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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:autoimmune disease of central nervous system
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Accession:DOID:0060004 term browser browse the term
Definition:An autoimmune hypersensitivity disease located_in the central nervous system. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



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acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP
IEA
DNA:polymorphism (human)
DNA:polymorphism, haplotype: :
MouseDO
RGD
PMID:19722042 PMID:22786832 RGD:5147662, RGD:36049763 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 susceptibility IAGP
IEA
DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*1501 (human)
DNA:polymorphism, haplotype: :
MouseDO
RGD
PMID:19722042 PMID:15201511 PMID:22786832 RGD:5147662, RGD:40818409, RGD:36049763 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HLA-DRB5 major histocompatibility complex, class II, DR beta 5 susceptibility IAGP
IEA
DNA:polymorphism:cds:HLA-DRB5*0101 (human) MouseDO
RGD
PMID:15201511 RGD:40818409 NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287
JBrowse link
G IFNG interferon gamma disease_progression IEP protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G NEFL neurofilament light chain disease_progression IEP protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAG myelin associated glycoprotein ISO protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IEP RGD PMID:20680636 RGD:5148026 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP
EXP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G PLP1 proteolipid protein 1 IMP human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin treatment ISO RGD PMID:1710603 RGD:10046021 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:15878627 RGD:1559178 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr10:133,262,423...133,276,868
Ensembl chr10:133,262,420...133,276,868
JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
JBrowse link
G AKAP12 A-kinase anchoring protein 12 ISO mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 6:151,239,967...151,358,559
Ensembl chr 6:151,239,967...151,358,559
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr12:47,075,707...47,079,959
Ensembl chr12:47,075,707...47,079,959
JBrowse link
G ANXA1 annexin A1 ISO protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:28578430 RGD:13703134 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G AQP4 aquaporin 4 disease_progression
severity
ISO RGD PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138 RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:23212569 RGD:10059360 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G C3 complement C3 ISO protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C6 complement C6 severity ISO RGD PMID:11970970 RGD:625607 NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO 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 CALCA calcitonin related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,668...14,972,351
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP8 caspase 8 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CASP9 caspase 9 ISO protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAV3 caveolin 3 onset ISO Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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 ISO mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:spinal cord
mRNA:decreased expression:lymph node
mRNA:increased expression:optic chiasma (rat)
RGD PMID:17666800 PMID:19865101 PMID:11241588 RGD:2307114, RGD:4145472, RGD:8548888 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL3 C-C motif chemokine ligand 3 ISO mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:brain (mouse)
mRNA:increased expression:spinal cord
RGD PMID:15833367 PMID:17666800 RGD:4890027, RGD:2307114 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:14655765 PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 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 ISO mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:16061730 RGD:2307203 NCBI chr 2:203,706,465...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD4 CD4 molecule treatment ISO protein:decreased expression:T lymphocyte: RGD PMID:9138014 PMID:3097071 RGD:10058963, RGD:10058968 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:9379015 RGD:6902906 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CD86 CD86 molecule resistance
disease_progression
ISO protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557 PMID:20451260 RGD:4892227, RGD:4892207 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:15821736 RGD:1358146 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21107918 PMID:7541143 PMID:10650887 RGD:6483335, RGD:6483353, RGD:6483351 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
JBrowse link
G COMT catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:22768796 RGD:7243111 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO protein:increased expression:spinal cord RGD PMID:21679768 PMID:20162860 RGD:5686852, RGD:5686863 NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IMP RGD PMID:9379015 RGD:6902906 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CTSC cathepsin C ISO RGD PMID:843913 RGD:1599653 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G CTSS cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16053521 RGD:4891973 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:16053521 PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:21038468 RGD:5135506 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G DAB2 DAB adaptor protein 2 disease_progression ISO RGD PMID:21890121 RGD:7243155 NCBI chr 5:39,371,677...39,424,980
Ensembl chr 5:39,371,675...39,462,300
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DLL1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression ISO RGD PMID:19524108 RGD:9685491 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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 ESR2 estrogen receptor 2 ISO RGD PMID:21565615 PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FASLG Fas ligand treatment IMP RGD PMID:10944459 RGD:12903984 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 ISO RGD PMID:12576552 RGD:5508383 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:spinal cord RGD PMID:8929896 PMID:9814819 RGD:8655647, RGD:9831448 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment IDA RGD PMID:18721816 RGD:10402153 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FOXO3 forkhead box O3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
G GHRH growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19620309 RGD:12905041 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GJC2 gap junction protein gamma 2 ISO protein:decreased expression:white matter of spinal cord, gap junction (mouse) RGD PMID:22461072 RGD:13208593 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO mRNA:increased expression:spinal cord: RGD PMID:11823861 PMID:15913792 RGD:9686086, RGD:9686113 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO RGD PMID:18050272 PMID:9834080 PMID:16723470 RGD:5147622, RGD:5147666, RGD:5147639 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 ISO
IMP
RGD PMID:16723470 PMID:9834080 PMID:16194572 RGD:5147639, RGD:5147666, RGD:5147647 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 IMP RGD PMID:8676084 RGD:5490166 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 IMP RGD PMID:16194572 RGD:5147647 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17085013 PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G IFNG interferon gamma disease_progression
treatment
ISO RGD PMID:15661899 PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 treatment IDA human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23872438 RGD:7364993 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO RGD PMID:12620647 RGD:2316323 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
JBrowse link
G IL12A interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12B interleukin 12B ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL13 interleukin 13 severity ISO
IMP
RGD PMID:18250480 PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL16 interleukin 16 ISO RGD PMID:17641011 RGD:5024940 NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058
JBrowse link
G IL17A interleukin 17A treatment ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 PMID:16200068 PMID:20003332 PMID:16785554 RGD:4831840, RGD:9212317, RGD:4888522, RGD:4889113 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IDA human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL21 interleukin 21 ISO RGD PMID:18997868 RGD:5147399 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21R interleukin 21 receptor no_association
disease_progression
ISO RGD PMID:18546146 PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19269041 RGD:2311529 NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
JBrowse link
G IL27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:19269041 RGD:2311529 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL32 interleukin 32 ameliorates IMP human gene in a mouse model RGD PMID:26564962 RGD:150340739 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:18239607 PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment
susceptibility
ISO rat bone marrow cells in a mouse model RGD PMID:12626659 PMID:18722022 RGD:9698418, RGD:9698436 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G JAK3 Janus kinase 3 treatment ISO RGD PMID:25012120 RGD:11533939 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G LTA lymphotoxin alpha ISO mRNA:increased expression:spinal cord
mRNA:increased expression:brain
RGD PMID:7593556 PMID:9184655 RGD:1625038, RGD:4143220 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:15494405 RGD:1358431 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MBP myelin basic protein IDA
IMP
EXP
human sequence peptide in a rat model; associated with Herpesviridae infections
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 More... RGD:7349334, RGD:30296670 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
JBrowse link
G MDK midkine ISO RGD PMID:9814819 RGD:9831448 NCBI chr11:46,380,784...46,383,837
Ensembl chr11:46,380,756...46,383,837
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19922364 RGD:2325703 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9549496 RGD:8547909 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:multiple tissues RGD PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566 RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 3:39,467,680...39,529,497
Ensembl chr 3:39,467,198...39,529,479
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO
EXP
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 More... RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372
JBrowse link
G MT1E metallothionein 1E ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112
JBrowse link
G MT1X metallothionein 1X ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G MT2A metallothionein 2A ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MT3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NGF nerve growth factor ISO protein, mRNA:increased expression:thalamus and cortex, CNS (rat) RGD PMID:8866783 RGD:5508386 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor severity ISO mRNA:increased expression:central nervous system (rat) RGD PMID:16519950 PMID:8866783 RGD:5508312, RGD:5508386 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,640...156,881,850
JBrowse link
G OLIG1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr21:33,070,141...33,072,413
Ensembl chr21:33,070,141...33,072,413
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 treatment ISO RGD PMID:24941845 PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196
JBrowse link
G PDCD1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PDGFB platelet derived growth factor subunit B treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PLP1 proteolipid protein 1 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21068375 PMID:24941845 RGD:40902822 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage,
RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell
RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774
JBrowse link
G QKI QKI, KH domain containing RNA binding ISO RGD PMID:22740327 RGD:10045997 NCBI chr 6:163,414,718...163,578,592
Ensembl chr 6:163,414,000...163,578,592
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO RGD PMID:8557821 RGD:6771380 NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092
JBrowse link
G RHOA ras homolog family member A severity ISO 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 SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:15892298 PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:22436018 RGD:9999395 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
JBrowse link
G SNCB synuclein beta ISO RGD PMID:12496452 RGD:730073 NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 treatment IDA RGD PMID:20616573 RGD:11040805 NCBI chr12:120,461,672...120,469,748
Ensembl chr12:120,461,672...120,469,748
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:22066025 PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:11240014 RGD:7207888 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:spinal cord 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 treatment ISO RGD PMID:11421579 RGD:12904661 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:12196270 RGD:1580348 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 treatment ISO RGD PMID:21318047 PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP
mRNA,protein:decreased expression:spinal cord:
mRNA:decreased expression:Cerebrospinal Fluid:
RGD PMID:17083617 PMID:17083617 RGD:7421596, RGD:7421596 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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
multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin IAGP
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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 (Cartwright 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
IEA
DNA:polymorphism:cds:p.G82S rs2070600 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:repeats, haplotypes:multiple
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNPs, haplotype
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
IAGP
mRNA,protein:increased expression:brain
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:polymorphism:promoter
MouseDO
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
IEA
IEP
DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
protein:increased expression:blood, cerebrospinal fluid
MouseDO
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 3:46,364,660...46,407,059
Ensembl chr 3:46,364,391...46,407,117
JBrowse link
G CD24 CD24 molecule IAGP
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:SNP:promoter:-372G>A (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
RGD
PMID:14975605 RGD:1358478 NCBI chr 2:203,706,465...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 (Indian 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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:polymorphism:exon:c.1632G>C, rs4774
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:polymorphism:promoter:-168A>G
DNA:polymorphism:promoter:rs3087456, no association in a German cohort
MouseDO
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 6:25,061,626...25,452,263
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
IEA
IDA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
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
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNP:CDS:49A>G (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNPs: :rs3087243,rs11571302(human)
MouseDO
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 DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS 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 6:12,256,484...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
IEA
IAGP
protein:increased expression:white matter of brain:
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:polymorphism:promoter:-670A>G (human)
MouseDO
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
IEA
DNA:repeat::(CA)11-16 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:deletion: :
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:deletion: : (human)
DNA:deletion:: (human)
MouseDO
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
IEA
DNA:polymorphism:exon:
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:polymorphism:exon:p.I105V (rs1695) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:deletion:: (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
RGD
PMID:23932298 PMID:10680782 RGD:12792225, RGD:5490267
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP
IEA
DNA:SNP:exon: rs17368528 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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 6:33,075,990...33,089,696
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP
IEA
DNA:polymorphism (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*06 (human)
CTD
OMIM
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)
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)
OMIM
CTD
RGD
PMID:25911099 PMID:21741664 PMID:15201511 PMID:20207784 PMID:20580995 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
IEA
DNA:polymorphism:cds:HLA-DRB3*0202, *0301 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
RGD
PMID:15201511 RGD:40818409
G HSP90AB1 heat shock protein 90 alpha family class B member 1 IDA
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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 EXP CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 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
IEA
IEP
DNA:polymorphisms: :
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
MouseDO
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
IEA
DNA:repeat:intron 3:allele B1 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
IDA
DNA:polymorphism:promoter:-572 G>C(human)
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:polymorphism:promoter:-174G>C(human)
MouseDO
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:24759676 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
IEA
IAGP
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNPs: :rs3807306, rs4728142 (human)
MouseDO
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
IEA
IAGP
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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...160,070,160
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
IEA
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:SNP:promoter:-82A>G (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
IAGP
mRNA:increased expression:blood, mononuclear cell
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP, repeat:promoter:-1562C>T (human)
DNA:repeat, SNP:promoter
DNA:SNP:promoter:-1562C>T (human)
MouseDO
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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:snp:intron:122222678G>T rs1790100 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:transition:cds:m.9055A>G (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
MouseDO
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
IEA
DNA:point mutation: :m.8406C>T (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNP::m.4917A>G
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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 1:247,416,156...247,449,108
JBrowse link
G NOTCH4 notch receptor 4 IAGP
IEA
DNA: snps: cds: rs422951
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
CTD
OMIM
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
IEA
DNA: snp: : rs1015340
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:missense mutations:cds:
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
ISS
IAGP
IEP
OMIM:612594 | OMIM:612595 | OMIM:612596
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 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
IEA
OMIM:612594 | OMIM:612595 | OMIM:612596 MouseDO
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
IEA
DNA:snp:exon:c.77C>G (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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
IEA
DNA:SNPs:intron: (rs997941, rs34925346) (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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: DISSEMINATED SCLEROSIS 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
IEA
DNA:repeat:promoter:-341(GA)13-33 (human)
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:polymorphism:promoter
MouseDO
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
IEA
IDA
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum
OMIM:612594 | OMIM:612595 | OMIM:612596
MouseDO
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...191,246,175
Ensembl chr 2:191,029,576...191,151,596
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
IEA
DNA:synonymous mutation: :
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNPs:CDs:p.V379I, A565T(human)
MouseDO
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
IEA
ISS
IAGP
OMIM:612594 | OMIM:612595 | OMIM:612596
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
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
ClinVar
OMIM
CTD
RGD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25326637 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
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 disease_progression IDA
EXP
ISO
IAGP
CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD
RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 More... RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP
IEA
DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
MouseDO
RGD
PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 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 susceptibility IAGP
IEA
DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
MouseDO
RGD
PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL21 interleukin 21 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL32 interleukin 32 exacerbates 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 IL6 interleukin 6 severity IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MBP myelin basic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NEFH neurofilament heavy chain IEP protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G S100B S100 calcium binding protein B IEP RGD PMID:21371524 RGD:5508767 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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
IEA
DNA:SNPs:intron: A>G, C>G (human) MouseDO
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
IEA
IAGP
protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)
MouseDO
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
IEA
DNA:polymorphism: :HLA-DQB1*0602 (human) MouseDO
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
IEA
DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) MouseDO
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
IEA
DNA:missense mutation:cds:p.Q551R (human) MouseDO
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:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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
IEA
DNA:SNP:intron: C>T (human) MouseDO
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 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
IEA
MouseDO
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
IEA
DNA:polymorphism:intron:735T>C(human) MouseDO
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
IEA
DNA:SNP:intron:56836G>C (rs8702) (human) MouseDO
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
IEA
DNA:SNPs: :rs3135499,rs2066842(human) MouseDO
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
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 IAGP
IEA
OMIM:187360 MouseDO
RGD
PMID:15742444 RGD:1581162 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRH corticotropin releasing hormone no_association IAGP DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF2 colony stimulating factor 2 IEP RGD PMID:9844760 RGD:11059502 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IEP mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G ELN elastin IDA
IEA
OMIM:187360 MouseDO
RGD
PMID:9101501 RGD:9585754 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP
IEA
DNA:polymorphism: :p.H131R (human)
OMIM:187360
MouseDO
RGD
PMID:16846526 RGD:5147974 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 IAGP
IEA
DNA:polymorphism (human)
OMIM:187360
MouseDO
RGD
PMID:16846526 RGD:5147974 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 onset IAGP
IEA
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
OMIM:187360
DNA:polymorphism (human)
MouseDO
RGD
PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNG interferon gamma severity IAGP
IEA
DNA:repeats:intron:
OMIM:187360
MouseDO
RGD
PMID:15675129 RGD:8157621 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL17A interleukin 17A severity
susceptibility
IEP
IEA
IAGP
mRNA, protein:increased expression:temporal artery (human)
OMIM:187360
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
MouseDO
RGD
PMID:22993227 PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 no_association IAGP
IEA
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
OMIM:187360
DNA:SNP:promoter:-137G>C (rs187238) (human)
MouseDO
RGD
PMID:20331879 PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL21R interleukin 21 receptor IDA
IEA
OMIM:187360 MouseDO
RGD
PMID:22147555 RGD:6892962 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL4 interleukin 4 IAGP
IEA
DNA:SNP, haplotype: :rs2227284 (human)
OMIM:187360
MouseDO
RGD
PMID:15570643 RGD:7829811 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IEP mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G MBL2 mannose binding lectin 2 IAGP
IEA
DNA:polymorphism:cds:
OMIM:187360
MouseDO
RGD
PMID:12375325 RGD:8693752 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing IDA
IEA
OMIM:187360 MouseDO
RGD
PMID:11748647 RGD:1582497 NCBI chr15:88,898,683...88,913,379
Ensembl chr15:88,898,683...88,913,468
JBrowse link
G MMP2 matrix metallopeptidase 2 IDA
IEA
protein:increased activity:temporal artery
OMIM:187360
MouseDO
RGD
PMID:17502363 RGD:8657040 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association IEP
IEA
IDA
IAGP
protein:increased expression:temporal artery (human)
OMIM:187360
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
MouseDO
RGD
PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP
IEA
DNA:polymorphism: :p.R620W (rs2476601) (human)
OMIM:187360
DNA:polymorphism: :1858C>T (human)
MouseDO
RGD
PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
IAGP
IEA
DNA:polymorphism: :896A>G(rs4986790)(human)
OMIM:187360
DNA:polymorphism: :896A>G,1196C>T(human)
MouseDO
RGD
PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IDA
IEA
MouseDO
RGD
PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22089
    disease of anatomical entity 20653
      nervous system disease 16546
        autoimmune disease of the nervous system 519
          autoimmune disease of central nervous system 342
            Demyelinating Autoimmune Diseases, CNS + 335
            autoimmune epilepsy 0
            autoimmune neuropathy 0
            limbic encephalitis 0
            postinfectious encephalitis 0
            temporal arteritis 22
Path 2
Term Annotations click to browse term
  disease 22089
    disease of anatomical entity 20653
      Immune & Inflammatory Diseases 5417
        immune system disease 4759
          primary immunodeficiency disease 3999
            autoimmune disease 2263
              autoimmune disease of the nervous system 519
                autoimmune disease of central nervous system 342
                  Demyelinating Autoimmune Diseases, CNS + 335
                  autoimmune epilepsy 0
                  autoimmune neuropathy 0
                  limbic encephalitis 0
                  postinfectious encephalitis 0
                  temporal arteritis 22
paths to the root