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
Accession: DOID:2377
browse the term
Definition: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)
Synonyms: exact_synonym: MS; MS (Multiple Sclerosis); acute fulminating multiple sclerosis; disseminated sclerosis; generalized multiple sclerosis; insular sclerosis
related_synonym: MS1; MS2; MS3; MS4; MS5; multiple sclerosis modifier of disease progression; multiple sclerosis, susceptibility to; multiple sclerosis, susceptibility to, 1; multiple sclerosis, susceptibility to, 2; multiple sclerosis, susceptibility to, 3; multiple sclerosis, susceptibility to, 4; multiple sclerosis, susceptibility to, 5
xref: EFO:0003885 ; GARD:10255 ; ICD10CM:G35 ; ICD9CM:340 ; MESH:D009103 ; MIM:126200 ; MIM:612594 ; MIM:612595 ; MIM:612596 ; MIM:614810 ; MIM:PS126200 ; MONDO:0005301 ; NCI:C3243
For additional species annotation, visit the
Alliance of Genome Resources .
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A2m
alpha-2-macroglobulin
ISO
RGD
PMID:11498265
RGD:1549857
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Acan
aggrecan
ISO
protein:altered expression:central nervous system, plaque (human)
RGD
PMID:11764092
RGD:2315836
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Ache
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:20714168
RGD:5686885
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
susceptibility
ISO
DNA:polymorphism:cds:p.G82S rs2070600 (human)
RGD
PMID:21511691
RGD:6767562
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
protein:decreased expression:brain,astrocyte:
RGD
PMID:17715340
RGD:13432361
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Aim2
absent in melanoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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Apoa1
apolipoprotein A1
ISO
protein:increased expression: serum
RGD
PMID:20350318
RGD:5508215
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc2
apolipoprotein C2
ISO
RGD
PMID:10335523
RGD:1358408
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15048896 PMID:15118671
RGD:1331525
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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B4galt5
beta-1,4-galactosyltransferase 5
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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B4galt6
beta-1,4-galactosyltransferase 6
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20122907
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bcl2l2
Bcl2-like 2
ISO
mRNA:decreased expression:brain:
RGD
PMID:24270187
RGD:14394512
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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Bdnf
brain-derived neurotrophic factor
onset
ISO
protein:decreased expression:serum
RGD
PMID:20656764
RGD:5684915
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Cav1
caveolin 1
ISO
DNA:repeats, haplotypes:multiple
RGD
PMID:19828204
RGD:8661778
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cblb
Cbl proto-oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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Ccl1
C-C motif chemokine ligand 1
ISO
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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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 chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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Ccl2
C-C motif chemokine ligand 2
ISO
DNA:SNPs, haplotype
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:brain, frontal cortex (human)
RGD
PMID:11091283
RGD:4890028
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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 chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:21427490
RGD:6892919
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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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 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:12451219 PMID:12111306 More...
RGD:1358460 , RGD:8551829
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd24
CD24 molecule
ISO
RGD
PMID:14657362
RGD:1358462
NCBI chr20:47,074,353...47,079,662
Ensembl chr20:47,073,512...47,079,662
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Cd28
Cd28 molecule
ISO
DNA:SNP:promoter:-372G>A (human)
RGD
PMID:14975605
RGD:1358478
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd46
CD46 molecule
ISO
RGD
PMID:21177319
RGD:6483460
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd6
Cd6 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953 PMID:24076602
NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634
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Cd86
CD86 molecule
susceptibility
ISO
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
RGD
PMID:26531698
RGD:11354964
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cd96
CD96 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
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Cdk17
cyclin-dependent kinase 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:27,683,890...27,765,814
Ensembl chr 7:27,683,890...27,764,910
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Cfh
complement factor H
no_association
ISO
RGD
PMID:21618592
RGD:5684555
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cldn11
claudin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25911099
NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
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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 chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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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 chr17:40,583,667...40,642,275
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Cmpk2
cytidine/uridine monophosphate kinase 2
ISO
mRNA:altered expression:PMN cell (human)
RGD
PMID:20136355
RGD:5133255
NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:19473295 PMID:18676363
RGD:6483339 , RGD:6483346
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12876144
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Cntf
ciliary neurotrophic factor
onset
ISO
RGD
PMID:11890844
RGD:1626112
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:brain
RGD
PMID:20456365
RGD:5688302
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:12589965
RGD:5686392 , RGD:5686394
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctsb
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:11134381
RGD:5686392 , RGD:5686395
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsh
cathepsin H
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Ctsl
cathepsin L
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:9837822 PMID:25741868
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Dusp28
dual specificity phosphatase 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:93,472,832...93,474,207
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12646761
RGD:8661710
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr2a
Fc gamma receptor 2A
no_association
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:12864991
RGD:5147977
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
disease_progression
ISO
protein:increased expression:gamma-delta T cell
RGD
PMID:18155780
RGD:5508375
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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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:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559
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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 chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gli1
GLI family zinc finger 1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Grm8
glutamate metabotropic receptor 8
ISO
protein:increased expression:astrocyte, microglia, macrophage
RGD
PMID:15589052
RGD:6771187
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
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Grn
granulin precursor
ISO
protein:increased expression:macrophage, microglia
RGD
PMID:21613335
RGD:5509591
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstm3
glutathione S-transferase mu 3
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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Gstm5
glutathione S-transferase, mu 5
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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Gstp1
glutathione S-transferase pi 1
disease_progression
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10680782
RGD:5490267
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
no_association
ISO
DNA:deletion:: (human)
RGD
PMID:23932298 PMID:10680782
RGD:12792225 , RGD:5490267
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:SNP:exon: rs17368528 (human)
RGD
PMID:19935835
RGD:6784513
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:cytoplasm:
RGD
PMID:20037577
RGD:9590131
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hsp90ab1
heat shock protein 90 alpha family class B member 1
ISO
RGD
PMID:14688203
RGD:5686803
NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression: cerebrospinal fluid
RGD
PMID:16303141
RGD:6480236
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifnb1
interferon beta 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 PMID:15389896 More...
RGD:401854232
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Ifng
interferon gamma
susceptibility
ISO
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:9818947
RGD:1358738
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf2
insulin-like growth factor 2
ISO
protein:increased expression:macrophage
RGD
PMID:10417663
RGD:5510017
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23517930
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il13
interleukin 13
severity
ISO
protein:increased expression:serum protein:increased expression:cerebrospinal fluid
RGD
PMID:22031307 PMID:21677024
RGD:5684368 , RGD:8549589
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:21455110
RGD:8698672
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:15210533 PMID:25458313 PMID:10025794
RGD:1358741
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il21r
interleukin 21 receptor
ISO
DNA:polymorphisms: :
RGD
PMID:20072140 PMID:21281812
RGD:6892695 , RGD:6892963
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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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 chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Il4
interleukin 4
onset
ISO
DNA:repeat:intron 3:allele B1 (human)
RGD
PMID:9184650
RGD:1358745
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
ISO
RGD
PMID:14712310
RGD:4890395
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17660816
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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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 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:28436970 PMID:28492532 PMID:32576985 PMID:32765500 More...
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf5
interferon regulatory factor 5
susceptibility
ISO
DNA:SNPs: :rs3807306, rs4728142 (human)
RGD
PMID:25392335 PMID:20861862
RGD:11055911 , RGD:40924643
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Jag1
jagged canonical Notch ligand 1
disease_progression
ISO
RGD
PMID:20805994 PMID:16934875
RGD:6482233 , RGD:6482240
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Jarid2
jumonji and AT-rich interaction domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24070676
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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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 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Kif5a
kinesin family member 5A
susceptibility
ISO
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
RGD
PMID:20508602
RGD:12793067
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Klhl6
kelch-like family member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
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Klk6
kallikrein related-peptidase 6
ISO
RGD
PMID:11802715
RGD:2314867
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
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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 chr15:50,071,947...50,249,657
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Lrrc8c
leucine rich repeat containing 8 VRAC subunit C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr14:4,223,901...4,315,590
Ensembl chr14:4,227,832...4,315,249
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Mag
myelin-associated glycoprotein
ISO
RGD
PMID:2419505
RGD:9685292
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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Mbp
myelin basic protein
ISO
RGD
PMID:1691612
RGD:1358488
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mcam
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mmp12
matrix metallopeptidase 12
susceptibility
ISO
DNA:SNP:promoter:-82A>G (human)
RGD
PMID:19628284
RGD:13204795
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mog
myelin oligodendrocyte glycoprotein
ISO
RGD
PMID:17142321
RGD:9685374
NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
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Mphosph9
M-phase phosphoprotein 9
susceptibility
ISO
DNA:snp:intron:122222678G>T rs1790100 (human)
RGD
PMID:19879194
RGD:2316985
NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
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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 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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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 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Nabp1
nucleic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:50,098,552...50,133,982
Ensembl chr 9:50,126,726...50,134,107
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
RGD
PMID:18682780
RGD:6482255
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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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 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Nedd9
neural precursor cell expressed, developmentally down-regulated 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:23,289,793...23,468,026
Ensembl chr17:23,282,326...23,468,019
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Nefh
neurofilament heavy chain
severity
ISO
RGD
PMID:16764346
RGD:27226808
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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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 chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Ngfr
nerve growth factor receptor
ISO
protein:increased expression:reactive astrocytes, microglia/macrophages (human)
RGD
PMID:11829348
RGD:5508481
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nono
non-POU domain containing, octamer-binding
ISO
mRNA:altered expression:peripheral blood mononuclear cell (human)
RGD
PMID:29100048
RGD:156420155
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch4
notch receptor 4
ISO
DNA: snps: cds: rs422951
RGD
PMID:21654846
RGD:6480692
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:27253448
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17728465
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
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Pdcd1
programmed cell death 1
ISO
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 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Phactr2
phosphatase and actin regulator 2
ISO
DNA: snp: : rs1015340
RGD
PMID:20546594
RGD:6483093
NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression:plasma
RGD
PMID:22246459
RGD:6482783
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pnmt
phenylethanolamine-N-methyltransferase
ISO
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
RGD
PMID:11958827
RGD:1358561
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
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Polg
DNA polymerase gamma, catalytic subunit
ISO
DNA:missense mutations:cds:
RGD
PMID:20837861
RGD:8694283
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2843795 PMID:9664777
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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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 chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:white matter,astrocyte:
RGD
PMID:19716418
RGD:10412736
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:20174631
RGD:6483446
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:15934099
RGD:6484550
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
DNA:snp:exon:c.77C>G (human)
RGD
PMID:11101853
RGD:1358566
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25853421
NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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Rgma
repulsive guidance molecule BMP co-receptor a
ISO
DNA:SNPs:intron: (rs997941, rs34925346) (human)
RGD
PMID:20072140
RGD:6892695
NCBI chr 1:127,128,934...127,172,918
Ensembl chr 1:127,128,934...127,172,918
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Rhoa
ras homolog family member A
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Rnf19a
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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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 1:26,015,728...26,108,736
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21741664
RGD:5147555
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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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 PMID:21440682 PMID:21664963 More...
RGD:5147555 , RGD:5147580 , RGD:5147573 , RGD:5147564 , RGD:5147559
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sele
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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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 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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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 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Spp1
secreted phosphoprotein 1
ISO
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum
RGD
PMID:11721059 PMID:15885319
RGD:1581329 , RGD:1581472
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Sys1
Sys1 golgi trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cerebrospinal fluid, mononuclear cell
RGD
PMID:18644848
RGD:2312575
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
DNA:SNP:intron: (rs1800693) (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 PMID:28492532 PMID:22801493 More...
RGD:8661741
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfsf14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216
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Tnfsf9
TNF superfamily member 9
ISO
protein:increased expression:plasma, monocyte (human)
RGD
PMID:16970683
RGD:2317352
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:18,222,024...18,242,163
Ensembl chr 3:18,222,054...18,241,807
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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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 PMID:21664963 More...
RGD:1331525 , RGD:11530654 , RGD:13210790 , RGD:11353119 , RGD:5147559
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vhl
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:119,017,280...119,035,885
Ensembl chr 2:119,017,285...119,031,900
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Aqp4
aquaporin 4
ISO
RGD
PMID:17468440
RGD:8698645
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
DNA:SNPs:intron: A>G, C>G (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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Bche
butyrylcholinesterase
ISO
RGD
PMID:20122907
RGD:5687690
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Cd274
CD274 molecule
severity
ISO
RGD
PMID:21494618
RGD:6893669
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Gc
GC, vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid:
RGD
PMID:20093204
RGD:5509869
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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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 chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:15732261
RGD:1626118
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il4r
interleukin 4 receptor
ISO
DNA:missense mutation:cds:p.Q551R (human)
RGD
PMID:11164908
RGD:1358313
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:14504963
RGD:13204808
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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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 PMID:28480171 PMID:28492532 PMID:32504279 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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RT1-Bb
RT1 class II, locus Bb
severity
ISO
DNA:polymorphism: :HLA-DQB1*0602 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:12926841
RGD:12801414
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624384
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
DNA:SNP:intron: C>T (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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Apoa4
apolipoprotein A4
onset
ISO
protein:decreased expression:cerebrospinal fluid (human)
RGD
PMID:19383442
RGD:5685649
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15096402 PMID:34624384
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Cd36
CD36 molecule
ISO
RGD
PMID:20855355
RGD:6893496
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd80
Cd80 molecule
ISO
protein:increased expression:blood, B cell
RGD
PMID:21310664
RGD:6893670
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:10976643
RGD:5686865
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Ctss
cathepsin S
ISO
mRNA, protein:increased expression:blood, leukocyte
RGD
PMID:21143385
RGD:5687146
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:intron:735T>C(human)
RGD
PMID:15218339
RGD:12903953
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Grn
granulin precursor
disease_progression
ISO
protein:increased expression:cerebrospinal fluids
RGD
PMID:21613335
RGD:5509591
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:15153541
RGD:5128853
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis
ClinVar
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:21824468
RGD:5688780
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Klc1
kinesin light chain 1
susceptibility
ISO
DNA:SNP:intron:56836G>C (rs8702) (human)
RGD
PMID:17999208
RGD:5684008
NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
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Mmp19
matrix metallopeptidase 19
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:11438176
RGD:1642025
NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
treatment
ISO
RGD
PMID:15222692
RGD:27226879
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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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 chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Nod2
nucleotide-binding oligomerization domain containing 2
disease_progression
ISO
DNA:SNPs: :rs3135499,rs2066842(human)
RGD
PMID:20595247
RGD:13204725
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nog
noggin
ISO
mRNA,protein:decreased expression:mononuclear cell"
RGD
PMID:21111488
RGD:12801480
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:12076997
RGD:5508822
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Serpine1
serpin family E member 1
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:10739162
RGD:13208510
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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