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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
 broad_synonym: PDCD1-related condition;   TNFRSF1A-related condition
 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: 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 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:142,390,951...142,453,779 		JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:88,397,516...88,439,325
Ensembl chr13:88,404,048...88,439,318 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:88,457,396...88,463,438 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:176,437,073...176,488,978 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:12,233,351...12,290,204 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:32,326,020...32,335,379 		JBrowse link
G Bdnf brain-derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275 		JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:62,061,653...62,225,778 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,625,962...67,628,790 		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 chr10:67,567,876...67,569,426
Ensembl chr10:67,567,876...67,569,426 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:brain
DNA:polymorphism:promoter 		RGD PMID:9655469 PMID:12127674 RGD:6483814, RGD:6483818 NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,514,091...67,515,947 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593 		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 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar NCBI chr 8:88,334,736...88,449,463
Ensembl chr 8:88,334,736...88,449,462 		JBrowse link
G Cd24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr20:48,655,549...48,661,786
Ensembl chr20:48,655,805...48,661,785 		JBrowse link
G Cd28 Cd28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) 		CTD
RGD		 PMID:19525955 PMID:20634952 PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cd6 Cd6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:216,867,767...216,906,642
Ensembl chr 1:216,867,771...216,879,432 		JBrowse link
G Cd86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937 		JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:29,570,982...29,677,613
Ensembl chr 7:29,570,816...29,652,008 		JBrowse link
G Cfh complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association 		ISO DNA:polymorphism:exon:c.1632G>C, rs4774 (human)
DNA:polymorphism:promoter:-168A>G (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) 		RGD PMID:21653641 PMID:15821736 PMID:16426246 RGD:5491175, RGD:1358146, RGD:5491189 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,647,085...5,694,342 		JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:114,136,234...114,149,539 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:5,434,725...5,630,619 		JBrowse link
G Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:40,557,161...40,642,350
Ensembl chr17:41,011,641...41,070,252 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:48,802,321...48,813,652 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295 PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:219,312,512...219,314,488 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17086443 PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association ISO DNA:SNP:CDS:49A>G (human)
DNA:SNPs: :rs3087243,rs11571302(human) 		RGD PMID:17942509 PMID:19740340 PMID:10082437 RGD:2301975, RGD:7411672, RGD:1358538 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:17086443 PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:99,488,874...99,509,181 		JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113 		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:20926527 PMID:25741868 PMID:28492532 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		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 7:100,033,843...100,134,979
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:25790160 PMID:28492532 NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:43,631,517...44,025,533 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:93,472,832...93,474,207
Ensembl chr 9:100,920,249...100,921,624 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human) 		RGD PMID:8879222 PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		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:155,301,979...155,543,870
Ensembl chr  X:155,303,928...155,543,863 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility
no_association 		ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human) 		CTD
RGD		 PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:56,770,771...57,687,639 		JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression
susceptibility
onset 		ISO DNA:deletion: :
DNA:deletion: : (human)
DNA:deletion:: (human) 		RGD PMID:10680782 PMID:17437619 PMID:23932298 RGD:5490267, RGD:12792249, RGD:12792225 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:198,295,442...198,300,667 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:198,219,647...198,222,731 		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 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 no_association ISO DNA:deletion:: (human) RGD PMID:23932298 PMID:10680782 RGD:12792225, RGD:5490267 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:165,717,456...165,753,158
Ensembl chr 5:165,721,654...165,753,125 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:147,138,156...147,165,387 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Ifnb1 interferon beta 1 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 More... RGD:401854232 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487 		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 chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997 		JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum
protein:increased expression:cerebrospinal fluid 		RGD PMID:22031307 PMID:21677024 RGD:5684368, RGD:8549589 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		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 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		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 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
DNA:SNPs: :rs2201841,rs10889677,s7517847(human) 		RGD PMID:18368064 PMID:24547735 RGD:8549631, RGD:8549632 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 RGD:2311526 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Il6 interleukin 6 severity
treatment 		ISO DNA:polymorphism:promoter:-572 G>C(human)
DNA:polymorphism:promoter:-174G>C(human) 		RGD PMID:23202972 PMID:24155968 PMID:26285213 RGD:12791288, RGD:12792202, RGD:11079567 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389 		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 chr 2:60,179,561...60,204,937
Ensembl chr 2:60,181,382...60,211,027 		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 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27001614 PMID:28008999 PMID:28492532 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:142,743,334...143,066,504 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:20805994 PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,983,217...20,161,970 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		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 5:164,890,778...165,025,848
Ensembl chr 5:164,894,763...165,008,841 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Klhl6 kelch-like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:94,475,262...94,514,653
Ensembl chr11:94,475,262...94,514,623 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:103,415,411...103,422,682
Ensembl chr 1:103,416,886...103,422,690 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Lrch1 leucine rich repeats and calponin homology domain containing 1 ISS OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr15:50,070,605...50,249,724
Ensembl chr15:56,481,395...56,659,100 		JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr14:4,528,721...4,621,259
Ensembl chr14:4,531,823...4,620,049 		JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:53,376,197...53,384,406 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association
susceptibility 		ISO mRNA:increased expression:blood, mononuclear cell
DNA:SNP, repeat:promoter:-1562C>T (human)
DNA:repeat, SNP:promoter
DNA:SNP:promoter:-1562C>T (human) 		RGD PMID:23401127 PMID:20471697 PMID:10713364 PMID:19628284 RGD:13204754, RGD:13204848, RGD:13204826, RGD:13204795 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr20:1,514,110...1,528,716 JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:37,936,442...38,007,053
Ensembl chr12:37,936,885...38,003,348 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human)
DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human) 		RGD PMID:18708297 PMID:17619138 RGD:5490259, RGD:5490263 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:SNP::m.4917A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929 		JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:57,570,326...57,625,926
Ensembl chr 9:57,618,505...57,626,052 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:86,186,870...86,203,608 		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 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305 		JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:23,495,531...23,673,780
Ensembl chr17:23,495,492...23,675,668 		JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human) 		RGD PMID:31383792 PMID:33317883 RGD:127284875, RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		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:70,594,116...70,611,976
Ensembl chr  X:70,593,888...70,611,979 		JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:97,614,616...97,624,532 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: PDCD1-related condition ClinVar PMID:25741868 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:9,418,085...9,680,583 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27392081 PMID:28492532 PMID:29590070 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:109,768,447...109,828,089 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chr10:83,881,211...83,882,849
Ensembl chr10:83,881,185...83,882,849 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Prf1 perforin 1 ISO
ISS 		OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell 		MouseDO
RGD		 PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:51,210,330...52,430,304 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,668,739...4,674,421 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:52,147,717...52,259,746 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr14:61,551,366...61,736,220
Ensembl chr14:61,551,366...61,736,307 		JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 1:136,538,782...136,582,763
Ensembl chr 1:136,538,759...136,582,763 		JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:69,310,947...69,350,225 		JBrowse link
G Rnf217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 1:26,016,668...26,108,736
Ensembl chr 1:27,835,148...27,928,044 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*06 (human) 		OMIM
CTD
RGD		 PMID:21741664 PMID:21908482 PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human) 		CTD
RGD		 PMID:17660530 PMID:19834503 PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) 		CTD
RGD		 PMID:17956852 PMID:32560041 RGD:150429806 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574 		JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903 		JBrowse link
G Sh2d2a SH2 domain containing 2A susceptibility ISO DNA:repeat:promoter:-341(GA)13-33 (human)
DNA:polymorphism:promoter 		RGD PMID:18554728 PMID:11528519 RGD:2298871, RGD:1358573 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:175,609,874...175,616,685 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 no_association ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) 		CTD
RGD		 PMID:16597321 PMID:18973068 PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO RGD PMID:26290228 RGD:597538585 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:11721059 PMID:15885319 RGD:1581329, RGD:1581472 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:173,610,332...173,637,624
Ensembl chr 3:173,610,710...173,614,814 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association 		ISO DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human) 		RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279, RGD:6482281, RGD:6482280 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnf tumor necrosis factor disease_progression
no_association 		ISO
ISS 		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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO DNA:SNP:intron: (rs1800693) (human)
ClinVar Annotator: match by term: Multiple sclerosis | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 | ClinVar Annotator: match by term: TNFRSF1A-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:9585614 PMID:10199409 PMID:11443543 PMID:13130484 PMID:15312137 More... RGD:8661741 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,155,270...2,160,191 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:2,030,953...2,033,339 		JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:38,619,506...38,636,264 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:27,916,496...27,943,278 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vdr vitamin D receptor no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human) 		CTD
RGD		 PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 More... RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706 		JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:120,945,434...120,964,039
Ensembl chr 2:120,945,434...120,964,032 		JBrowse link
Opticospinal Multiple Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:17468440 RGD:8698645 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951 		JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Grn granulin precursor susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human) 		RGD PMID:21613335 PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		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 chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		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 9:98,247,300...98,258,877
Ensembl chr 9:98,246,605...98,260,214 		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 chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:55,434,168...55,438,164 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:66,160,942...66,200,806 		JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,619,897...31,653,268 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:136,644,307...136,689,760 		JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr 7:1,805,732...1,814,054
Ensembl chr 7:1,805,860...1,814,863 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		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 chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846 		JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		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 chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          autoimmune disease of central nervous system 393
            Demyelinating Autoimmune Diseases, CNS 386
              multiple sclerosis 227
                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 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          primary immunodeficiency disease 4502
            autoimmune disease 2380
              autoimmune disease of the nervous system 713
                autoimmune disease of central nervous system 393
                  Demyelinating Autoimmune Diseases, CNS 386
                    multiple sclerosis 227
                      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