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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-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*1501 (human)
DNA:polymorphism, haplotype: :
RGD PMID:15201511 PMID:19722042 PMID:22786832 RGD:36049763 RGD:40818409 RGD:5147662 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IFNG interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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 chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
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 chr 9:39,008,187...39,009,932 JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
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 chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731
JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr28:40,853,665...40,865,604
Ensembl chr28:40,855,509...40,863,747
JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177
JBrowse link
G AKAP12 A-kinase anchoring protein 12 ISO mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr27:7,507,426...7,510,015
Ensembl chr27:7,507,489...7,509,054
JBrowse link
G ANXA1 annexin A1 ISO protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:28578430 RGD:13703134 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360
JBrowse link
G B9D2 B9 domain containing 2 ISO mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:23212569 RGD:10059360 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G C3 complement C3 ISO protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G C6 complement C6 severity ISO RGD PMID:11970970 RGD:625607 NCBI chr 4:68,223,626...68,318,773
Ensembl chr 4:68,253,255...68,318,252
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 9:47,813,625...48,009,532
Ensembl chr 9:47,816,393...48,009,406
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP8 caspase 8 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CASP9 caspase 9 ISO protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CAV3 caveolin 3 onset ISO Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
JBrowse link
G CBLB Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr33:11,255,453...11,665,755
Ensembl chr33:11,199,863...11,530,810
JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187
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:11241588 PMID:17666800 PMID:19865101 RGD:2307114 RGD:4145472 RGD:8548888 NCBI chr 9:39,008,187...39,009,932 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 chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:14512166 PMID:14655765 RGD:5688165 RGD:5688167 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:16061730 RGD:2307203 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CD4 CD4 molecule treatment ISO protein:decreased expression:T lymphocyte: RGD PMID:3097071 PMID:9138014 RGD:10058963 RGD:10058968 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:9379015 RGD:6902906 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CD86 CD86 molecule disease_progression
resistance
ISO protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557 PMID:20451260 RGD:4892207 RGD:4892227 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:15821736 RGD:1358146 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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 chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079
JBrowse link
G COMT catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:22768796 RGD:7243111 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO protein:increased expression:spinal cord RGD PMID:20162860 PMID:21679768 RGD:5686852 RGD:5686863 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CTSC cathepsin C ISO RGD PMID:843913 RGD:1599653 NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
JBrowse link
G CTSS cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16053521 RGD:4891973 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:16053521 PMID:24706865 RGD:4891973 RGD:9491767 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:21038468 RGD:5135506 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G DAB2 DAB adaptor protein 2 disease_progression ISO RGD PMID:21890121 RGD:7243155 NCBI chr 4:69,625,874...69,648,349
Ensembl chr 4:69,625,527...69,648,321
JBrowse link
G DLA-DRA MHC class II DR alpha chain ISO RGD PMID:8676084 RGD:5490166 NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761
JBrowse link
G DLL1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr12:72,265,078...72,272,347
Ensembl chr12:72,265,682...72,272,348
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression ISO RGD PMID:19524108 RGD:9685491 NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 9:11,930,614...12,006,724
Ensembl chr 9:11,934,965...12,006,814
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21182085 PMID:21565615 RGD:5508732 RGD:5508735 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:spinal cord RGD PMID:8929896 PMID:9814819 RGD:8655647 RGD:9831448 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198
JBrowse link
G GHRH growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19620309 RGD:12905041 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
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 chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr 4:34,629,046...34,662,711 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 4:53,018,990...53,032,035
Ensembl chr 4:53,012,234...53,033,393
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO RGD PMID:16194572 RGD:5147647 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:14691063 PMID:17085013 RGD:5508469 RGD:5508476 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G IFNG interferon gamma treatment
disease_progression
ISO RGD PMID:15661899 PMID:22896638 RGD:10755692 RGD:7987912 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23872438 RGD:7364993 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO RGD PMID:12620647 RGD:2316323 NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163
JBrowse link
G IL12A interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
JBrowse link
G IL12B interleukin 12B ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL13 interleukin 13 severity ISO RGD PMID:7523520 PMID:18250480 RGD:5684366 RGD:5684367 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL16 interleukin 16 ISO RGD PMID:17641011 RGD:5024940 NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104
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 chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 ISO mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889542 RGD:4889543 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL21 interleukin 21 ISO RGD PMID:18997868 RGD:5147399 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL21R interleukin 21 receptor disease_progression
no_association
ISO RGD PMID:18353312 PMID:18546146 RGD:6892939 RGD:6892940 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19269041 RGD:2311529 NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371
JBrowse link
G IL27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:19269041 RGD:2311529 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
G IL32 interleukin 32 ameliorates ISO human gene in a mouse model RGD PMID:26564962 RGD:150340739 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:1383385 PMID:18239607 RGD:7829778 RGD:8142395 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:12791289 RGD:2307412 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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 chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G JAK3 Janus kinase 3 treatment ISO RGD PMID:25012120 RGD:11533939 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G LOC100686073 metallothionein-1 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132
JBrowse link
G LOC477699 alpha-2-macroglobulin treatment ISO RGD PMID:1710603 RGD:10046021 NCBI chr27:36,654,328...36,695,775 JBrowse link
G LOC491316 midkine ISO RGD PMID:9814819 RGD:9831448 NCBI chr 9:55,100,491...55,101,081 JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
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 chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:15494405 RGD:1358431 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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 chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19922364 RGD:2325703 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9549496 RGD:8547909 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972
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 chr35:26,256,311...26,267,357
Ensembl chr35:26,256,489...26,266,832
JBrowse link
G MT-III transcription initiation factor TFIID subunit 4 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 2:59,624,845...59,630,386 JBrowse link
G MT2A metallothionein 1H ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NGF nerve growth factor ISO protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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 chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr 1:106,332,691...106,339,168
Ensembl chr 1:106,332,798...106,339,135
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G OLIG1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr31:27,718,925...27,721,301
Ensembl chr31:27,719,026...27,719,862
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 treatment ISO RGD PMID:24941845 PMID:29682587 RGD:40902822 RGD:40902863 NCBI chr31:27,674,112...27,677,521
Ensembl chr31:27,674,107...27,676,822
JBrowse link
G PDCD1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PDGFB platelet derived growth factor subunit B treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
JBrowse link
G PLP1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21068375 PMID:24941845 RGD:40902822 NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage,
RGD PMID:10229132 PMID:21667309 RGD:5688149 RGD:5688250 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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 chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814
JBrowse link
G QKI QKI, KH domain containing RNA binding ISO RGD PMID:22740327 RGD:10045997 NCBI chr 1:51,800,294...51,956,891
Ensembl chr 1:51,800,309...51,952,714
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO RGD PMID:8557821 RGD:6771380 NCBI chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812
JBrowse link
G RHOA ras homolog family member A severity ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:15892298 PMID:18991353 RGD:12801423 RGD:12801440 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:22436018 RGD:9999395 NCBI chr24:32,566,030...32,568,406
Ensembl chr24:32,566,026...32,568,420
JBrowse link
G SNCB synuclein beta ISO RGD PMID:12496452 RGD:730073 NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr26:16,363,275...16,369,699
Ensembl chr26:16,363,475...16,369,666
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:17878325 PMID:22066025 RGD:6483041 RGD:6892946 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:11240014 RGD:7207888 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:11421579 RGD:12904661 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:12196270 RGD:1580348 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VDR vitamin D receptor treatment ISO RGD PMID:21287548 PMID:21318047 RGD:13210791 RGD:8158064 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr26:22,162,675...22,168,149
Ensembl chr26:22,163,222...22,168,105
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 chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544
JBrowse link
G ACHE acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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 chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOC2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G B4GALT5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr24:36,220,973...36,241,482
Ensembl chr24:36,221,189...36,300,804
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BCL2L2 BCL2 like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070
JBrowse link
G BDNF brain derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 9:47,813,625...48,009,532
Ensembl chr 9:47,816,393...48,009,406
JBrowse link
G CAV1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CBLB Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr33:11,255,453...11,665,755
Ensembl chr33:11,199,863...11,530,810
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 chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187
JBrowse link
G CCL13 chemokine (C-C motif) ligand 13 ISO DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr 9:38,938,944...38,940,231
Ensembl chr 9:38,938,135...38,940,231
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:brain
DNA:polymorphism:promoter
RGD PMID:9655469 PMID:12127674 RGD:6483814 RGD:6483818 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression ClinVar PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr12:64,239,957...64,245,114 JBrowse link
G CD28 CD28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19525955 PMID:20190274 PMID:20634952 RGD:5490971 RGD:5490975 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CD58 CD58 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 PMID:24076602 NCBI chr17:53,969,207...53,997,306
Ensembl chr17:53,973,029...53,995,672
JBrowse link
G CD6 CD6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr18:55,296,116...55,336,014
Ensembl chr18:55,296,986...55,335,880
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 chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CD96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr33:16,231,244...16,327,670
Ensembl chr33:16,231,994...16,325,572
JBrowse link
G CDK17 cyclin dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr15:36,020,839...36,068,863
Ensembl chr15:36,023,519...36,076,381
JBrowse link
G CFH complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr38:2,878,677...2,956,226 JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility
no_association
ISO DNA:polymorphism:promoter:-168A>G
DNA:polymorphism:exon:c.1632G>C, rs4774
DNA:polymorphism:promoter:rs3087456, no association in a German cohort
RGD PMID:15821736 PMID:16426246 PMID:21653641 RGD:1358146 RGD:5491175 RGD:5491189 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
JBrowse link
G CLDN11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr34:34,912,903...34,929,441
Ensembl chr34:34,912,449...34,928,433
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr17:4,466,615...4,478,546 JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:18676363 PMID:19473295 RGD:6483339 RGD:6483346 NCBI chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
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 chr18:37,758,148...37,765,698 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 PMID:17086443 RGD:5686392 RGD:5686395 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CTSH cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
JBrowse link
G CTSL3 cathepsin L family member 3 ISO RGD PMID:17086443 RGD:5686392 NCBI chr 1:72,215,774...72,219,093 JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G DLA-DRA MHC class II 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 chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
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 chr13:29,128,500...29,199,354
Ensembl chr13:29,128,504...29,199,323
JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr25:50,533,767...50,537,513 JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 9:11,930,614...12,006,724
Ensembl chr 9:11,934,965...12,006,814
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)
RGD PMID:8879222 PMID:12098516 RGD:12903947 RGD:12903986 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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 chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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 chr  X:120,152,650...120,460,604
Ensembl chr  X:120,153,261...120,460,119
JBrowse link
G GC GC vitamin D binding protein susceptibility
no_association
ISO DNA:SNPs:exon:p.T420K, D416E(human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
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 chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
JBrowse link
G GRM8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr14:8,982,180...9,719,813
Ensembl chr14:8,983,802...9,719,357
JBrowse link
G GRN granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
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 chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :HLA-DRB1*0801 (human)
OMIM
CTD
RGD
PMID:20580995 PMID:25911099 RGD:5147573 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr12:12,658,415...12,664,945
Ensembl chr12:12,660,008...12,664,940
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855
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 chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
JBrowse link
G IL13 interleukin 13 severity ISO protein:increased expression:cerebrospinal fluid
protein:increased expression:serum
RGD PMID:21677024 PMID:22031307 RGD:5684368 RGD:8549589 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (human)
CTD
RGD
PMID:21455110 PMID:23517930 RGD:8698672 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL1B interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:10025794 PMID:15210533 PMID:25458313 RGD:1358741 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695 RGD:6892963 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
RGD PMID:18368064 PMID:24547735 RGD:8549631 RGD:8549632 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
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 chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
G IL32 interleukin 32 ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL4R interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
JBrowse link
G IL6 interleukin 6 severity
treatment
ISO DNA:polymorphism:promoter:-572 G>C(human)
DNA:polymorphism:promoter:-174G>C(human)
RGD PMID:23202972 PMID:24155968 PMID:26285213 RGD:11079567 RGD:12791288 RGD:12792202 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
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 chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
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 chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795
JBrowse link
G IRF8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179
JBrowse link
G JAG1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:16934875 PMID:20805994 RGD:6482233 RGD:6482240 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr35:14,476,656...14,737,535
Ensembl chr35:14,445,914...14,736,158
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G KIF1B kinesin family member 1B no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD
RGD
PMID:18997785 PMID:20502484 RGD:12738462 RGD:12738463 NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
JBrowse link
G KLHL6 kelch like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr34:16,443,282...16,556,991
Ensembl chr34:16,446,944...16,504,549
JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:105,902,147...105,907,585 JBrowse link
G LOC477699 alpha-2-macroglobulin ISO RGD PMID:11498265 RGD:1549857 NCBI chr27:36,654,328...36,695,775 JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC479911 glutathione S-transferase Mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273
JBrowse link
G LOC607874 cystatin-C-like ISO protein:decreased expression:cerebrospinal fluid RGD PMID:12589965 PMID:17086443 RGD:5686392 RGD:5686394 NCBI chr23:49,562...53,618 JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO RGD PMID:21177319 RGD:6483460 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LRRC8C leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:58,895,769...58,932,729
Ensembl chr 6:58,899,996...58,932,729
JBrowse link
G MAG myelin associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
JBrowse link
G MBP myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149
JBrowse link
G MMP12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
no_association
ISO mRNA:increased expression:blood, mononuclear cell
DNA:SNP:promoter:-1562C>T (human)
DNA:repeat, SNP:promoter
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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr35:26,256,311...26,267,357
Ensembl chr35:26,256,489...26,266,832
JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr26:6,308,313...6,379,937
Ensembl chr26:6,310,878...6,376,170
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
DNA:transition:cds:m.9055A>G (human)
RGD PMID:17619138 PMID:18708297 RGD:5490259 RGD:5490263 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:SNP::m.4917A>G RGD PMID:18708297 RGD:5490259 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
JBrowse link
G NABP1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr37:2,157,357...2,163,812
Ensembl chr37:2,157,356...2,161,091
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 severity
no_association
ISO DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)
DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16738668 PMID:17376543 RGD:6767558 RGD:6767565 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
JBrowse link
G NEDD9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr35:10,852,334...11,033,656
Ensembl chr35:10,854,295...10,964,650
JBrowse link
G NEFH neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human)
RGD PMID:31383792 PMID:33317883 RGD:127284875 RGD:127285024 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages RGD PMID:11829348 RGD:5508481 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236
JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr26:7,928,863...7,983,956
Ensembl chr26:7,940,985...7,983,740
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 chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:35,158,678...35,348,875
Ensembl chr 1:35,088,248...35,342,584
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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 chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PRF1 perforin 1 ISO DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell
RGD PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805 RGD:6482817 RGD:6482820 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PRNP prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr 3:84,060,417...84,286,008
Ensembl chr 3:84,064,440...84,286,360
JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 3:47,044,342...47,089,923
Ensembl chr 3:47,061,910...47,089,294
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:2,142,126...2,170,530
Ensembl chr13:2,142,876...2,169,944
JBrowse link
G RNF217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 1:63,902,985...64,094,491
Ensembl chr 1:63,962,515...64,085,011
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
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 chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SLC11A1 solute carrier family 11 member 1 no_association ISO DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15584484 PMID:16597321 PMID:18973068 RGD:5684937 RGD:5684960 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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 chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr24:32,661,665...32,666,267
Ensembl chr24:32,661,381...32,665,276
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member no_association
susceptibility
ISO DNA:SNPs:CDs:p.V379I, A565T(human)
DNA:synonymous mutation: :
RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279 RGD:6482280 RGD:6482281 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor disease_progression
no_association
ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:8887999 PMID:8964914 PMID:9270614 RGD:12904068 RGD:12904657 RGD:7401237 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFSF14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr20:53,604,101...53,607,522
Ensembl chr20:53,603,709...53,607,522
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr20:53,680,882...53,682,521
Ensembl chr20:53,679,880...53,682,706
JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:73,920,729...73,939,644
Ensembl chr11:73,927,007...73,937,655
JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
ISO DNA:silent mutation, haplotype:cds: (rs731236) (human)
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:polymorphisms: :rs731236,rs1544410,rs7975232(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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr26:22,162,675...22,168,149
Ensembl chr26:22,163,222...22,168,105
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 DNA:polymorphism:promoter:-1003A>G(human)
CTD Direct Evidence: marker/mechanism
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G CD59 CD59 molecule severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712 PMID:27049564 RGD:11530523 RGD:5147590 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL32 interleukin 32 exacerbates ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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 chr 4:21,534,309...21,612,528
Ensembl chr 4:21,534,006...21,611,987
JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G CD274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
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 chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL4R interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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 chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622
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 chr 4:21,534,309...21,612,528
Ensembl chr 4:21,534,006...21,611,987
JBrowse link
G APOA4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD80 CD80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
JBrowse link
G CTSS cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G GRN granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G KLC1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062
JBrowse link
G MMP19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr10:219,193...224,873
Ensembl chr10:219,618...224,778
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NEFH neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human)
associated with relapse;protein:increased expression:serum (human)
RGD PMID:30761586 PMID:33658322 RGD:127285025 RGD:127285027 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G SERPINE1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
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 ISO RGD PMID:15742444 RGD:1581162 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CRH corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CSF2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G DLL1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr12:72,265,078...72,272,347
Ensembl chr12:72,265,682...72,272,348
JBrowse link
G ELN elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:16846526 PMID:20064872 RGD:5147583 RGD:5147974 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IFNG interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL17A interleukin 17A severity
susceptibility
ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666 RGD:9068454 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 no_association ISO DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
RGD PMID:20331879 RGD:8655865 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MBL1 mannose binding lectin 1 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 3:52,054,243...52,064,423
Ensembl chr 3:52,054,831...52,080,240
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:temporal artery (human)
protein:increased expression:serum
RGD PMID:8843867 PMID:15998676 PMID:17502363 PMID:18512818 RGD:1580575 RGD:8547826 RGD:8547902 RGD:8657040 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:polymorphism: :1858C>T (human)
DNA:polymorphism: :p.R620W (rs2476601) (human)
RGD PMID:16078327 PMID:23946333 RGD:7829739 RGD:7829744 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility
ISO DNA:polymorphism: :896A>G,1196C>T(human)
DNA:polymorphism: :896A>G(rs4986790)(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158 RGD:7777159 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chr16:40,571,892...40,624,359
Ensembl chr16:40,571,892...40,620,885
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14734
    disease of anatomical entity 14414
      nervous system disease 12236
        autoimmune disease of the nervous system 451
          autoimmune disease of central nervous system 291
            Demyelinating Autoimmune Diseases, CNS + 284
            autoimmune epilepsy 0
            autoimmune neuropathy 0
            limbic encephalitis 0
            postinfectious encephalitis 0
            temporal arteritis 21
Path 2
Term Annotations click to browse term
  disease 14734
    disease of anatomical entity 14414
      Immune & Inflammatory Diseases 4562
        immune system disease 3998
          primary immunodeficiency disease 3389
            autoimmune disease 1927
              autoimmune disease of the nervous system 451
                autoimmune disease of central nervous system 291
                  Demyelinating Autoimmune Diseases, CNS + 284
                  autoimmune epilepsy 0
                  autoimmune neuropathy 0
                  limbic encephalitis 0
                  postinfectious encephalitis 0
                  temporal arteritis 21
paths to the root