl chr16:57,145,191...57,236,230 		JBrowse link
G FASLG Fas ligand ISO CTD Direct Evidence: marker/mechanism
DNA:repeat:promoter:g.-46(CA)11-15 (human)		 CTD
RGD		 PMID:11438180 PMID:31068361 RGD:1358622 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr20:2,480,710...2,512,429 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr20:2,466,492...2,475,579 JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 ISO DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chr  X:126,735,146...126,999,990
Ensembl chr  X:126,735,288...127,000,017 		JBrowse link
G GC GC vitamin D binding protein susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)
protein:decreased expression:cerebrospinal fluid		 CTD
RGD		 PMID:12044990 PMID:12137326 PMID:18807170 PMID:19324981 PMID:25590278 RGD:5509885 RGD:5509887 RGD:5509922 RGD:5509923 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269 		JBrowse link
G GRM8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr21:95,264,905...96,060,822
Ensembl chr21:95,264,765...96,050,554 		JBrowse link
G GRN granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr16:62,037,344...62,045,765
Ensembl chr16:62,036,412...62,045,614 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr20:23,797,794...23,802,910
Ensembl chr20:23,799,177...23,802,921 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr20:122,502,084...122,531,214
Ensembl chr20:122,503,687...122,526,074 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr17:27,914,261...27,921,666
Ensembl chr17:27,911,013...27,921,251 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IFNG interferon gamma susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:repeat:intron: (human)		 CTD
RGD		 PMID:9818947 PMID:23517930 RGD:1358738 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr15:30,887,048...30,896,577
Ensembl chr15:30,887,897...30,894,550 		JBrowse link
G IL13 interleukin 13 severity ISO protein:increased expression:cerebrospinal fluid
protein:increased expression:serum		 RGD PMID:21677024 PMID:22031307 RGD:5684368 RGD:8549589 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21455110 PMID:23517930 RGD:8698672 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785 		JBrowse link
G IL1B interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:10025794 PMID:15210533 PMID:25458313 RGD:1358741 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL21R interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695 RGD:6892963 NCBI chr 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703 		JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)		 RGD PMID:18368064 PMID:24547735 RGD:8549631 RGD:8549632 NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple		 CTD
RGD		 PMID:17660530 PMID:19119414 PMID:19125193 PMID:19525955 PMID:24076602 RGD:2311526 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447 		JBrowse link
G IL4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
G IL4R interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
G IL6 interleukin 6 treatment
severity		 ISO DNA:polymorphism:promoter:-174G>C(human)
DNA:polymorphism:promoter:-572 G>C(human)		 RGD PMID:23202972 PMID:24155968 PMID:26285213 RGD:11079567 RGD:12791288 RGD:12792202 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 ClinVar PMID:21664875 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 More... NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361 		JBrowse link
G IRF5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:20861862 PMID:25392335 RGD:11055911 RGD:40924643 NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945 		JBrowse link
G IRF8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:16934875 PMID:20805994 RGD:6482233 RGD:6482240 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:56,651,752...56,928,650
Ensembl chr17:56,651,596...56,928,126 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G KIF1B kinesin family member 1B susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1590+932T>C (rs10492972) (human)		 CTD
RGD		 PMID:18997785 PMID:20502484 RGD:12738462 RGD:12738463 NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803 		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 chr11:53,458,795...53,493,801 JBrowse link
G KLHL6 kelch like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr15:5,844,728...5,912,392
Ensembl chr15:5,845,721...5,913,734 		JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 6:43,980,680...43,991,873
Ensembl chr 6:43,980,701...43,990,060 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility
disease_progression
onset		 ISO DNA:deletion: : (human)
DNA:deletion:: (human)		 RGD PMID:10680782 PMID:17437619 PMID:23932298 RGD:12792225 RGD:12792249 RGD:5490267 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LRCH1 leucine rich repeats and calponin homology domain containing 1 ISO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr 3:24,545,641...24,748,992 JBrowse link
G LRRC8C leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:43,752,341...43,842,958
Ensembl chr20:43,752,370...43,842,766 		JBrowse link
G MAG myelin associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 6:30,224,873...30,246,277
Ensembl chr 6:30,227,442...30,246,481 		JBrowse link
G MBP myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 1:110,682,631...110,691,717
Ensembl chr 1:110,684,458...110,691,707 		JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human)
DNA:polymorphism: :HLA-DPB1*0501 (human)		 CTD
RGD		 PMID:17125797 PMID:17956852 PMID:32560041 RGD:150429801 RGD:150429806 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
G MHC-DRA major histocompatibility complex, class II, DR alpha ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
DNA:polymorphism:promoter (human)
DNA:SNPs: :multiple (human)		 CTD
RGD		 PMID:10527398 PMID:17660530 PMID:19834503 RGD:5490159 RGD:5490202 RGD:5490204 NCBI chr17:39,623,324...39,628,464
Ensembl chr17:39,622,402...39,629,261 		JBrowse link
G MMP12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP9 matrix metallopeptidase 9 no_association
susceptibility		 ISO DNA:repeat, SNP:promoter
mRNA:increased expression:blood, mononuclear cell
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP, repeat:promoter:-1562C>T (human)		 RGD PMID:10713364 PMID:19628284 PMID:20471697 PMID:23401127 RGD:13204754 RGD:13204795 RGD:13204826 RGD:13204848 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr17:42,947,174...42,963,046
Ensembl chr17:42,947,279...42,962,159 		JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr11:118,496,485...118,576,904
Ensembl chr11:118,495,466...118,574,162 		JBrowse link
G NABP1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr10:77,210,624...77,222,340
Ensembl chr10:77,210,702...77,218,289 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 severity
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)
DNA:SNPs: :multiple		 CTD
RGD		 PMID:16738668 PMID:17376543 RGD:6767558 RGD:6767565 NCBI chr 6:38,320,791...38,361,419
Ensembl chr 6:38,320,933...38,361,742 		JBrowse link
G NEDD9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:60,759,411...60,959,558
Ensembl chr17:60,911,264...60,959,603 		JBrowse link
G NEFH neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr19:12,357,982...12,375,449 JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human)		 RGD PMID:31383792 PMID:33317883 RGD:127284875 RGD:127285024 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages RGD PMID:11829348 RGD:5508481 NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
G NONO non-POU domain containing octamer binding ISO mRNA:altered expression:peripheral blood mononuclear cell (human) RGD PMID:29100048 RGD:156420155 NCBI chr  X:61,082,923...61,110,895 JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		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 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501 		JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr11:116,505,975...116,560,151
Ensembl chr11:116,529,346...116,563,059 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression ClinVar
OMIM		 PMID:12402038 PMID:15912506 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr13:29,401,562...29,702,719
Ensembl chr13:29,401,382...29,560,452 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr17:25,538,645...25,571,230
Ensembl chr17:25,538,438...25,574,269 		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 chr16:66,496,290...66,498,840
Ensembl chr16:66,496,027...66,499,111 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PRF1 perforin 1 ISO DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
protein:increased expression:blood, T cell		 RGD
MouseDO		 PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805 RGD:6482817 RGD:6482820 NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr13:88,856,056...90,329,379 JBrowse link
G PRNP prion protein (Kanno blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr25:30,655,014...30,777,367
Ensembl chr25:30,653,044...30,777,303 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr27:23,911,084...24,023,856 JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr29:11,592,929...11,638,955
Ensembl chr29:11,592,604...11,638,860 		JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704 		JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 8:95,107,679...95,161,592
Ensembl chr 8:95,105,016...95,139,012 		JBrowse link
G RNF217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr13:48,612,687...48,743,821 JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr25:59,305,610...59,333,789
Ensembl chr25:59,322,913...59,330,668 		JBrowse link
G SH2D2A SH2 domain containing 2A susceptibility ISO DNA:repeat:promoter:-341(GA)13-33 (human)
DNA:polymorphism:promoter		 RGD PMID:11528519 PMID:18554728 RGD:1358573 RGD:2298871 NCBI chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 no_association ISO DNA:repeat:promoter (human)
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15584484 PMID:16597321 PMID:18973068 RGD:5684937 RGD:5684960 NCBI chr10:104,276,553...104,288,466 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 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:18,471,183...18,475,941
Ensembl chr 2:18,472,155...18,475,801 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association		 ISO DNA:SNPs:CDs:p.V379I, A565T(human)
DNA:synonymous mutation: :		 RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279 RGD:6482280 RGD:6482281 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNF tumor necrosis factor disease_progression
no_association		 ISO OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP:promoter:-308G>A (human)		 RGD
MouseDO		 PMID:8887999 PMID:8964914 PMID:9270614 RGD:12904068 RGD:12904657 RGD:7401237
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 ClinVar
OMIM		 PMID:22801493 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TNFSF14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 6:6,235,641...6,241,706
Ensembl chr 6:6,236,193...6,241,311 		JBrowse link
G TNFSF9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 6:6,131,157...6,136,345
Ensembl chr 6:6,131,571...6,135,463 		JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr12:18,647,131...18,672,685
Ensembl chr12:18,650,190...18,670,643 		JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		JBrowse link
G VDR vitamin D receptor susceptibility
no_association		 ISO DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :rs731236,rs7975232(human)		 RGD
CTD		 PMID:21664963 PMID:25685788 PMID:25853421 PMID:26540116 PMID:27049563 RGD:11353119 RGD:11530654 RGD:13210790 RGD:5147559 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr19:11,670,605...11,677,168 JBrowse link
G ZNF267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 5:28,517,588...28,561,125
Ensembl chr 5:28,517,720...28,561,117 		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 chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		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 chr 9:60,538,718...60,625,903
Ensembl chr 9:60,540,303...60,625,570 		JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G CD274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806 		JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G GRN granulin precursor susceptibility ISO DNA:SNPs: :rs2879096, rs4792938(human)
protein:increased expression:cerebrospinal fluids		 RGD PMID:20463744 PMID:21613335 RGD:5509591 RGD:5509596 NCBI chr16:62,037,344...62,045,765
Ensembl chr16:62,036,412...62,045,614 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr11:50,397,173...50,403,192
Ensembl chr11:50,396,888...50,400,802 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G IL4R interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		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 chr10:122,558,998...122,573,747
Ensembl chr10:122,571,853...122,572,941 		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 chr 9:60,538,718...60,625,903
Ensembl chr 9:60,540,303...60,625,570 		JBrowse link
G APOA4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:20855355 RGD:6893496 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD80 CD80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr22:61,258,281...61,294,772 JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342 		JBrowse link
G CTSS cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146
G GRN granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr16:62,037,344...62,045,765
Ensembl chr16:62,036,412...62,045,614 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr23:59,422,769...59,454,183
Ensembl chr23:59,423,334...59,453,531 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr11:50,397,173...50,403,192
Ensembl chr11:50,396,888...50,400,802 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562 		JBrowse link
G KLC1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr24:81,617,049...81,632,845 JBrowse link
G MMP19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr11:51,786,076...51,794,325 JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NEFH neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr19:12,357,982...12,375,449 JBrowse link
G NEFL neurofilament light chain ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)		 RGD PMID:30761586 PMID:33658322 RGD:127285025 RGD:127285027 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		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 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023 		JBrowse link
G SERPINE1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825
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 chr11:50,397,173...50,403,192
Ensembl chr11:50,396,888...50,400,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        central nervous system disease 11626
          autoimmune disease of central nervous system 294
            Demyelinating Autoimmune Diseases, CNS 287
              multiple sclerosis 177
                Balo concentric sclerosis 0
                Disseminated Sclerosis with Narcolepsy 0
                Opticospinal Multiple Sclerosis 1
                primary progressive multiple sclerosis 11
                progressive relapsing multiple sclerosis 0
                relapsing-remitting multiple sclerosis 22
                secondary progressive multiple sclerosis 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      Immune & Inflammatory Diseases 4945
        immune system disease 4304
          primary immunodeficiency disease 3709
            autoimmune disease 1982
              autoimmune disease of the nervous system 553
                autoimmune disease of central nervous system 294
                  Demyelinating Autoimmune Diseases, CNS 287
                    multiple sclerosis 177
                      Balo concentric sclerosis 0
                      Disseminated Sclerosis with Narcolepsy 0
                      Opticospinal Multiple Sclerosis 1
                      primary progressive multiple sclerosis 11
                      progressive relapsing multiple sclerosis 0
                      relapsing-remitting multiple sclerosis 22
                      secondary progressive multiple sclerosis 1
paths to the root