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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.


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 IAGP RGD PMID:11498265 RGD:1549857 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ACAN aggrecan IEP protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACHE acetylcholinesterase (Yt blood group) IEP protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGER advanced glycosylation end-product specific receptor susceptibility IAGP DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen IEP protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AIM2 absent in melanoma 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:159,055,051...159,147,132
Ensembl chr 1:159,061,599...159,187,843 		JBrowse link
G APOA1 apolipoprotein A1 IEP protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOC2 apolipoprotein C2 IAGP RGD PMID:10335523 RGD:1358408 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOE apolipoprotein E IEA
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:15048896 PMID:15118671 RGD:1331525 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G B4GALT5 beta-1,4-galactosyltransferase 5 IEP mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr20:49,632,945...49,713,878
Ensembl chr20:49,632,945...49,713,878 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 IEP mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836 		JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G BCL2L2 BCL2 like 2 IEP mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751 		JBrowse link
G BDNF brain derived neurotrophic factor onset IEP protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IEP RGD PMID:11353727 RGD:1580151 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250 		JBrowse link
G CAV1 caveolin 1 IAGP DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBLB Cbl proto-oncogene B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 IAGP DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233 		JBrowse link
G CCL13 C-C motif chemokine ligand 13 IAGP DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 IEP
IAGP		 mRNA,protein:increased expression:brain
DNA:polymorphism:promoter		 RGD PMID:9655469 PMID:12127674 RGD:6483814, RGD:6483818 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP RGD PMID:21427490 RGD:6892919 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP
IEP		 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 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression ClinVar PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117 		JBrowse link
G CD24 CD24 molecule IAGP RGD PMID:14657362 RGD:1358462 NCBI chr 6:106,969,831...106,976,855
Ensembl chr 6:106,969,831...106,975,627 		JBrowse link
G CD28 CD28 molecule IAGP DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912 		JBrowse link
G CD40 CD40 molecule susceptibility IAGP
EXP		 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 chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD44 CD44 molecule (IN blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402 		JBrowse link
G CD46 CD46 molecule IDA RGD PMID:21177319 RGD:6483460 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CD58 CD58 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19525955 PMID:24076602 NCBI chr 1:116,514,534...116,571,026
Ensembl chr 1:116,514,534...116,571,039 		JBrowse link
G CD6 CD6 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr11:60,971,680...61,020,377
Ensembl chr11:60,971,680...61,020,377 		JBrowse link
G CD86 CD86 molecule susceptibility IAGP DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CD96 CD96 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CDK17 cyclin dependent kinase 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr12:96,278,225...96,400,439
Ensembl chr12:96,278,261...96,400,480 		JBrowse link
G CFH complement factor H no_association IEP RGD PMID:21618592 RGD:5684555 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility
no_association		 IAGP DNA:polymorphism:exon:c.1632G>C, rs4774
DNA:polymorphism:promoter:-168A>G
DNA:polymorphism:promoter:rs3087456, no association in a German cohort		 RGD PMID:21653641 PMID:15821736 PMID:16426246 RGD:5491175, RGD:1358146, RGD:5491189 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLDN11 claudin 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G CLEC16A C-type lectin domain containing 16A IAGP
EXP		 DNA:polymorphism:intron:g.194570G>A, rs7184083
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186 		JBrowse link
G CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:25,081,067...25,138,392
Ensembl chr 6:25,081,862...25,138,081 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 IEP mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IEP
IDA		 RGD PMID:19473295 PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347 		JBrowse link
G CNTF ciliary neurotrophic factor onset IAGP 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 chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IEP mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CST3 cystatin C ISO
IEP		 protein:decreased expression:cerebrospinal fluid RGD PMID:17086443 PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association IAGP 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 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSB cathepsin B ISO
IEP		 protein:increased expression:cerebrospinal fluid RGD PMID:17086443 PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G CTSH cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574 		JBrowse link
G CTSL cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:9837822 PMID:25741868 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DUSP28 dual specificity phosphatase 28 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256 		JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr17:64,039,142...64,130,144
Ensembl chr17:64,039,080...64,130,819 		JBrowse link
G FAS Fas cell surface death receptor susceptibility IEP
IAGP		 protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)		 RGD PMID:8879222 PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP
EXP		 DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR2A Fc gamma receptor IIa no_association IAGP DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR3A Fc gamma receptor IIIa disease_progression IEP protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GC GC vitamin D binding protein susceptibility
no_association		 IAGP
EXP
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)		 CTD
RGD		 PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GLI1 GLI family zinc finger 1 IEP RGD PMID:18991353 RGD:12801440 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GRM8 glutamate metabotropic receptor 8 IEP protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 7:126,438,598...127,252,941
Ensembl chr 7:126,438,598...127,253,093 		JBrowse link
G GRN granulin precursor IEP protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
susceptibility
onset		 IAGP DNA:deletion: :
DNA:deletion: : (human)
DNA:deletion:: (human)		 RGD PMID:10680782 PMID:17437619 PMID:23932298 RGD:5490267, RGD:12792249, RGD:12792225 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 disease_progression IAGP DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression IAGP DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 no_association IAGP DNA:deletion:: (human) RGD PMID:23932298 PMID:10680782 RGD:12792225, RGD:5490267
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G HDAC1 histone deacetylase 1 IEP protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility EXP
IAGP		 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:17956852 PMID:32560041 PMID:17125797 RGD:150429806, RGD:150429801 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP
EXP		 DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
DNA:polymorphism:cds:HLA-DQB1*06 (human)		 OMIM
CTD
RGD		 PMID:21741664 PMID:15201511 PMID:21908482 PMID:20463743 RGD:5147555, RGD:40818409, RGD:7421588, RGD:5147658 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IAGP
EXP		 DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)		 CTD
RGD		 PMID:17660530 PMID:17660530 PMID:10527398 PMID:19834503 RGD:5490159, RGD:5490204, RGD:5490202 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility
onset		 IAGP
EXP		 DNA:polymorphism: :HLA-DRB*1501 (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
DNA:polymorphism:cds:HLA-DRB1*1302 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism: :HLA-DRB1*0801 (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)		 ClinVar
OMIM
CTD
RGD		 PMID:25741868 PMID:25911099 PMID:21741664 PMID:15201511 PMID:20207784 More... RGD:5147555, RGD:40818409, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HLA-DRB3 major histocompatibility complex, class II, DR beta 3 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB3*0202, *0301 (human) RGD PMID:15201511 RGD:40818409
G HSP90AB1 heat shock protein 90 alpha family class B member 1 IDA RGD PMID:14688203 RGD:5686803 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 IEP protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNB1 interferon beta 1 treatment EXP
IDA		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 More... RGD:401854232 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942 		JBrowse link
G IFNG interferon gamma susceptibility IAGP
EXP		 DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23517930 PMID:9818947 RGD:1358738 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF2 insulin like growth factor 2 IEP protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL10 interleukin 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL13 interleukin 13 severity IEP protein:increased expression:serum
protein:increased expression:cerebrospinal fluid		 RGD PMID:22031307 PMID:21677024 RGD:5684368, RGD:8549589 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A IEP
EXP		 protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23517930 PMID:21455110 RGD:8698672 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL1B interleukin 1 beta severity IAGP
EXP		 CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:15210533 PMID:25458313 PMID:10025794 RGD:1358741 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL21R interleukin 21 receptor IAGP
IEP		 DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IL23R interleukin 23 receptor no_association IAGP 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 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP
EXP		 DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 RGD:2311526 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL32 interleukin 32 IEP protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G IL4 interleukin 4 onset IAGP DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL4R interleukin 4 receptor IAGP RGD PMID:14712310 RGD:4890395 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 severity
treatment		 IAGP
IDA		 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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL7 interleukin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523 		JBrowse link
G IL7R interleukin 7 receptor EXP
IAGP		 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 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IRF5 interferon regulatory factor 5 susceptibility IDA
IAGP		 DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335 PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF8 interferon regulatory factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 disease_progression IEP
IAGP		 RGD PMID:20805994 PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KIF1B kinesin family member 1B susceptibility
no_association		 IAGP
EXP		 DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18997785 PMID:18997785 PMID:20502484 RGD:12738462, RGD:12738463 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KIF5A kinesin family member 5A susceptibility IAGP DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KLHL6 kelch like family member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:183,487,551...183,555,706
Ensembl chr 3:183,487,551...183,555,706 		JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr19:50,958,631...50,969,591
Ensembl chr19:50,958,631...50,969,673 		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 chr13:46,553,170...46,753,041
Ensembl chr13:46,553,168...46,753,040 		JBrowse link
G LRRC8C leucine rich repeat containing 8 VRAC subunit C EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:89,615,824...89,719,533
Ensembl chr 1:89,633,072...89,769,903 		JBrowse link
G MAG myelin associated glycoprotein IEP RGD PMID:2419505 RGD:9685292 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MBP myelin basic protein IAGP RGD PMID:1691612 RGD:1358488 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G MCAM melanoma cell adhesion molecule EXP CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MMP12 matrix metallopeptidase 12 susceptibility IAGP DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 no_association
susceptibility		 IEP
IAGP		 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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein IDA RGD PMID:17142321 RGD:9685374 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 susceptibility IAGP DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:123,152,324...123,244,002
Ensembl chr12:123,152,320...123,244,014 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP 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:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IEP DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP DNA:SNP::m.4917A>G RGD PMID:18708297 RGD:5490259 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G NABP1 nucleic acid binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP RGD PMID:18682780 RGD:6482255 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 severity
no_association		 IAGP
EXP		 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 chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223 		JBrowse link
G NEDD9 neural precursor cell expressed, developmentally down-regulated 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:11,183,298...11,382,348
Ensembl chr 6:11,183,298...11,382,348 		JBrowse link
G NEFH neurofilament heavy chain severity IEP RGD PMID:16764346 RGD:27226808 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain disease_progression IEP protein:increased expresssion:serum (human)
protein:increased expression:serum (human)		 RGD PMID:31383792 PMID:33317883 RGD:127284875, RGD:127285024 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NGFR nerve growth factor receptor IEP protein:increased expression:reactive astrocytes, microglia/macrophages RGD PMID:11829348 RGD:5508481 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NONO non-POU domain containing octamer binding HEP mRNA:altered expression:peripheral blood mononuclear cell (human) RGD PMID:29100048 RGD:156420155 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOTCH4 notch receptor 4 IAGP DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IAGP ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G P2RX7 purinergic receptor P2X 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:121,132,876...121,188,032
Ensembl chr12:121,132,819...121,188,032 		JBrowse link
G PDCD1 programmed cell death 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12402038 PMID:15912506 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 IAGP DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 6:143,536,878...143,831,185
Ensembl chr 6:143,536,845...143,831,185 		JBrowse link
G PLA2G7 phospholipase A2 group VII IEP protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase IAGP DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PRF1 perforin 1 ISO
ISS
IAGP
IEP		 OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell		 MouseDO
RGD		 PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IEP protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRNP prion protein (Kanno blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP RGD PMID:20174631 RGD:6483446 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region EXP CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a IAGP DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr15:93,035,271...93,089,211
Ensembl chr15:93,035,271...93,089,211 		JBrowse link
G RHOA ras homolog family member A IEP protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 8:100,257,067...100,336,204
Ensembl chr 8:100,257,060...100,336,218 		JBrowse link
G RNF217 ring finger protein 217 IAGP ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 6:124,962,437...125,092,634
Ensembl chr 6:124,962,437...125,092,633 		JBrowse link
G SELE selectin E EXP CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G SH2D2A SH2 domain containing 2A susceptibility IAGP DNA:repeat:promoter:-341(GA)13-33 (human)
DNA:polymorphism:promoter		 RGD PMID:11528519 PMID:18554728 RGD:1358573, RGD:2298871 NCBI chr 1:156,806,243...156,816,848
Ensembl chr 1:156,806,243...156,816,848 		JBrowse link
G SHH sonic hedgehog signaling molecule IEP RGD PMID:18991353 RGD:12801440 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 no_association IAGP
EXP		 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 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP
IDA		 DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:15885319 PMID:11721059 RGD:1581472, RGD:1581329 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G SYS1 SYS1 golgi trafficking protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:45,361,949...45,376,798
Ensembl chr20:45,361,937...45,376,798 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association		 IAGP DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human)		 RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279, RGD:6482281, RGD:6482280 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TLR4 toll like receptor 4 IEP mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor disease_progression
no_association		 IEP
ISS
IAGP		 OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP:promoter:-308G>A (human)		 MouseDO
RGD		 PMID:8964914 PMID:9270614 PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility IAGP
EXP		 DNA:SNP:intron: (rs1800693) (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 More... RGD:8661741 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFSF14 TNF superfamily member 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr19:6,661,253...6,670,588
Ensembl chr19:6,661,253...6,670,588 		JBrowse link
G TNFSF9 TNF superfamily member 9 IEP protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr19:6,531,026...6,535,924
Ensembl chr19:6,531,026...6,535,924 		JBrowse link
G TRAF1 TNF receptor associated factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:120,902,393...120,929,171
Ensembl chr 9:120,902,393...120,929,173 		JBrowse link
G TYK2 tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,533...10,380,608 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G VDR vitamin D receptor no_association
susceptibility		 TAS
EXP
IAGP
IEA		 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, RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G XBP1 X-box binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597 		JBrowse link
G ZNF267 zinc finger protein 267 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr16:31,873,807...31,917,357
Ensembl chr16:31,873,807...31,917,357 		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 IDA RGD PMID:17468440 RGD:8698645 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		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 IAGP DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:70,672,506...70,762,441
Ensembl chr10:70,672,506...70,762,441 		JBrowse link
G BCHE butyrylcholinesterase IEP RGD PMID:20122907 RGD:5687690 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G CD274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G GC GC vitamin D binding protein IEP protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GRN granulin precursor susceptibility IEP
IAGP		 protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)		 RGD PMID:21613335 PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression IEP RGD PMID:15732261 RGD:1626118 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IL4R interleukin 4 receptor IAGP DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:14504963 RGD:13204808 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G SHH sonic hedgehog signaling molecule IEP RGD PMID:12926841 RGD:12801414 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chr 2:236,537,122...236,582,354
Ensembl chr 2:236,567,787...236,582,354 		JBrowse link
G ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 IAGP DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr10:70,672,506...70,762,441
Ensembl chr10:70,672,506...70,762,441 		JBrowse link
G APOA4 apolipoprotein A4 onset IEP protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP RGD PMID:20855355 RGD:6893496 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD80 CD80 molecule IEP protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 IDA RGD PMID:10976643 RGD:5686865 NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848 		JBrowse link
G CTSS cathepsin S IEP mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957 		JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G GRN granulin precursor disease_progression IEP protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 IEP RGD PMID:15153541 RGD:5128853 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 IEP protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230 		JBrowse link
G KLC1 kinesin light chain 1 susceptibility IAGP DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249 		JBrowse link
G MMP19 matrix metallopeptidase 19 IEP mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr12:55,835,433...55,842,936
Ensembl chr12:55,835,433...55,842,966 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment IEP RGD PMID:16412833 RGD:13204825 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NEFH neurofilament heavy chain treatment IEP RGD PMID:15222692 RGD:27226879 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IEP associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)		 RGD PMID:30761586 PMID:33658322 RGD:127285025, RGD:127285027 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 disease_progression IAGP DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOG noggin IEP mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
G SERPINE1 serpin family E member 1 disease_progression IEP protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:16412833 RGD:13204825 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		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 IAGP ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          autoimmune disease of central nervous system 352
            Demyelinating Autoimmune Diseases, CNS 345
              multiple sclerosis 226
                Balo concentric sclerosis 0
                Disseminated Sclerosis with Narcolepsy 0
                Opticospinal Multiple Sclerosis 1
                primary progressive multiple sclerosis 14
                progressive relapsing multiple sclerosis 0
                relapsing-remitting multiple sclerosis 23
                secondary progressive multiple sclerosis 1
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      Immune & Inflammatory Diseases 6739
        immune system disease 5902
          primary immunodeficiency disease 5026
            autoimmune disease 2542
              autoimmune disease of the nervous system 638
                autoimmune disease of central nervous system 352
                  Demyelinating Autoimmune Diseases, CNS 345
                    multiple sclerosis 226
                      Balo concentric sclerosis 0
                      Disseminated Sclerosis with Narcolepsy 0
                      Opticospinal Multiple Sclerosis 1
                      primary progressive multiple sclerosis 14
                      progressive relapsing multiple sclerosis 0
                      relapsing-remitting multiple sclerosis 23
                      secondary progressive multiple sclerosis 1
paths to the root