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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 Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chrNW_004936757:1,642,122...1,646,499 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 chrNW_004936570:989,743...1,004,820 JBrowse link
G Zc3h12a zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chrNW_004936474:19,714,145...19,722,512 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 ISO RGD PMID:20680636 RGD:5148026 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
OMIM
ClinVar
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chrNW_004936829:261,017...333,910 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chrNW_004936657:3,443,406...3,453,096 JBrowse link
G Plp1 proteolipid protein 1 ISO human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chrNW_004936499:10,534,953...10,553,411 JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO RGD PMID:15878627 RGD:1559178 NCBI chrNW_004936532:5,864,851...5,904,005 JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chrNW_004936486:19,389,925...19,403,577 JBrowse link
G Aif1 allograft inflammatory factor 1 ISO protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chrNW_004936727:1,907,493...1,909,350 JBrowse link
G Akap12 A-kinase anchoring protein 12 ISO mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chrNW_004936489:4,237,466...4,258,408 JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chrNW_004936677:3,232,183...3,241,307 JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chrNW_004936512:5,157,076...5,160,251 JBrowse link
G Anxa1 annexin A1 ISO protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chrNW_004936503:9,124,314...9,142,372 JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:28578430 RGD:13703134 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Aqp4 aquaporin 4 disease_progression
severity
ISO RGD PMID:19660138 PMID:21056916 PMID:21157915 PMID:23707078 RGD:5148015 RGD:5490116 RGD:5490117 RGD:8696030 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G B2m beta-2-microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chrNW_004936471:7,646,504...7,655,656 JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chrNW_004936682:1,535,617...1,590,723 JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:23212569 RGD:10059360 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G C3 complement C3 ISO protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C6 complement C6 severity ISO RGD PMID:11970970 RGD:625607 NCBI chrNW_004936518:1,471,116...1,532,733 JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chrNW_004936669:133,488...308,623 JBrowse link
G Calca calcitonin related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chrNW_004936528:3,800,801...3,806,000 JBrowse link
G Casp3 caspase 3 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp8 caspase 8 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chrNW_004936726:554,627...596,334 JBrowse link
G Casp9 caspase 9 ISO protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Cav3 caveolin 3 onset ISO Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chrNW_004936602:4,264,896...4,278,160 JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chrNW_004936701:1,157,790...1,353,375 JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chrNW_004936538:781,687...784,199 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:2307114 RGD:4890027 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chrNW_004936596:223,660...224,739 JBrowse link
G Cd28 CD28 molecule ISO RGD PMID:16061730 RGD:2307203 NCBI chrNW_004936631:335,411...363,407 JBrowse link
G Cd4 CD4 molecule treatment ISO protein:decreased expression:T lymphocyte: RGD PMID:3097071 PMID:9138014 RGD:10058963 RGD:10058968 NCBI chrNW_004936709:997,776...1,022,791 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:9379015 RGD:6902906 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cd86 CD86 molecule resistance
disease_progression
ISO protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557 PMID:20451260 RGD:4892207 RGD:4892227 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO RGD PMID:15821736 RGD:1358146 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:7541143 PMID:10650887 PMID:21107918 RGD:6483335 RGD:6483351 RGD:6483353 NCBI chrNW_004936490:16,834,570...16,841,734 JBrowse link
G Comt catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chrNW_004936619:3,847,059...3,883,866 JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:22768796 RGD:7243111 NCBI chrNW_004936857:577,067...609,855 JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO protein:increased expression:spinal cord RGD PMID:20162860 PMID:21679768 RGD:5686852 RGD:5686863 NCBI chrNW_004936471:34,438,676...34,475,005 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Ctsc cathepsin C ISO RGD PMID:843913 RGD:1599653 NCBI chrNW_004936736:1,201,343...1,240,311 JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chrNW_004936580:963,176...991,732 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16053521 RGD:4891973 NCBI chrNW_004936475:9,443,851...9,454,715 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:16053521 PMID:24706865 RGD:4891973 RGD:9491767 NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:21038468 RGD:5135506 NCBI chrNW_004936762:66,636...69,694 JBrowse link
G Dab2 DAB adaptor protein 2 disease_progression ISO RGD PMID:21890121 RGD:7243155 NCBI chrNW_004936518:2,915,819...2,936,474 JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chrNW_004936604:4,504,519...4,511,897 JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chrNW_004937098:212,704...220,589 JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chrNW_004936650:679,650...718,867 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chrNW_004936541:4,613,197...4,705,911 JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21182085 PMID:21565615 RGD:5508732 RGD:5508735 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chrNW_004936564:4,788,036...4,907,600 JBrowse link
G Ghrh growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chrNW_004936561:3,946,256...3,954,472 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19620309 RGD:12905041 NCBI chrNW_004936602:3,037,862...3,044,863 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 chrNW_004936864:67,608...71,543 JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chrNW_004936646:1,622,308...1,629,787 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chrNW_004936601:5,415,857...5,435,964 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 chrNW_004936515:6,001,324...6,015,407 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:14691063 PMID:17085013 RGD:5508469 RGD:5508476 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Ifng interferon gamma treatment
disease_progression
ISO RGD PMID:15661899 PMID:22896638 RGD:10755692 RGD:7987912 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23872438 RGD:7364993 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO RGD PMID:12620647 RGD:2316323 NCBI chrNW_004936542:3,099,484...3,113,159 JBrowse link
G Il12a interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chrNW_004936519:6,166,060...6,180,652 JBrowse link
G Il12b interleukin 12B ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chrNW_004936515:4,056,214...4,066,121 JBrowse link
G Il13 interleukin 13 severity ISO RGD PMID:7523520 PMID:18250480 RGD:5684366 RGD:5684367 NCBI chrNW_004936647:2,529,933...2,532,503 JBrowse link
G Il16 interleukin 16 ISO RGD PMID:17641011 RGD:5024940 NCBI chrNW_004936483:19,417,580...19,512,654 JBrowse link
G Il17a interleukin 17A treatment ISO mRNA, protein:increased expression:lymph node RGD PMID:16200068 PMID:16785554 PMID:19233473 PMID:20003332 RGD:4831840 RGD:4888522 RGD:4889113 RGD:9212317 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il18 interleukin 18 ISO mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889542 RGD:4889543 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chrNW_004936713:1,038,985...1,075,770 JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il21 interleukin 21 ISO RGD PMID:18997868 RGD:5147399 NCBI chrNW_004936662:1,689,879...1,696,883 JBrowse link
G Il21r interleukin 21 receptor disease_progression
no_association
ISO RGD PMID:18353312 PMID:18546146 RGD:6892939 RGD:6892940 NCBI chrNW_004936501:11,100,170...11,112,112 JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19269041 RGD:2311529 NCBI chrNW_004936545:6,227,118...6,231,745 JBrowse link
G Il27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chrNW_004936501:11,972,715...11,978,152 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:19269041 RGD:2311529 NCBI chrNW_004936484:8,514,333...8,555,392 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:12791289 RGD:2307412 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Itga4 integrin subunit alpha 4 susceptibility
treatment
ISO rat bone marrow cells in a mouse model RGD PMID:12626659 PMID:18722022 RGD:9698418 RGD:9698436 NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chrNW_004936503:111,722...243,627 JBrowse link
G Jak3 Janus kinase 3 treatment ISO RGD PMID:25012120 RGD:11533939 NCBI chrNW_004936596:3,212,593...3,224,426 JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chrNW_004936482:17,162,854...17,238,319 JBrowse link
G LOC101959212 alpha-2-macroglobulin treatment ISO RGD PMID:1710603 RGD:10046021 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G LOC101960095 antileukoproteinase treatment ISO RGD PMID:22436018 RGD:9999395 NCBI chrNW_004936514:7,618,382...7,620,790 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:14512166 PMID:14655765 RGD:5688165 RGD:5688167 NCBI chrNW_004936596:177,774...183,186 JBrowse link
G LOC101968920 eotaxin ISO mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chrNW_004936538:835,436...848,907 JBrowse link
G LOC101969065 mamu class II histocompatibility antigen, DR alpha chain ISO RGD PMID:8676084 RGD:5490166 NCBI chrNW_004936727:540,225...544,968 JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chrNW_004936646:1,326,900...1,407,236 JBrowse link
G Lta lymphotoxin alpha ISO mRNA:increased expression:brain
mRNA:increased expression:spinal cord
RGD PMID:7593556 PMID:9184655 RGD:1625038 RGD:4143220 NCBI chrNW_004936727:1,940,081...1,941,022 JBrowse link
G Mapt microtubule associated protein tau treatment ISO RGD PMID:15494405 RGD:1358431 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism
human sequence peptide in a rat model; associated with Herpesviridae infections
CTD
RGD
PMID:11501064 PMID:12811845 PMID:15159442 PMID:16285900 PMID:17884951 More... RGD:30296670 RGD:7349334 NCBI chrNW_004936616:2,082,154...2,159,028 JBrowse link
G Mdk midkine ISO RGD PMID:9814819 RGD:9831448 NCBI chrNW_004936562:2,687,825...2,690,292 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19922364 RGD:2325703 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:9549496 RGD:8547909 NCBI chrNW_004936551:5,388,456...5,395,071 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:multiple tissues RGD PMID:9549496 PMID:20810258 PMID:22800566 PMID:24797785 RGD:13204762 RGD:13204801 RGD:8547909 RGD:8547936 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mobp myelin associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chrNW_004936473:28,663,986...28,709,394 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10384097 PMID:12799014 PMID:12904460 PMID:14624757 PMID:16931536 More... RGD:9685372 RGD:9685373 RGD:9685375 NCBI chrNW_004936723:1,070,071...1,112,487 JBrowse link
G Mt3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chrNW_004936612:1,262,557...1,556,281 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Ngf nerve growth factor ISO protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Ngfr nerve growth factor receptor severity ISO mRNA:increased expression:central nervous system RGD PMID:8866783 PMID:16519950 RGD:5508312 RGD:5508386 NCBI chrNW_004936490:12,038,500...12,057,257 JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chrNW_004936889:223,137...229,968 JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chrNW_004936504:10,960,069...11,056,834 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chrNW_004936580:6,002,168...6,021,690 JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chrNW_004936500:9,208,932...9,211,182 JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO RGD PMID:24941845 PMID:29682587 RGD:40902822 RGD:40902863 NCBI chrNW_004936500:9,244,595...9,247,756 JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chrNW_004936745:152,571...163,712 JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chrNW_004936492:2,353,840...2,368,573 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chrNW_004936482:16,804,129...16,853,539 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chrNW_004936479:17,084,006...17,112,264 JBrowse link
G Plp1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21068375 PMID:24941845 RGD:40902822 NCBI chrNW_004936499:10,534,953...10,553,411 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Prf1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chrNW_004936521:8,057,874...8,060,695 JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chrNW_004936518:1,817,051...1,843,376 JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage,
protein:increased expression:cerebral cortex, cerebellum, spinal cord
RGD PMID:10229132 PMID:21667309 RGD:5688149 RGD:5688250 NCBI chrNW_004936487:10,745,465...10,758,812 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell
RGD PMID:10229132 PMID:21667309 RGD:5688149 RGD:5688250 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptn pleiotrophin ISO mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chrNW_004936592:1,706,979...1,806,345 JBrowse link
G Qki QKI, KH domain containing RNA binding ISO RGD PMID:22740327 RGD:10045997 NCBI chrNW_004936489:13,901,066...14,000,652 JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO RGD PMID:8557821 RGD:6771380 NCBI chrNW_004936595:1,513,855...1,515,300 JBrowse link
G Rhoa ras homolog family member A severity ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chrNW_004936529:1,000,050...1,045,655 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 chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:15892298 PMID:18991353 RGD:12801423 RGD:12801440 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chrNW_004936524:2,717,885...2,720,874 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sncb synuclein beta ISO RGD PMID:12496452 RGD:730073 NCBI chrNW_004936597:878,270...888,346 JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chrNW_004936668:484,922...491,576 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chrNW_004936506:7,196,860...7,235,854 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:17878325 PMID:22066025 RGD:6483041 RGD:6892946 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:11240014 RGD:7207888 NCBI chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chrNW_004936628:310,720...394,002 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chrNW_004936492:6,996,627...7,046,137 JBrowse link
G Tlr2 toll like receptor 2 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr4 toll like receptor 4 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:11421579 RGD:12904661 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:12196270 RGD:1580348 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vdr vitamin D receptor treatment ISO RGD PMID:21287548 PMID:21318047 RGD:13210791 RGD:8158064 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:decreased expression:Cerebrospinal Fluid:
mRNA,protein:decreased expression:spinal cord:
RGD PMID:12387457 PMID:17083617 RGD:634258 RGD:7421596 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chrNW_004936489:5,425,778...5,434,483 JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chrNW_004936657:2,891,171...2,895,409 JBrowse link
multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chrNW_004936483:14,811,152...14,846,305 JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004936543:856,678...862,080 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Ager advanced glycosylation end-product specific receptor susceptibility ISO DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936740:1,447,869...1,460,836 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chrNW_004936514:4,719,198...4,736,638 JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chrNW_004936682:1,535,617...1,590,723 JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bdnf brain derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chrNW_004936669:133,488...308,623 JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chrNW_004936701:1,157,790...1,353,375 JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chrNW_004936538:781,687...784,199 JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chrNW_004936596:223,660...224,739 JBrowse link
G Cd28 CD28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chrNW_004936631:335,411...363,407 JBrowse link
G Cd40 CD40 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
CTD
RGD
PMID:19525955 PMID:20190274 PMID:20634952 RGD:5490971 RGD:5490975 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cd6 CD6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chrNW_004936581:1,932,596...1,943,671 JBrowse link
G Cd86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936834:432,538...522,118 JBrowse link
G Cdk17 cyclin dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936507:12,317,746...12,409,506 JBrowse link
G Ciita class II major histocompatibility complex transactivator susceptibility
no_association
ISO DNA:polymorphism:exon:c.1632G>C, rs4774
DNA:polymorphism:promoter:-168A>G
DNA:polymorphism:promoter:rs3087456, no association in a German cohort
RGD PMID:15821736 PMID:16426246 PMID:21653641 RGD:1358146 RGD:5491175 RGD:5491189 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chrNW_004936593:2,072,368...2,087,820 JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:g.194570G>A, rs7184083
CTD
RGD
PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chrNW_004936530:9,089,478...9,264,563 JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chrNW_004936532:3,896,654...3,908,184 JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:18676363 PMID:19473295 RGD:6483339 RGD:6483346 NCBI chrNW_004936490:16,834,570...16,841,734 JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chrNW_004936510:3,779,930...3,806,615 JBrowse link
G Cntf ciliary neurotrophic factor onset ISO DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein RGD PMID:11890844 RGD:1626112 NCBI chrNW_004936581:3,710,171...3,715,753 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 no_association ISO DNA:SNPs: :rs3087243,rs11571302(human)
DNA:SNP:CDS:49A>G (human)
RGD PMID:10082437 PMID:17942509 PMID:19740340 RGD:1358538 RGD:2301975 RGD:7411672 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chrNW_004936471:37,135,200...37,156,081 JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chrNW_004936680:3,047,355...3,050,640 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:16,557,381...16,640,519 JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936745:1,063,365...1,064,590 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chrNW_004936541:4,613,197...4,705,911 JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter:-670A>G (human)
protein:increased expression:white matter of brain:
RGD PMID:8879222 PMID:12098516 RGD:12903947 RGD:12903986 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11438180 PMID:31068361 RGD:1358622 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 ISO DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chrNW_004936714:461,050...675,745 JBrowse link
G Gc GC vitamin D binding protein no_association
susceptibility
ISO protein:decreased expression:cerebrospinal fluid
DNA:SNPs:exon:p.T420K, D416E(human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
RGD
CTD
PMID:12044990 PMID:12137326 PMID:18807170 PMID:19324981 PMID:25590278 RGD:5509885 RGD:5509887 RGD:5509922 RGD:5509923 NCBI chrNW_004936598:3,220,029...3,256,091 JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chrNW_004936646:1,622,308...1,629,787 JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chrNW_004936479:13,768,014...14,504,387 JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chrNW_004936541:793,548...800,271 JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chrNW_004936704:1,233,909...1,236,864 JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chrNW_004936623:3,359,624...3,376,598 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chrNW_004936474:15,320,635...15,351,418 JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chrNW_004936476:15,830,459...15,836,994 JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chrNW_004936542:7,577,192...7,581,598 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chrNW_004936652:2,736,270...2,736,833 JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9818947 PMID:23517930 RGD:1358738 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Igf2 insulin like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chrNW_004936519:6,166,060...6,180,652 JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum
protein:increased expression:cerebrospinal fluid
RGD PMID:21677024 PMID:22031307 RGD:5684368 RGD:8549589 NCBI chrNW_004936647:2,529,933...2,532,503 JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21455110 PMID:23517930 RGD:8698672 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:10025794 PMID:15210533 PMID:25458313 RGD:1358741 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695 RGD:6892963 NCBI chrNW_004936501:11,100,170...11,112,112 JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
RGD PMID:18368064 PMID:24547735 RGD:8549631 RGD:8549632 NCBI chrNW_004936591:4,365,598...4,425,053 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17660530 PMID:19119414 PMID:19125193 PMID:19525955 PMID:24076602 RGD:2311526 NCBI chrNW_004936484:8,514,333...8,555,392 JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chrNW_004936501:11,025,590...11,058,807 JBrowse link
G Il6 interleukin 6 treatment
severity
ISO DNA:polymorphism:promoter:-174G>C(human)
DNA:polymorphism:promoter:-572 G>C(human)
RGD PMID:23202972 PMID:24155968 PMID:26285213 RGD:11079567 RGD:12791288 RGD:12792202 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chrNW_004936702:110,625...162,957 JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 ClinVar PMID:24759676 PMID:25046553 PMID:25741868 PMID:27577878 PMID:28436970 More... NCBI chrNW_004936518:5,815,820...5,842,571 JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:20861862 PMID:25392335 RGD:11055911 RGD:40924643 NCBI chrNW_004936579:6,138,372...6,149,531 JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chrNW_004936641:2,608,109...2,622,446 JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:16934875 PMID:20805994 RGD:6482233 RGD:6482240 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936552:1,566,382...1,786,837 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chrNW_004936740:555,948...589,219 JBrowse link
G Kif1b kinesin family member 1B susceptibility
no_association
ISO DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18997785 PMID:20502484 RGD:12738462 RGD:12738463 NCBI chrNW_004936623:4,091,093...4,222,510 JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chrNW_004936646:1,697,531...1,730,376 JBrowse link
G Klhl6 kelch like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936578:6,226,533...6,284,343 JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chrNW_004936889:621,645...628,454 JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101959212 alpha-2-macroglobulin ISO RGD PMID:11498265 RGD:1549857 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :HLA-DPB1*0501 (human)
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human)
CTD
RGD
PMID:17125797 PMID:17956852 PMID:32560041 RGD:150429801 RGD:150429806 NCBI chrNW_004936476:25,730,800...25,741,089 JBrowse link
G LOC101964975 interleukin-8 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G LOC101968601 signal transducer CD24 ISO RGD PMID:14657362 RGD:1358462 NCBI chrNW_004936491:16,706,745...16,707,010 JBrowse link
G LOC101969065 mamu class II histocompatibility antigen, DR alpha chain ISO DNA:polymorphism:promoter (human)
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10527398 PMID:17660530 PMID:19834503 RGD:5490159 RGD:5490202 RGD:5490204 NCBI chrNW_004936727:540,225...544,968 JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936537:9,050,495...9,124,649 JBrowse link
G Mag myelin associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chrNW_004936570:989,743...1,004,820 JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chrNW_004936616:2,082,154...2,159,028 JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chrNW_004936542:4,235,914...4,244,981 JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chrNW_004936551:5,107,567...5,117,843 JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association
susceptibility
ISO DNA:repeat, SNP:promoter
mRNA:increased expression:blood, mononuclear cell
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP, repeat:promoter:-1562C>T (human)
RGD PMID:10713364 PMID:19628284 PMID:20471697 PMID:23401127 RGD:13204754 RGD:13204795 RGD:13204826 RGD:13204848 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chrNW_004936723:1,070,071...1,112,487 JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chrNW_004936558:1,483,112...1,536,804 JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936506:6,608,333...6,616,076 JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chrNW_004936903:503,633...514,235 JBrowse link
G Nectin2 nectin cell adhesion molecule 2 no_association
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)
CTD
RGD
PMID:16738668 PMID:17376543 RGD:6767558 RGD:6767565 NCBI chrNW_004936706:1,470,910...1,498,986 JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936534:1,816,755...1,863,200 JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chrNW_004936657:3,443,406...3,453,096 JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expression:serum (human)
protein:increased expresssion:serum (human)
RGD PMID:31383792 PMID:33317883 RGD:127284875 RGD:127285024 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages RGD PMID:11829348 RGD:5508481 NCBI chrNW_004936490:12,038,500...12,057,257 JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chrNW_004936864:709,693...732,119 JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chrNW_004936562:1,937,665...1,946,680 JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chrNW_004936558:3,106,819...3,149,689 JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression OMIM
ClinVar
PMID:12402038 PMID:15912506 NCBI chrNW_004936745:152,571...163,712 JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chrNW_004936625:2,336,455...2,474,032 JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chrNW_004936476:13,609,847...13,646,174 JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chrNW_004936490:14,858,682...14,861,614 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Prf1 perforin 1 ISO protein:increased expression:blood, T cell
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
RGD PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805 RGD:6482817 RGD:6482820 NCBI chrNW_004936521:8,057,874...8,060,695 JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chrNW_004936489:12,118,538...12,913,664 JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936485:14,104,829...14,118,614 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chrNW_004936476:25,894,313...25,899,132 JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chrNW_004936690:2,180,804...2,232,869 JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chrNW_004936567:5,266,653...5,378,464 JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chrNW_004936477:3,354,336...3,445,248 JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chrNW_004936483:9,753,112...9,792,817 JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chrNW_004936529:1,000,050...1,045,655 JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936470:42,965,790...43,007,487 JBrowse link
G Rnf217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chrNW_004936639:4,295,293...4,325,468 JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chrNW_004936481:16,915,203...16,921,840 JBrowse link
G Sh2d2a SH2 domain containing 2A susceptibility ISO DNA:repeat:promoter:-341(GA)13-33 (human)
DNA:polymorphism:promoter
RGD PMID:11528519 PMID:18554728 RGD:1358573 RGD:2298871 NCBI chrNW_004936580:5,959,971...5,967,250 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Slc11a1 solute carrier family 11 member 1 no_association ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
RGD
CTD
PMID:15584484 PMID:16597321 PMID:18973068 RGD:5684937 RGD:5684960 NCBI chrNW_004936569:888,309...895,991 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:11721059 PMID:15885319 RGD:1581329 RGD:1581472 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Sys1 SYS1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936514:7,518,048...7,529,024 JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
ISO DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human)
RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279 RGD:6482280 RGD:6482281 NCBI chrNW_004936476:25,913,699...25,923,419 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:8887999 PMID:8964914 PMID:9270614 RGD:12904068 RGD:12904657 RGD:7401237 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chrNW_004936560:5,124,955...5,138,988 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 OMIM
ClinVar
PMID:22801493 PMID:24033266 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chrNW_004936588:3,976,492...3,979,825 JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chrNW_004936588:3,844,924...3,847,218 JBrowse link
G Traf1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936487:9,349,883...9,368,946 JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chrNW_004936659:681,463...704,484 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vdr vitamin D receptor no_association
susceptibility
ISO DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21664963 PMID:25685788 PMID:25853421 PMID:26540116 PMID:27049563 RGD:11353119 RGD:11530654 RGD:13210790 RGD:5147559 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chrNW_004936657:2,891,171...2,895,409 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 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-1003A>G(human)
associated withHiccup;
RGD
CTD
PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 More... RGD:5148024 RGD:5148032 RGD:8695993 RGD:8696026 RGD:8696032 RGD:8696033 RGD:8696034 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chrNW_004936533:4,242,589...4,263,136 JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004936541:1,265,915...1,275,232 JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chrNW_004936662:1,689,879...1,696,883 JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004936616:2,082,154...2,159,028 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chrNW_004936657:3,443,406...3,453,096 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
Opticospinal Multiple Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:17468440 RGD:8698645 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chrNW_004936521:7,951,176...8,025,666 JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chrNW_004936539:132,870...145,288 JBrowse link
G Gc GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chrNW_004936598:3,220,029...3,256,091 JBrowse link
G Grn granulin precursor susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)
RGD PMID:20463744 PMID:21613335 RGD:5509591 RGD:5509596 NCBI chrNW_004936541:793,548...800,271 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chrNW_004936512:11,481,017...11,487,737 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chrNW_004936501:11,025,590...11,058,807 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chrNW_004936525:1,559,575...1,570,679 JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chrNW_004936521:7,951,176...8,025,666 JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chrNW_004936810:791,823...838,303 JBrowse link
G Cd80 CD80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chrNW_004936471:34,438,676...34,475,005 JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chrNW_004936580:963,176...991,732 JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chrNW_004936541:793,548...800,271 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chrNW_004936515:6,030,402...6,051,161 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chrNW_004936512:11,481,017...11,487,737 JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chrNW_004936542:7,577,192...7,581,598 JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chrNW_004936621:1,471,574...1,505,119 JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chrNW_004936646:298,854...304,479 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chrNW_004936657:3,443,406...3,453,096 JBrowse link
G Nefl neurofilament light chain ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)
RGD PMID:30761586 PMID:33658322 RGD:127285025 RGD:127285027 NCBI chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chrNW_004936475:3,708,069...3,742,845 JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chrNW_004936567:1,411,080...1,418,332 JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chrNW_004936647:3,081,896...3,083,864 JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chrNW_004937098:212,704...220,589 JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Il17a interleukin 17A susceptibility
severity
ISO DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
mRNA, protein:increased expression:temporal artery (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666 RGD:9068454 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:20331879 RGD:8655865 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chrNW_004936501:11,100,170...11,112,112 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chrNW_004936483:14,868,171...14,880,552 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
protein:increased activity:temporal artery
protein:increased expression:serum
DNA:SNP:CDS:rs2250889 (human)
RGD PMID:8843867 PMID:15998676 PMID:17502363 PMID:18512818 RGD:1580575 RGD:8547826 RGD:8547902 RGD:8657040 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:16078327 PMID:23946333 RGD:7829739 RGD:7829744 NCBI chrNW_004936690:2,180,804...2,232,869 JBrowse link
G Tlr4 toll like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158 RGD:7777159 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203 PMID:23999580 RGD:5148008 RGD:8696028 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chrNW_004936573:6,306,218...6,343,544 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13721
    disease of anatomical entity 13453
      nervous system disease 11446
        autoimmune disease of the nervous system 427
          autoimmune disease of central nervous system 271
            Demyelinating Autoimmune Diseases, CNS + 265
            autoimmune epilepsy 0
            autoimmune neuropathy 0
            limbic encephalitis 0
            postinfectious encephalitis 0
            temporal arteritis 18
Path 2
Term Annotations click to browse term
  disease 13721
    disease of anatomical entity 13453
      Immune & Inflammatory Diseases 4301
        immune system disease 3793
          primary immunodeficiency disease 3219
            autoimmune disease 1830
              autoimmune disease of the nervous system 427
                autoimmune disease of central nervous system 271
                  Demyelinating Autoimmune Diseases, CNS + 265
                  autoimmune epilepsy 0
                  autoimmune neuropathy 0
                  limbic encephalitis 0
                  postinfectious encephalitis 0
                  temporal arteritis 18
paths to the root