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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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism, haplotype: :
RGD PMID:19722042 PMID:22786832 RGD:36049763 RGD:5147662 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAG myelin associated glycoprotein ISO protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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 chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr2A:94,961,024...95,029,437 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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr22:10,525,738...10,536,788 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:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 Ensembl chr10:134,172,724...134,186,227 JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125
JBrowse link
G AKAP12 A-kinase anchoring protein 12 ISO mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 6:149,058,350...149,176,710
Ensembl chr 6:153,757,081...153,873,925
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr12:41,652,954...41,656,393
Ensembl chr12:42,525,858...42,527,426
JBrowse link
G ANXA1 annexin A1 ISO protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:28578430 RGD:13703134 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G AQP4 aquaporin 4 severity
disease_progression
ISO RGD PMID:19660138 PMID:21056916 PMID:21157915 PMID:23707078 RGD:5148015 RGD:5490116 RGD:5490117 RGD:8696030 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:23212569 RGD:10059360 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G C3 complement C3 ISO protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C6 complement C6 severity ISO RGD PMID:11970970 RGD:625607 NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 9:108,989,621...109,256,841 JBrowse link
G CALCA calcitonin related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 ISO protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CASP9 caspase 9 ISO protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAV3 caveolin 3 onset ISO Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942
JBrowse link
G CBLB Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191
JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:spinal cord
protein:increased expression:brain (mouse)
RGD PMID:15833367 PMID:17666800 RGD:2307114 RGD:4890027 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:14512166 PMID:14655765 RGD:5688165 RGD:5688167 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:16061730 RGD:2307203 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CD4 CD4 molecule treatment ISO protein:decreased expression:T lymphocyte: RGD PMID:3097071 PMID:9138014 RGD:10058963 RGD:10058968 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:9379015 RGD:6902906 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
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 chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:15821736 RGD:1358146 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
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 chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916
JBrowse link
G COMT catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:22768796 RGD:7243111 NCBI chr13:26,926,788...26,979,767 JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO protein:increased expression:spinal cord RGD PMID:20162860 PMID:21679768 RGD:5686852 RGD:5686863 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTSC cathepsin C ISO RGD PMID:843913 RGD:1599653 NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847
JBrowse link
G CTSS cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16053521 RGD:4891973 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:16053521 PMID:24706865 RGD:4891973 RGD:9491767 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:21038468 RGD:5135506 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G DAB2 DAB adaptor protein 2 disease_progression ISO RGD PMID:21890121 RGD:7243155 NCBI chr 5:70,951,198...71,004,836
Ensembl chr 5:76,022,143...76,041,443
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019
JBrowse link
G DLL1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 6:168,440,192...168,449,071
Ensembl chr 6:173,534,292...173,544,759
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr 1:197,293,039...197,333,828
Ensembl chr 1:202,367,318...202,404,720
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression ISO RGD PMID:19524108 RGD:9685491 NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21182085 PMID:21565615 RGD:5508732 RGD:5508735 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:spinal cord RGD PMID:8929896 PMID:9814819 RGD:8655647 RGD:9831448 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
JBrowse link
G GHRH growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19620309 RGD:12905041 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G GJC2 gap junction protein gamma 2 ISO protein:decreased expression:white matter of spinal cord, gap junction (mouse) RGD PMID:22461072 RGD:13208593 NCBI chr 1:203,551,556...203,561,702 JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr10:83,498,338...83,540,730 JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO mRNA:increased expression:spinal cord: RGD PMID:11823861 PMID:15913792 RGD:9686086 RGD:9686113 NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:14691063 PMID:17085013 RGD:5508469 RGD:5508476 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G IFNG interferon gamma treatment
disease_progression
ISO RGD PMID:15661899 PMID:22896638 RGD:10755692 RGD:7987912 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23872438 RGD:7364993 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO RGD PMID:12620647 RGD:2316323 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
JBrowse link
G IL12A interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666
JBrowse link
G IL12B interleukin 12B ISO mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
JBrowse link
G IL13 interleukin 13 severity ISO RGD PMID:7523520 PMID:18250480 RGD:5684366 RGD:5684367 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL16 interleukin 16 ISO RGD PMID:17641011 RGD:5024940 NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
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 chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL18 interleukin 18 ISO mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889542 RGD:4889543 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr2A:99,419,686...99,462,650 JBrowse link
G IL21 interleukin 21 ISO RGD PMID:18997868 RGD:5147399 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL21R interleukin 21 receptor no_association
disease_progression
ISO RGD PMID:18353312 PMID:18546146 RGD:6892939 RGD:6892940 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19269041 RGD:2311529 NCBI chr12:65,757,069...65,762,418
Ensembl chr12:68,542,076...68,547,421
JBrowse link
G IL27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:19269041 RGD:2311529 NCBI chr10:6,053,549...6,103,863 JBrowse link
G IL32 interleukin 32 ameliorates ISO human gene in a mouse model RGD PMID:26564962 RGD:150340739 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:1383385 PMID:18239607 RGD:7829778 RGD:8142395 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:12791289 RGD:2307412 NCBI chr 7:23,415,922...23,420,767 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 chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G JAK3 Janus kinase 3 treatment ISO RGD PMID:25012120 RGD:11533939 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:9834080 PMID:16194572 PMID:16723470 RGD:5147639 RGD:5147647 RGD:5147666 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100986475 metallothionein-2 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
JBrowse link
G LOC100987081 HLA class II histocompatibility antigen, DR alpha chain ISO RGD PMID:8676084 RGD:5490166 NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
G LTA lymphotoxin alpha ISO mRNA:increased expression:spinal cord
mRNA:increased expression:brain
RGD PMID:7593556 PMID:9184655 RGD:1625038 RGD:4143220 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:15494405 RGD:1358431 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
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 chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
JBrowse link
G MDK midkine ISO RGD PMID:9814819 RGD:9831448 NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19922364 RGD:2325703 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9549496 RGD:8547909 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 3:39,372,102...39,450,066
Ensembl chr 3:39,688,104...39,699,486
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 chr 6:29,461,174...29,476,362
Ensembl chr 6:30,119,599...30,134,152
JBrowse link
G MT3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NGF nerve growth factor ISO protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr 1:87,223,597...87,276,759 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 chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr19:47,340,077...47,346,737
Ensembl chr19:56,243,124...56,250,024
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G OLIG1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr21:19,432,165...19,434,481 JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 treatment ISO RGD PMID:24941845 PMID:29682587 RGD:40902822 RGD:40902863 NCBI chr21:19,387,860...19,391,291 JBrowse link
G PDCD1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PDGFB platelet derived growth factor subunit B treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16042218 RGD:11080975 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
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:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PRF1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
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 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623
JBrowse link
G QKI QKI, KH domain containing RNA binding ISO RGD PMID:22740327 RGD:10045997 NCBI chr 6:161,361,413...161,523,414 JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO RGD PMID:8557821 RGD:6771380 NCBI chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394
JBrowse link
G RHOA ras homolog family member A severity ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:15892298 PMID:18991353 RGD:12801423 RGD:12801440 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 9:34,471,362...34,474,459 JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:22436018 RGD:9999395 NCBI chr20:41,583,429...41,585,773
Ensembl chr20:42,673,417...42,675,773
JBrowse link
G SNCB synuclein beta ISO RGD PMID:12496452 RGD:730073 NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr12:118,043,325...118,052,107
Ensembl chr12:121,417,557...121,425,708
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:17878325 PMID:22066025 RGD:6483041 RGD:6892946 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:11240014 RGD:7207888 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:11421579 RGD:12904661 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:12196270 RGD:1580348 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VDR vitamin D receptor treatment ISO RGD PMID:21287548 PMID:21318047 RGD:13210791 RGD:8158064 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:decreased expression:spinal cord:
mRNA:decreased expression:Cerebrospinal Fluid:
RGD PMID:12387457 PMID:17083617 RGD:634258 RGD:7421596 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
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 chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AIM2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:134,413,232...134,540,344
Ensembl chr 1:138,210,946...138,221,753
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOC2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr19:41,892,954...41,896,461 JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G B4GALT5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr20:45,977,801...46,058,429
Ensembl chr20:47,041,469...47,123,214
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G BDNF brain derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 9:108,989,621...109,256,841 JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CAV1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CBLB Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191
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 chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341
JBrowse link
G CCL13 C-C motif chemokine 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 chr17:22,430,633...22,432,893
Ensembl chr17:22,723,888...22,726,381
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
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 chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr 6:104,783,720...104,789,509
Ensembl chr 6:108,655,624...108,657,847
JBrowse link
G CD28 CD28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19525955 PMID:20190274 PMID:20634952 RGD:5490971 RGD:5490975 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
JBrowse link
G CD46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
JBrowse link
G CD58 CD58 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 PMID:24076602 NCBI chr 1:85,992,828...86,049,066
Ensembl chr 1:121,045,460...121,101,636
JBrowse link
G CD6 CD6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr11:56,269,585...56,283,516
Ensembl chr11:59,675,221...59,722,916
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 chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CD96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:108,694,670...108,798,114
Ensembl chr 3:115,619,374...115,720,858
JBrowse link
G CDK17 cyclin dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr12:93,864,941...93,980,914 JBrowse link
G CFH complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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 chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G CLDN11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 3:167,432,856...167,448,053
Ensembl chr 3:175,621,472...175,908,350
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 chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr2A:6,856,242...6,874,567 JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:18676363 PMID:19473295 RGD:6483339 RGD:6483346 NCBI chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 6:86,017,141...86,044,889 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 chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CST3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:12589965 PMID:17086443 RGD:5686392 RGD:5686394 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 PMID:17086443 RGD:5686392 RGD:5686395 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSH cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G CTSL cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum RGD PMID:20138139 RGD:5134999 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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 chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr 1:136,892,311...136,906,450 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:141,739,962...142,001,041
Ensembl chr  X:151,697,537...151,878,484
JBrowse link
G GC GC vitamin D binding protein susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)
CTD
RGD
PMID:12044990 PMID:12137326 PMID:18807170 PMID:19324981 PMID:25590278 RGD:5509885 RGD:5509887 RGD:5509922 RGD:5509923 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GRM8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 7:118,430,086...119,249,147 JBrowse link
G GRN granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
onset
disease_progression
ISO DNA:deletion: : (human)
DNA:deletion:: (human)
RGD PMID:10680782 PMID:17437619 PMID:23932298 RGD:12792225 RGD:12792249 RGD:5490267 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTM3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578
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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chr 9:20,884,742...20,886,317 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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666
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 chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
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 chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695 RGD:6892963 Ensembl chr16:27,774,864...27,821,769 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 chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple
CTD
RGD
PMID:17660530 PMID:19119414 PMID:19125193 PMID:19525955 PMID:24076602 RGD:2311526 NCBI chr10:6,053,549...6,103,863 JBrowse link
G IL32 interleukin 32 ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL4R interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 Ensembl chr16:27,642,702...27,737,445 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 chr 7:23,415,922...23,420,767 JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
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 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
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 chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
JBrowse link
G IRF8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073
JBrowse link
G JAG1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:16934875 PMID:20805994 RGD:6482233 RGD:6482240 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr 1:135,391,321...135,424,100 JBrowse link
G KIF1B kinesin family member 1B susceptibility
no_association
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 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
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 chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G KLHL6 kelch like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:180,523,141...180,591,218
Ensembl chr 3:188,692,200...188,760,926
JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr19:47,925,017...47,936,314
Ensembl chr19:56,815,073...56,826,689
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100977713 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr16:22,924,355...22,968,670
Ensembl chr16:32,336,675...32,380,262
JBrowse link
G LOC100987081 HLA class II histocompatibility antigen, DR alpha chain ISO DNA:SNPs: :multiple (human)
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
RGD
CTD
PMID:10527398 PMID:17660530 PMID:19834503 RGD:5490159 RGD:5490202 RGD:5490204 NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human)
DNA:polymorphism: :HLA-DPB1*0501 (human)
CTD
RGD
PMID:17125797 PMID:17956852 PMID:32560041 RGD:150429801 RGD:150429806 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G LRRC8C leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 1:92,299,691...92,384,733
Ensembl chr 1:91,105,551...91,138,447
JBrowse link
G MAG myelin associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
JBrowse link
G MBP myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
JBrowse link
G MMP12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
no_association
ISO DNA:SNP:promoter:-1562C>T (human)
DNA:SNP, repeat:promoter:-1562C>T (human)
DNA:repeat, SNP:promoter
mRNA:increased expression:blood, mononuclear cell
RGD PMID:10713364 PMID:19628284 PMID:20471697 PMID:23401127 RGD:13204754 RGD:13204795 RGD:13204826 RGD:13204848 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr 6:29,461,174...29,476,362
Ensembl chr 6:30,119,599...30,134,152
JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:120,755,760...120,831,536
Ensembl chr12:124,991,210...125,065,203
JBrowse link
G NABP1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr2B:78,980,156...78,989,309
Ensembl chr2B:196,895,166...196,903,977
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 no_association
severity
ISO DNA:SNPs: :multiple
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16738668 PMID:17376543 RGD:6767558 RGD:6767565 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024
JBrowse link
G NEDD9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 6:11,022,321...11,071,747
Ensembl chr 6:11,297,701...11,420,186
JBrowse link
G NEFH neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr22:10,525,738...10,536,788 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 chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages RGD PMID:11829348 RGD:5508481 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:118,731,761...118,786,039
Ensembl chr12:122,102,888...122,154,068
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 chr2B:129,111,509...129,121,127 JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 6:141,312,850...141,602,868
Ensembl chr 6:146,174,399...146,323,625
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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 chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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 chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
JBrowse link
G PRNP prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
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 chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
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 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr 4:20,719,548...20,835,439
Ensembl chr 4:25,995,263...26,107,683
JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr15:71,728,669...71,774,447
Ensembl chr15:90,922,199...90,956,179
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 8:96,897,388...96,950,440
Ensembl chr 8:99,070,813...99,123,495
JBrowse link
G RNF217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 6:122,747,128...122,875,930
Ensembl chr 6:126,867,604...126,992,867
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SH2D2A SH2 domain containing 2A susceptibility ISO DNA:polymorphism:promoter
DNA:repeat:promoter:-341(GA)13-33 (human)
RGD PMID:11528519 PMID:18554728 RGD:1358573 RGD:2298871 NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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 chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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 chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr20:41,694,152...41,698,874
Ensembl chr20:42,784,190...42,795,119
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 chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
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 chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TNFSF14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352
JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:92,030,205...92,056,776
Ensembl chr 9:120,376,592...120,402,948
JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD
RGD
PMID:21664963 PMID:25685788 PMID:25853421 PMID:26540116 PMID:27049563 RGD:11353119 RGD:11530654 RGD:13210790 RGD:5147559 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
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)
associated withHiccup;
CTD Direct Evidence: marker/mechanism
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G IL21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL32 interleukin 32 exacerbates ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482 PMID:27049564 RGD:11530523 RGD:7421588 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:10,525,738...10,536,788 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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 chr10:67,145,400...67,232,934
Ensembl chr10:69,671,222...69,758,229
JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G CD274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G GRN granulin precursor susceptibility ISO DNA:SNPs: :rs2879096, rs4792938(human)
protein:increased expression:cerebrospinal fluids
RGD PMID:20463744 PMID:21613335 RGD:5509591 RGD:5509596 NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL4R interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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 chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
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 chr10:67,145,400...67,232,934
Ensembl chr10:69,671,222...69,758,229
JBrowse link
G APOA4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD80 CD80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CTSS cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G GRN granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G KLC1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
JBrowse link
G MMP19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr12:33,068,282...33,075,324
Ensembl chr12:33,794,249...33,801,658
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NEFH neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr22:10,525,738...10,536,788 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 chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G SERPINE1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
JBrowse link
G CRH corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CSF2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G DLL1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 6:168,440,192...168,449,071
Ensembl chr 6:173,534,292...173,544,759
JBrowse link
G ELN elastin ISO RGD PMID:9101501 RGD:9585754
G FCGR2A Fc fragment of IgG receptor IIa ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G IFNG interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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 chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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 chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IL4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
protein:increased expression:temporal artery (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
protein:increased activity:temporal artery
RGD PMID:8843867 PMID:15998676 PMID:17502363 PMID:18512818 RGD:1580575 RGD:8547826 RGD:8547902 RGD:8657040 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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 chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
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 chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chr 8:16,459,660...16,508,333
Ensembl chr 8:13,404,889...13,456,046
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14345
      nervous system disease 12175
        autoimmune disease of the nervous system 449
          autoimmune disease of central nervous system 286
            Demyelinating Autoimmune Diseases, CNS + 279
            autoimmune epilepsy 0
            autoimmune neuropathy 0
            limbic encephalitis 0
            postinfectious encephalitis 0
            temporal arteritis 20
Path 2
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14345
      Immune & Inflammatory Diseases 4550
        immune system disease 4015
          primary immunodeficiency disease 3413
            autoimmune disease 1937
              autoimmune disease of the nervous system 449
                autoimmune disease of central nervous system 286
                  Demyelinating Autoimmune Diseases, CNS + 279
                  autoimmune epilepsy 0
                  autoimmune neuropathy 0
                  limbic encephalitis 0
                  postinfectious encephalitis 0
                  temporal arteritis 20
paths to the root