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: Demyelinating Autoimmune Diseases, CNS
Accession: DOID:9007010
browse the term
Definition: Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens.
Synonyms: exact_synonym: Autoimmune Demyelinating Diseases, Cerebral; Brain Autoimmune Demyelinating Diseases; CNS Autoimmune Demyelinating Disorders; Demyelinating Disease, Autoimmune, CNS; autoimmune demyelinating diseases, central nervous system; spinal cord demyelinating autoimmune diseases
primary_id: MESH:D020278
alt_id: RDO:0005168
xref: EFO:1000870
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IFNG
interferon gamma
disease_progression
ISO
protein:increased expression:T cell:
RGD
PMID:11063842
RGD:8157598
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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NEFL
neurofilament light chain
disease_progression
ISO
protein:increased expresssion:serum (human)
RGD
PMID:31383792
RGD:127284875
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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SLA-DRB1
MHC class II histocompatibility antigen SLA-DRB1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB5*0101 (human)
RGD
PMID:15201511
RGD:40818409
NCBI chr 7:24,901,386...24,914,016
Ensembl chr 7:24,881,775...24,914,053
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MAG
myelin associated glycoprotein
ISO
protein:decreased expression:optic nerve
RGD
PMID:9820787
RGD:9685300
NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926
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ZC3H12A
zinc finger CCCH-type containing 12A
disease_progression
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
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AQP4
aquaporin 4
ISO
RGD
PMID:20680636
RGD:5148026
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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EDAR
ectodysplasin A receptor
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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FANCI
FA complementation group I
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
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LOC100511376
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 PMID:28492532 More...
NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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POLG
DNA polymerase gamma, catalytic subunit
susceptibility
ISO
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | 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 ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | 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 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34777884 PMID:34782754 PMID:34927673 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35799515 PMID:35811324 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36403551 PMID:36689859 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
RGD:15039298
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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POLRMT
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:25741868
NCBI chr 2:77,694,271...77,708,099
Ensembl chr 2:77,694,266...77,708,096
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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 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:12098510
RGD:8655962
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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NEFH
neurofilament heavy chain
ISO
protein:decreased expression:spinal cord:
RGD
PMID:12742652
RGD:27226817
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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PLP1
proteolipid protein 1
ISO
human sequence peptide in a mouse model; associated with Herpesviridae infections
RGD
PMID:12811845
RGD:30296670
NCBI chr X:84,676,627...84,683,517
Ensembl chr X:84,666,733...84,685,058
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SERPINE1
serpin family E member 1
ISO
RGD
PMID:17983428
RGD:13208507
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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A2M
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:1710603
RGD:10046021
NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,440,810...62,483,678
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ADAM17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:15878627
RGD:1559178
NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
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ADAM8
ADAM metallopeptidase domain 8
ISO
RGD
PMID:9670863
RGD:2325244
NCBI chr14:141,221,177...141,233,728
Ensembl chr14:141,221,198...141,232,306
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AIF1
allograft inflammatory factor 1
ISO
protein:altered expression:spinal cord (rat)
RGD
PMID:19246105
RGD:2313022
NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,726,787...23,731,671
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AKAP12
A-kinase anchoring protein 12
ISO
mRNA,protein:increased expression:spinal cord
RGD
PMID:20155814
RGD:14348972
NCBI chr 1:14,904,109...15,017,016
Ensembl chr 1:14,908,115...15,016,997
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AMIGO2
adhesion molecule with Ig like domain 2
severity
ISO
RGD
PMID:28119027
RGD:14392778
NCBI chr 5:77,642,144...77,645,748
Ensembl chr 5:77,642,195...77,645,753
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ANXA1
annexin A1
ISO
protein:increased expression:brain, astrocyte, macrophage
RGD
PMID:9472682
RGD:2306942
NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
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APOE
apolipoprotein E
ISO
RGD
PMID:28578430
RGD:13703134
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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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 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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B2M
beta-2-microglobulin
ISO
RGD
PMID:15837577
RGD:6482690
NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
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B4GALT6
beta-1,4-galactosyltransferase 6
ISO
mRNA:increased expression:astrocyte
RGD
PMID:25216636
RGD:14390079
NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270
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BDNF
brain derived neurotrophic factor
ISO
RGD
PMID:23212569
RGD:10059360
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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C3
complement C3
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:22320401
RGD:7175513
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C6
complement C6
severity
ISO
RGD
PMID:11970970
RGD:625607
NCBI chr16:26,023,646...26,089,518
Ensembl chr16:26,020,628...26,084,652
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CACNA1B
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:11353727
RGD:1580151
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CALCB
calcitonin-related polypeptide beta
no_association
ISO
RGD
PMID:19563774
RGD:5684360
NCBI chr 2:44,043,135...44,048,651
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CASP3
caspase 3
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP8
caspase 8
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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CASP9
caspase 9
ISO
protein:increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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CAV3
caveolin 3
onset
ISO
Protein:increased expression:spinal cord, astrocyte
RGD
PMID:15925413
RGD:1582168
NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273
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CBLB
Cbl proto-oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr13:153,480,525...153,700,115
Ensembl chr13:153,395,978...153,700,056
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CCL1
C-C motif chemokine ligand 1
ISO
mRNA:decreased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
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CCL11
chemokine (C-C motif) ligand 11
ISO
mRNA:increased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA:decreased expression:lymph node mRNA:increased expression:spinal cord mRNA:increased expression:optic chiasma (rat)
RGD
PMID:11241588 PMID:17666800 PMID:19865101
RGD:2307114 RGD:4145472 RGD:8548888
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL3L1
chemokine (C-C motif) ligand 3-like 1
ISO
mRNA:increased expression:spinal cord
RGD
PMID:17666800
RGD:2307114
NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
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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 chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:14512166 PMID:14655765
RGD:5688165 RGD:5688167
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9655467
RGD:632391
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:15034073
RGD:6893394
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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CCR5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:spinal cord, macrophage, microglia (rat)
RGD
PMID:17484785
RGD:4890436
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD28
CD28 molecule
ISO
RGD
PMID:16061730
RGD:2307203
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CD4
CD4 molecule
treatment
ISO
protein:decreased expression:T lymphocyte:
RGD
PMID:3097071 PMID:9138014
RGD:10058963 RGD:10058968
NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
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CD80
CD80 molecule
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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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 chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
CIITA
class II major histocompatibility complex transactivator
ISO
RGD
PMID:15821736
RGD:1358146
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
G
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:7541143 PMID:10650887 PMID:21107918
RGD:6483335 RGD:6483351 RGD:6483353
NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,083...20,765,553
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COMT
catechol-O-methyltransferase
treatment
ISO
RGD
PMID:25242632
RGD:13450949
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CPB2
carboxypeptidase B2
ISO
RGD
PMID:22768796
RGD:7243111
NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241
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CSPG4
chondroitin sulfate proteoglycan 4
ISO
protein:increased expression:spinal cord
RGD
PMID:20162860 PMID:21679768
RGD:5686852 RGD:5686863
NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTSC
cathepsin C
ISO
RGD
PMID:843913
RGD:1599653
NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516
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CTSS
cathepsin S
ISO
RGD
PMID:21439785
RGD:5686915
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
G
CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16053521
RGD:4891973
NCBI chr 6:19,312,351...19,324,439
G
CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:16053521 PMID:24706865
RGD:4891973 RGD:9491767
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
G
CXCR2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:19616545
RGD:7257694
NCBI chr15:120,219,657...120,230,203
G
CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:21038468
RGD:5135506
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
G
DAB2
DAB adaptor protein 2
disease_progression
ISO
RGD
PMID:21890121
RGD:7243155
NCBI chr16:24,590,638...24,776,937
Ensembl chr16:24,590,645...24,646,122
G
DLK1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:24676147
RGD:150520045
NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
G
DLL1
delta like canonical Notch ligand 1
ISO
RGD
PMID:17947672
RGD:6482235
NCBI chr 1:198,815...211,346
Ensembl chr 1:199,358...211,346
G
DLL4
delta like canonical Notch ligand 4
ameliorates
ISO
RGD
PMID:21813770
RGD:155663662
NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
G
DUSP10
dual specificity phosphatase 10
ISO
RGD
PMID:15306813
RGD:7775013
NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857
G
ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
disease_progression
ISO
RGD
PMID:19524108
RGD:9685491
NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010
G
EPO
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18382691
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
G
ERN1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr12:14,881,913...14,963,290
Ensembl chr12:14,881,923...14,963,284
G
ESR2
estrogen receptor 2
ISO
RGD
PMID:21182085 PMID:21565615
RGD:5508732 RGD:5508735
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
G
FASLG
Fas ligand
treatment
ISO
RGD
PMID:10944459
RGD:12903984
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
G
FGF2
fibroblast growth factor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:8929896 PMID:9814819
RGD:8655647 RGD:9831448
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
G
FLT1
fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:18721816
RGD:10402153
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
G
FOXO3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27742544
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
G
GHRH
growth hormone releasing hormone
resistance
ISO
RGD
PMID:21846799
RGD:5687168
NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
G
GHRL
ghrelin and obestatin prepropeptide
treatment
ISO
RGD
PMID:19620309
RGD:12905041
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962
G
GLI1
GLI family zinc finger 1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421
G
GLUD1
glutamate dehydrogenase 1
ISO
mRNA, protein:decreased expression:spinal cord
RGD
PMID:9145307
RGD:6484657
NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520
G
GPX3
glutathione peroxidase 3
ISO
RGD
PMID:22320401
RGD:7175513
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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HAVCR2
hepatitis A virus cellular receptor 2
ISO
mRNA:increased expression:spinal cord:
RGD
PMID:11823861 PMID:15913792
RGD:9686086 RGD:9686113
NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:14691063 PMID:17085013
RGD:5508469 RGD:5508476
NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
G
IFNB1
interferon beta 1
exacerbates treatment ameliorates
ISO
RGD
PMID:8955226 PMID:9578846 PMID:18997868 PMID:19380780
RGD:401854237 RGD:401854246 RGD:401854247 RGD:5147399
NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
G
IFNG
interferon gamma
treatment disease_progression
ISO
RGD
PMID:15661899 PMID:22896638
RGD:10755692 RGD:7987912
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IGF1
insulin like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:7541143
RGD:6483353
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:23872438
RGD:7364993
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL10RA
interleukin 10 receptor subunit alpha
ISO
RGD
PMID:12620647
RGD:2316323
NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168
G
IL12A
interleukin 12A
ISO
RGD
PMID:12471147
RGD:724447
NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
G
IL12B
interleukin 12B
ISO
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473
RGD:4831840
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
G
IL13
interleukin 13
severity
ISO
RGD
PMID:7523520 PMID:18250480
RGD:5684366 RGD:5684367
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
G
IL16
interleukin 16
ISO
RGD
PMID:17641011
RGD:5024940
NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
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 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
G
IL18
interleukin 18
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9834127 PMID:9846824
RGD:4889542 RGD:4889543
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL18R1
interleukin 18 receptor 1
ISO
mRNA:increased expression:lymph node
RGD
PMID:19269041
RGD:2311529
NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684
G
IL1RN
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7593560
RGD:8551836
G
IL21
interleukin 21
ISO
RGD
PMID:18997868
RGD:5147399
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
G
IL21R
interleukin 21 receptor
no_association disease_progression
ISO
RGD
PMID:18353312 PMID:18546146
RGD:6892939 RGD:6892940
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
G
IL22
interleukin 22
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
G
IL27
interleukin 27
ISO
protein:decreased expression:blood serum (mouse)
RGD
PMID:33403844
RGD:126790527
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
G
IL4
interleukin 4
treatment
ISO
RGD
PMID:1383385 PMID:18239607
RGD:7829778 RGD:8142395
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
G
IL6
interleukin 6
ISO
protein:increased expression:oligodendrocytes (rat)
RGD
PMID:9358769 PMID:23322593
RGD:12791289 RGD:2307412
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
ITGA4
integrin subunit alpha 4
treatment susceptibility
ISO
rat bone marrow cells in a mouse model
RGD
PMID:12626659 PMID:18722022
RGD:9698418 RGD:9698436
NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364
G
JAG1
jagged canonical Notch ligand 1
ISO
RGD
PMID:17947672
RGD:6482235
NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
G
JAK2
Janus kinase 2
ISO
RGD
PMID:22066025
RGD:6483041
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
G
JAK3
Janus kinase 3
treatment
ISO
RGD
PMID:25012120
RGD:11533939
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
G
KDR
kinase insert domain receptor
ISO
RGD
PMID:19233483
RGD:5684404
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:25972476
RGD:12910744
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
LRP1
LDL receptor related protein 1
ISO
protein:increased expression:cerebellum, spinal cord
RGD
PMID:19299462
RGD:13800552
NCBI chr 5:22,435,636...22,519,276
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 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
G
MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:15494405
RGD:1358431
NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
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 PMID:24070732 More...
RGD:30296670 RGD:7349334
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
G
MDK
midkine
ISO
RGD
PMID:9814819
RGD:9831448
NCBI chr 2:16,130,787...16,133,791
Ensembl chr 2:16,130,788...16,133,510
G
MIR23B
microRNA mir-23b
treatment
ISO
mRNA:decreased expression:spinal cord (mouse)
RGD
PMID:22660635
RGD:155663483
NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
G
MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:19922364
RGD:2325703
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
MMP7
matrix metallopeptidase 7
ISO
RGD
PMID:9549496
RGD:8547909
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
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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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
MOBP
myelin associated oligodendrocyte basic protein
ISO
RGD
PMID:10623862
RGD:27226694
NCBI chr13:24,138,078...24,186,838
G
MOG
myelin oligodendrocyte glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10384097 PMID:12799014 PMID:12904460 PMID:14624757 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 PMID:18667803 PMID:21068375 PMID:21317386 PMID:21341682 PMID:23360710 PMID:23547115 PMID:23639249 PMID:30661753 More...
RGD:9685372 RGD:9685373 RGD:9685375
NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817
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MT-2B
metallothionein-2A
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
G
MT3
metallothionein 3
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
G
NCAM1
neural cell adhesion molecule 1
ISO
protein:decreased expression:hippocampus
RGD
PMID:17064783
RGD:40924670
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NEFL
neurofilament light chain
ISO
protein:increased expression:cerebrospinal fluid, spinal cord
RGD
PMID:16182933
RGD:2299007
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
G
NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19910389
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NGF
nerve growth factor
ISO
protein, mRNA:increased expression:thalamus and cortex, CNS
RGD
PMID:8866783
RGD:5508386
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
G
NGFR
nerve growth factor receptor
severity
ISO
mRNA:increased expression:central nervous system
RGD
PMID:8866783 PMID:16519950
RGD:5508312 RGD:5508386
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:21857957
RGD:5509069
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
NR1H2
nuclear receptor subfamily 1 group H member 2
ISO
RGD
PMID:21266776
RGD:6480877
NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,239,500...55,245,456
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:17322387
RGD:4892331
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
mRNA:increased expression:brain subventricular zone:
RGD
PMID:15589512
RGD:5684777
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
G
OLIG1
oligodendrocyte transcription factor 1
treatment
ISO
RGD
PMID:24941845
RGD:40902822
NCBI chr13:196,644,065...196,646,406
Ensembl chr13:196,644,059...196,646,403
G
OLIG2
oligodendrocyte transcription factor 2
treatment
ISO
RGD
PMID:24941845 PMID:29682587
RGD:40902822 RGD:40902863
NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
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PDCD1
programmed cell death 1
susceptibility
ISO
RGD
PMID:24648472
RGD:40818258
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
G
PDGFB
platelet derived growth factor subunit B
treatment
ISO
RGD
PMID:16042218
RGD:11080975
Ensembl chr 5:8,986,462...9,007,435
G
PDGFRA
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
G
PDGFRB
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:20303183
RGD:6482686
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
G
PLP1
proteolipid protein 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21068375 PMID:24941845
RGD:40902822
NCBI chr X:84,676,627...84,683,517
Ensembl chr X:84,666,733...84,685,058
G
PPARA
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261635
NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
G
PRF1
perforin 1
ISO
RGD
PMID:20708278
RGD:6482806
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
G
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
severity
ISO
RGD
PMID:19486896
RGD:6484540
NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:microglia, macrophage, protein:increased expression:cerebral cortex, cerebellum, spinal cord
RGD
PMID:10229132 PMID:21667309
RGD:5688149 RGD:5688250
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:endothelial cell protein:increased expression:cerebral cortex, cerebellum, spinal cord
RGD
PMID:10229132 PMID:21667309
RGD:5688149 RGD:5688250
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
G
PTN
pleiotrophin
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:9814819
RGD:9831448
NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044
G
QKI
QKI, KH domain containing RNA binding
ISO
RGD
PMID:22740327
RGD:10045997
NCBI chr 1:4,732,575...4,883,386
Ensembl chr 1:4,735,514...4,883,392
G
RANGRF
RAN guanine nucleotide release factor
ISO
RGD
PMID:8557821
RGD:6771380
NCBI chr12:53,484,584...53,486,716
Ensembl chr12:53,485,265...53,486,713
G
RHOA
ras homolog family member A
severity
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
G
SERPINE1
serpin family E member 1
ISO
mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:
RGD
PMID:11733372
RGD:13208549
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:15892298 PMID:18991353
RGD:12801423 RGD:12801440
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
G
SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
G
SIRT1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23547115
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
G
SLA-DRA
MHC class II DR-alpha
ISO
RGD
PMID:8676084
RGD:5490166
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,054...24,835,158
G
SLPI
secretory leukocyte peptidase inhibitor
treatment
ISO
RGD
PMID:22436018
RGD:9999395
NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387
G
SNCB
synuclein beta
ISO
RGD
PMID:12496452
RGD:730073
NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861
G
SRSF9
serine and arginine rich splicing factor 9
treatment
ISO
RGD
PMID:20616573
RGD:11040805
NCBI chr14:40,425,412...40,433,950
Ensembl chr14:40,419,093...40,434,047
G
STAT1
signal transducer and activator of transcription 1
ISO
RGD
PMID:22066025
RGD:6483041
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
G
STAT3
signal transducer and activator of transcription 3
ISO
RGD
PMID:17878325 PMID:22066025
RGD:6483041 RGD:6892946
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
G
STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:11240014
RGD:7207888
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
G
TGFB1
transforming growth factor beta 1
ISO
mRNA, protein:increased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
G
TGFB2
transforming growth factor beta 2
ISO
mRNA, protein:decreased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
G
TIMP3
TIMP metallopeptidase inhibitor 3
ISO
protein:increased expression:spinal cord
RGD
PMID:15878627
RGD:1559178
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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TLR2
toll like receptor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
TLR4
toll like receptor 4
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:11421579
RGD:12904661
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
VCAM1
vascular cell adhesion molecule 1
ISO
RGD
PMID:12196270
RGD:1580348
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
G
VDR
vitamin D receptor
treatment
ISO
RGD
PMID:21287548 PMID:21318047
RGD:13210791 RGD:8158064
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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 chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:20978211
RGD:5685386
NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
G
XBP1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526
G
A2M
alpha-2-macroglobulin
ISO
RGD
PMID:11498265
RGD:1549857
NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,440,810...62,483,678
G
ACAN
aggrecan
ISO
protein:altered expression:central nervous system, plaque (human)
RGD
PMID:11764092
RGD:2315836
NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194
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ACHE
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:20714168
RGD:5686885
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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AGER
advanced glycosylation end-product specific receptor
susceptibility
ISO
DNA:polymorphism:cds:p.G82S rs2070600 (human)
RGD
PMID:21511691
RGD:6767562
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AGT
angiotensinogen
ISO
protein:decreased expression:brain,astrocyte:
RGD
PMID:17715340
RGD:13432361
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
G
APOA1
apolipoprotein A1
ISO
protein:increased expression: serum
RGD
PMID:20350318
RGD:5508215
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
G
APOC2
apolipoprotein C2
ISO
RGD
PMID:10335523
RGD:1358408
NCBI chr 6:51,404,219...51,406,302
G
APOE
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15048896
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
G
B4GALT5
beta-1,4-galactosyltransferase 5
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr17:51,257,273...51,334,566
Ensembl chr17:51,259,813...51,334,020
G
B4GALT6
beta-1,4-galactosyltransferase 6
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270
G
BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20122907
NCBI chr13:104,946,732...105,007,568
G
BCL2L2
BCL2 like 2
ISO
mRNA:decreased expression:brain:
RGD
PMID:24270187
RGD:14394512
NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763
G
BDNF
brain derived neurotrophic factor
onset
ISO
protein:decreased expression:serum
RGD
PMID:20656764
RGD:5684915
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
CACNA1B
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:11353727
RGD:1580151
G
CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
G
CAV1
caveolin 1
ISO
DNA:repeats, haplotypes:multiple
RGD
PMID:19828204
RGD:8661778
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
G
CBLB
Cbl proto-oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr13:153,480,525...153,700,115
Ensembl chr13:153,395,978...153,700,056
G
CCL1
C-C motif chemokine ligand 1
ISO
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
G
CCL2
chemokine (C-C motif) ligand 2
ISO
DNA:SNPs, haplotype
RGD
PMID:19865101
RGD:4145472
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
G
CCL20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr15:129,172,743...129,176,069
G
CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:brain, frontal cortex (human)
RGD
PMID:11091283
RGD:4890028
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:21427490
RGD:6892919
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 More...
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
G
CD28
CD28 molecule
ISO
DNA:SNP:promoter:-372G>A (human)
RGD
PMID:14975605
RGD:1358478
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153
G
CD46
CD46 molecule, complement regulatory protein
ISO
RGD
PMID:21177319
RGD:6483460
NCBI chr 9:135,025,439...135,078,910
G
CD58
CD58 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955 PMID:24076602
NCBI chr 4:104,170,827...104,225,029
Ensembl chr 4:104,169,883...104,227,917
G
CD6
CD6 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953 PMID:24076602
NCBI chr 2:10,739,560...10,785,548
Ensembl chr 2:10,738,471...10,785,516
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CD86
CD86 molecule
susceptibility
ISO
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
RGD
PMID:26531698
RGD:11354964
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
CD96
CD96 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:148,103,424...148,192,272
Ensembl chr13:148,090,630...148,192,232
G
CDK17
cyclin dependent kinase 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 5:87,180,132...87,282,391
Ensembl chr 5:87,179,615...87,295,167
G
CFH
complement factor H
no_association
ISO
RGD
PMID:21618592
RGD:5684555
G
CIITA
class II major histocompatibility complex transactivator
no_association susceptibility
ISO
DNA:polymorphism:exon:c.1632G>C, rs4774 DNA:polymorphism:promoter:rs3087456, no association in a German cohort DNA:polymorphism:promoter:-168A>G
RGD
PMID:15821736 PMID:16426246 PMID:21653641
RGD:1358146 RGD:5491175 RGD:5491189
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
G
CLDN11
claudin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25911099
NCBI chr13:109,075,672...109,089,097
Ensembl chr13:109,075,452...109,090,111
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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 chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
G
CMAH
cytidine monophospho-N-acetylneuraminic acid hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:19,879,367...19,917,761
Ensembl chr 7:19,870,966...19,955,759
G
CMPK2
cytidine/uridine monophosphate kinase 2
ISO
mRNA:altered expression:PMN cell (human)
RGD
PMID:20136355
RGD:5133255
NCBI chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871
G
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:18676363 PMID:19473295
RGD:6483339 RGD:6483346
NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,083...20,765,553
G
CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12876144
NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
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 chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:brain
RGD
PMID:20456365
RGD:5688302
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
G
CST3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:12589965 PMID:17086443
RGD:5686392 RGD:5686394
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
no_association
ISO
DNA:SNP:CDS:49A>G (human) DNA:SNPs: :rs3087243,rs11571302(human)
RGD
PMID:10082437 PMID:17942509 PMID:19740340
RGD:1358538 RGD:2301975 RGD:7411672
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
G
CTSB
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:11134381 PMID:17086443
RGD:5686392 RGD:5686395
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
G
CTSH
cathepsin H
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072
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CTSL
cathepsin L
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum
RGD
PMID:20138139
RGD:5134999
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:9837822 PMID:25741868 PMID:25741914
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
G
DNAAF11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:8,531,612...8,605,904
Ensembl chr 4:8,532,739...8,608,582
G
DUSP28
dual specificity phosphatase 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr15:139,536,828...139,539,448
Ensembl chr15:139,537,326...139,539,438
G
EDN1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12646761
RGD:8661710
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
ERN1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr12:14,881,913...14,963,290
Ensembl chr12:14,881,923...14,963,284
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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
G
FCGR3A
Fc fragment of IgG receptor IIIa
disease_progression
ISO
protein:increased expression:gamma-delta T cell
RGD
PMID:18155780
RGD:5508375
NCBI chr 4:88,948,357...88,956,513
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:123,456,952...123,684,814
Ensembl chr X:123,456,947...123,684,790
G
GC
GC vitamin D binding protein
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma: DNA:SNPs:exon:p.T420K, D416E(human) protein:decreased expression:cerebrospinal fluid
CTD RGD
PMID:12044990 PMID:12137326 PMID:18807170 PMID:19324981 PMID:25590278
RGD:5509885 RGD:5509887 RGD:5509922 RGD:5509923
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
G
GLI1
GLI family zinc finger 1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421
G
GRM8
glutamate metabotropic receptor 8
ISO
protein:increased expression:astrocyte, microglia, macrophage
RGD
PMID:15589052
RGD:6771187
NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,951,003...21,758,568
G
GRN
granulin precursor
ISO
protein:increased expression:macrophage, microglia
RGD
PMID:21613335
RGD:5509591
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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GSTM3
glutathione S-transferase mu 3
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
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H6PD
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
ISO
DNA:SNP:exon: rs17368528 (human)
RGD
PMID:19935835
RGD:6784513
NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:cytoplasm:
RGD
PMID:20037577
RGD:9590131
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
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HSP90AB1
heat shock protein 90 alpha family class B member 1
ISO
RGD
PMID:14688203
RGD:5686803
NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression: cerebrospinal fluid
RGD
PMID:16303141
RGD:6480236
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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ICAM1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNB1
interferon beta 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:15389896 PMID:23517930 PMID:27806875 More...
RGD:401854232
NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
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IFNG
interferon gamma
susceptibility
ISO
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9818947 PMID:23517930
RGD:1358738
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IGF2
insulin like growth factor 2
ISO
protein:increased expression:macrophage
RGD
PMID:10417663
RGD:5510017
NCBI chr 2:1,469,183...1,496,417
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23517930
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL12A
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
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IL13
interleukin 13
severity
ISO
protein:increased expression:cerebrospinal fluid protein:increased expression:serum
RGD
PMID:21677024 PMID:22031307
RGD:5684368 RGD:8549589
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL17A
interleukin 17A
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21455110 PMID:23517930
RGD:8698672
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
G
IL21R
interleukin 21 receptor
ISO
DNA:polymorphisms: :
RGD
PMID:20072140 PMID:21281812
RGD:6892695 RGD:6892963
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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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 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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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 chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
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IL4
interleukin 4
onset
ISO
DNA:repeat:intron 3:allele B1 (human)
RGD
PMID:9184650
RGD:1358745
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL4R
interleukin 4 receptor
ISO
RGD
PMID:14712310
RGD:4890395
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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IL6
interleukin 6
severity treatment
ISO
DNA:polymorphism:promoter:-572 G>C(human) DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23202972 PMID:24155968 PMID:26285213
RGD:11079567 RGD:12791288 RGD:12792202
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17660816
NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,684,796...57,744,709
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IL7R
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3
ClinVar
PMID:21664875 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:28436970 PMID:28492532 PMID:32576985 PMID:32765500 More...
NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
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IRF5
interferon regulatory factor 5
susceptibility
ISO
DNA:SNPs: :rs3807306, rs4728142 (human)
RGD
PMID:20861862 PMID:25392335
RGD:11055911 RGD:40924643
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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IRF8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953
NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406
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JAG1
jagged canonical Notch ligand 1
disease_progression
ISO
RGD
PMID:16934875 PMID:20805994
RGD:6482233 RGD:6482240
NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
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JARID2
jumonji and AT-rich interaction domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:11,358,243...11,601,715
Ensembl chr 7:11,359,230...11,601,401
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24070676
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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KIF1B
kinesin family member 1B
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD RGD
PMID:18997785 PMID:20502484
RGD:12738462 RGD:12738463
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
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KIF5A
kinesin family member 5A
susceptibility
ISO
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
RGD
PMID:20508602
RGD:12793067
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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KLHL6
kelch like family member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:121,426,618...121,487,260
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KLK6
kallikrein related peptidase 6
ISO
RGD
PMID:11802715
RGD:2314867
NCBI chr 6:55,629,983...55,639,215
Ensembl chr 6:55,629,991...55,638,080
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LOC100519934
uncharacterized LOC100519934
ISO
RGD
PMID:14657362
RGD:1358462
NCBI chr 1:73,119,758...73,124,368
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LOC100739508
glutathione S-transferase P-like
disease_progression
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10680782
RGD:5490267
NCBI chr 2:5,005,498...5,009,247
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LOC110258578
interleukin-1 beta-like
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:10025794 PMID:15210533 PMID:25458313
RGD:1358741
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LRCH1
leucine rich repeats and calponin homology domain containing 1
ISO
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
MouseDO
NCBI chr11:20,687,657...20,906,743
Ensembl chr11:20,688,596...20,906,608
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LRRC8C
leucine rich repeat containing 8 VRAC subunit C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 4:126,957,099...127,079,042
Ensembl chr 4:126,957,105...127,037,216
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MAG
myelin associated glycoprotein
ISO
RGD
PMID:2419505
RGD:9685292
NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926
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MBP
myelin basic protein
ISO
RGD
PMID:1691612
RGD:1358488
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
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MCAM
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
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MMP12
matrix metallopeptidase 12
susceptibility
ISO
DNA:SNP:promoter:-82A>G (human)
RGD
PMID:19628284
RGD:13204795
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
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MMP9
matrix metallopeptidase 9
no_association susceptibility
ISO
DNA:repeat, SNP:promoter DNA:SNP:promoter:-1562C>T (human) DNA:SNP, repeat:promoter:-1562C>T (human) mRNA:increased expression:blood, mononuclear cell
RGD
PMID:10713364 PMID:19628284 PMID:20471697 PMID:23401127
RGD:13204754 RGD:13204795 RGD:13204826 RGD:13204848
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MOG
myelin oligodendrocyte glycoprotein
ISO
RGD
PMID:17142321
RGD:9685374
NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817
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MPHOSPH9
M-phase phosphoprotein 9
susceptibility
ISO
DNA:snp:intron:122222678G>T rs1790100 (human)
RGD
PMID:19879194
RGD:2316985
NCBI chr14:29,659,027...29,726,756
Ensembl chr14:29,659,034...29,724,461
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
DNA:transition:cds:m.9055A>G (human) DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD
PMID:17619138 PMID:18708297
RGD:5490259 RGD:5490263
NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
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MT-ATP8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
DNA:point mutation: :m.8406C>T (human)
RGD
PMID:17619138
RGD:5490263
NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:amplification:cds:cerebral gray matter (human)
RGD
PMID:18566918
RGD:5490252
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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NABP1
nucleic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr15:96,313,884...96,322,108
Ensembl chr15:96,313,903...96,335,191
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ND2
NADH dehydrogenase subunit 2
ISO
DNA:SNP::m.4917A>G
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
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NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
RGD
PMID:18682780
RGD:6482255
NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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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 6:51,317,386...51,358,665
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NEDD9
neural precursor cell expressed, developmentally down-regulated 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:7,807,042...8,093,553
Ensembl chr 7:7,807,044...7,914,061
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NEFH
neurofilament heavy chain
severity
ISO
RGD
PMID:16764346
RGD:27226808
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
disease_progression
ISO
protein:increased expresssion:serum (human) protein:increased expression:serum (human)
RGD
PMID:31383792 PMID:33317883
RGD:127284875 RGD:127285024
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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NGFR
nerve growth factor receptor
ISO
protein:increased expression:reactive astrocytes, microglia/macrophages
RGD
PMID:11829348
RGD:5508481
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NLRP3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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NOTCH4
notch receptor 4
ISO
DNA: snps: cds: rs422951
RGD
PMID:21654846
RGD:6480692
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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NR1H3
nuclear receptor subfamily 1 group H member 3
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:27253448
NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
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P2RX7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17728465
NCBI chr14:31,415,188...31,476,502
Ensembl chr14:31,415,193...31,476,472
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PDCD1
programmed cell death 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
ClinVar OMIM
PMID:12402038 PMID:15912506
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PHACTR2
phosphatase and actin regulator 2
ISO
DNA: snp: : rs1015340
RGD
PMID:20546594
RGD:6483093
NCBI chr 1:21,438,744...21,723,255
Ensembl chr 1:21,443,970...21,722,922
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PLA2G7
phospholipase A2 group VII
ISO
protein:increased expression:plasma
RGD
PMID:22246459
RGD:6482783
NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345
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PNMT
phenylethanolamine N-methyltransferase
ISO
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
RGD
PMID:11958827
RGD:1358561
NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,398...22,649,999
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POLG
DNA polymerase gamma, catalytic subunit
ISO
DNA:missense mutations:cds:
RGD
PMID:20837861
RGD:8694283
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2843795 PMID:9664777
NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
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PRF1
perforin 1
ISO
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 protein:increased expression:blood, T cell
RGD MouseDO
PMID:19680139 PMID:20921521 PMID:22001684
RGD:6482805 RGD:6482817 RGD:6482820
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:white matter,astrocyte:
RGD
PMID:19716418
RGD:10412736
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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PRNP
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:20174631
RGD:6483446
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
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PTPN22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:15934099
RGD:6484550
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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PTPRC
protein tyrosine phosphatase receptor type C
ISO
DNA:snp:exon:c.77C>G (human)
RGD
PMID:11101853
RGD:1358566
NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308
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RBPJ
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25853421
NCBI chr 8:19,933,035...20,166,746
Ensembl chr 8:19,922,779...20,166,754
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RGMA
repulsive guidance molecule BMP co-receptor a
ISO
DNA:SNPs:intron: (rs997941, rs34925346) (human)
RGD
PMID:20072140
RGD:6892695
NCBI chr 7:85,921,524...85,968,887
Ensembl chr 7:85,921,594...85,968,888
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RHOA
ras homolog family member A
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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RNF19A
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 4:36,654,197...36,727,514
Ensembl chr 4:36,635,285...36,725,638
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RNF217
ring finger protein 217
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
NCBI chr 1:37,784,359...37,912,122
Ensembl chr 1:37,788,472...37,912,122
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SELE
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 4:81,289,061...81,299,657
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 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
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SLA-DRA
MHC class II DR-alpha
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) DNA:polymorphism:promoter (human) DNA:SNPs: :multiple (human)
CTD RGD
PMID:10527398 PMID:17660530 PMID:19834503
RGD:5490159 RGD:5490202 RGD:5490204
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,054...24,835,158
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SLC11A1
solute carrier family 11 member 1
no_association
ISO
DNA:repeat:promoter (human) DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15584484 PMID:16597321 PMID:18973068
RGD:5684937 RGD:5684960
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SPP1
secreted phosphoprotein 1
ISO
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum
RGD
PMID:11721059 PMID:15885319
RGD:1581329 RGD:1581472
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
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STAT4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
G
SYS1
SYS1 golgi trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:47,686,184...47,694,045
Ensembl chr17:47,686,258...47,694,034
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility no_association
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 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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TLR4
toll like receptor 4
ISO
mRNA:increased expression:cerebrospinal fluid, mononuclear cell
RGD
PMID:18644848
RGD:2312575
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFAIP3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5
ClinVar OMIM
PMID:22801493 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFSF14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 2:72,478,178...72,483,885
Ensembl chr 2:72,473,477...72,483,989
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TNFSF9
TNF superfamily member 9
ISO
protein:increased expression:plasma, monocyte (human)
RGD
PMID:16970683
RGD:2317352
NCBI chr 2:72,578,811...72,582,834
Ensembl chr 2:72,578,821...72,582,745
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TRAF1
TNF receptor associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:260,948,191...260,973,978
Ensembl chr 1:260,949,111...260,973,709
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TYK2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955
NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456
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VCAM1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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VDR
vitamin D receptor
susceptibility no_association
ISO
DNA:polymorphisms: :rs731236,rs7975232(human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) DNA:silent mutation, haplotype:cds: (rs731236) (human)
RGD CTD
PMID:21664963 PMID:25685788 PMID:25853421 PMID:26540116 PMID:27049563
RGD:11353119 RGD:11530654 RGD:13210790 RGD:5147559
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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VHL
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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XBP1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526
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AQP4
aquaporin 4
disease_progression
ISO
associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 PMID:23116879 PMID:23890015 PMID:23995423 PMID:24070676 More...
RGD:5148024 RGD:5148032 RGD:8695993 RGD:8696026 RGD:8696032 RGD:8696033 RGD:8696034
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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CD59
CD59 molecule
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr 2:27,186,587...27,207,303
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
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IL21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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MBP
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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NEFH
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
G
AQP4
aquaporin 4
ISO
RGD
PMID:17468440
RGD:8698645
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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ADAMTS14
ADAM metallopeptidase with thrombospondin type 1 motif 14
ISO
DNA:SNPs:intron: A>G, C>G (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr14:73,565,158...73,657,257
Ensembl chr14:73,538,090...73,653,560
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BCHE
butyrylcholinesterase
ISO
RGD
PMID:20122907
RGD:5687690
NCBI chr13:104,946,732...105,007,568
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CD274
CD274 molecule
severity
ISO
RGD
PMID:21494618
RGD:6893669
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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GC
GC vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid:
RGD
PMID:20093204
RGD:5509869
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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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 chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
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IGFBP3
insulin like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:15732261
RGD:1626118
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IL4R
interleukin 4 receptor
ISO
DNA:missense mutation:cds:p.Q551R (human)
RGD
PMID:11164908
RGD:1358313
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:14504963
RGD:13204808
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Primary progressive multiple sclerosis
ClinVar
PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28480171 PMID:28492532 PMID:32504279 More...
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:12926841
RGD:12801414
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
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ACKR3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624384
NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553
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ADAMTS14
ADAM metallopeptidase with thrombospondin type 1 motif 14
ISO
DNA:SNP:intron: C>T (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr14:73,565,158...73,657,257
Ensembl chr14:73,538,090...73,653,560
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APOA4
apolipoprotein A4
onset
ISO
protein:decreased expression:cerebrospinal fluid (human)
RGD
PMID:19383442
RGD:5685649
NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
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APOE
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15096402 PMID:34624384
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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CD36
CD36 molecule
ISO
RGD
PMID:20855355
RGD:6893496
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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CD80
CD80 molecule
ISO
protein:increased expression:blood, B cell
RGD
PMID:21310664
RGD:6893670
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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CSPG4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:10976643
RGD:5686865
NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
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CTSS
cathepsin S
ISO
mRNA, protein:increased expression:blood, leukocyte
RGD
PMID:21143385
RGD:5687146
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:intron:735T>C(human)
RGD
PMID:15218339
RGD:12903953
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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GRN
granulin precursor
disease_progression
ISO
protein:increased expression:cerebrospinal fluids
RGD
PMID:21613335
RGD:5509591
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:15153541
RGD:5128853
NCBI chr16:66,162,318...66,208,868
G
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis
ClinVar
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:21824468
RGD:5688780
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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KLC1
kinesin light chain 1
susceptibility
ISO
DNA:SNP:intron:56836G>C (rs8702) (human)
RGD
PMID:17999208
RGD:5684008
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MMP19
matrix metallopeptidase 19
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:11438176
RGD:1642025
NCBI chr 5:21,279,514...21,285,943
Ensembl chr 5:21,280,130...21,285,774
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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NEFH
neurofilament heavy chain
treatment
ISO
RGD
PMID:15222692
RGD:27226879
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
ISO
associated with relapse;protein:increased expression:serum (human) protein:increased expression:CSF (human)
RGD
PMID:30761586 PMID:33658322
RGD:127285025 RGD:127285027
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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NOD2
nucleotide binding oligomerization domain containing 2
disease_progression
ISO
DNA:SNPs: :rs3135499,rs2066842(human)
RGD
PMID:20595247
RGD:13204725
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOG
noggin
ISO
mRNA,protein:decreased expression:mononuclear cell"
RGD
PMID:21111488
RGD:12801480
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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S100B
S100 calcium binding protein B
ISO
protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:12076997
RGD:5508822
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SERPINE1
serpin family E member 1
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:10739162
RGD:13208510
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
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AQP4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 RGD:8696028
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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IL6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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VPS37A
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,644...4,988,074
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