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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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ifng
interferon gamma
disease_progression
ISO
protein:increased expression:T cell:
RGD
PMID:11063842
RGD:8157598
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Nefl
neurofilament, light polypeptide
disease_progression
ISO
protein:increased expresssion:serum (human)
RGD
PMID:31383792
RGD:127284875
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Mag
myelin-associated glycoprotein
ISO
protein:decreased expression:optic nerve
RGD
PMID:9820787
RGD:9685300
NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
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Zc3h12a
zinc finger CCCH type containing 12A
disease_progression
IMP
RGD
PMID:26320658
RGD:11534569
NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633
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Aqp4
aquaporin 4
ISO
RGD
PMID:20680636
RGD:5148026
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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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 chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
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Fanci
Fanconi anemia, 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 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
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Polg
polymerase (DNA directed), gamma
susceptibility
ISO IAGP
DNA:mutations:cds: 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 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P1073L (3218C>T) (human) DNA:missense mutations:cds:
ClinVar CTD OMIM RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 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:15689448 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:18484607 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:19881469 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301515 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:21943391 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: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:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 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:36689859 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
RGD:8694184 , RGD:15039298 , RGD:8694317 , RGD:8694284
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Polrmt
polymerase (RNA) mitochondrial (DNA directed)
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:25741868
NCBI chr10:79,571,951...79,582,436
Ensembl chr10:79,571,957...79,582,415
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
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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 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:12098510
RGD:8655962
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Nefh
neurofilament, heavy polypeptide
IEP
protein:decreased expression:spinal cord:
RGD
PMID:12742652
RGD:27226817
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Plp1
proteolipid protein (myelin) 1
ISO
human sequence peptide in a mouse model; associated with Herpesviridae infections
RGD
PMID:12811845
RGD:30296670
NCBI chr X:135,720,897...135,739,331
Ensembl chr X:135,723,420...135,740,482
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IMP
RGD
PMID:17983428
RGD:13208507
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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A2m
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:1710603
RGD:10046021
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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Adam17
a disintegrin and metallopeptidase domain 17
ISO
RGD
PMID:15878627
RGD:1559178
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Adam8
a disintegrin and metallopeptidase domain 8
IMP
RGD
PMID:9670863
RGD:2325244
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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Aif1
allograft inflammatory factor 1
ISO
protein:altered expression:spinal cord (rat)
RGD
PMID:19246105
RGD:2313022
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Akap12
A kinase anchor protein 12
ISO
mRNA,protein:increased expression:spinal cord
RGD
PMID:20155814
RGD:14348972
NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470
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Alox15
arachidonate 15-lipoxygenase
IMP
RGD
PMID:15328042
RGD:5509618
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Amigo2
adhesion molecule with Ig like domain 2
severity
IMP
RGD
PMID:28119027
RGD:14392778
NCBI chr15:97,141,955...97,145,168
Ensembl chr15:97,142,006...97,145,168
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Anxa1
annexin A1
ISO
protein:increased expression:brain, astrocyte, macrophage
RGD
PMID:9472682
RGD:2306942
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Apoe
apolipoprotein E
ISO
RGD
PMID:28578430
RGD:13703134
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Aqp4
aquaporin 4
disease_progression severity
IEP IMP ISO IDA
RGD
PMID:21056916 PMID:19660138 PMID:21157915 PMID:23707078
RGD:5148015 , RGD:5490116 , RGD:5490117 , RGD:8696030
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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B2m
beta-2 microglobulin
IMP
RGD
PMID:15837577
RGD:6482690
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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B4galt6
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
IEP
mRNA:increased expression:astrocyte
RGD
PMID:25216636
RGD:14390079
NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:23212569
RGD:10059360
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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C3
complement component 3
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:22320401
RGD:7175513
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C6
complement component 6
severity
ISO
RGD
PMID:11970970
RGD:625607
NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
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Cacna1b
calcium channel, voltage-dependent, N type, alpha 1B subunit
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
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Calca
calcitonin/calcitonin-related polypeptide, alpha
no_association
IMP
RGD
PMID:19563774
RGD:5684360
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
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Casp3
caspase 3
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp8
caspase 8
ISO
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Casp9
caspase 9
ISO
protein:increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cav3
caveolin 3
onset
ISO
Protein:increased expression:spinal cord, astrocyte
RGD
PMID:15925413
RGD:1582168
NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833
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Cblb
Casitas B-lineage lymphoma b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
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Ccl1
C-C motif chemokine ligand 1
ISO
mRNA:decreased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
C-C motif chemokine ligand 11
ISO
mRNA:increased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:spinal cord mRNA:decreased expression:lymph node mRNA:increased expression:optic chiasma (rat)
RGD
PMID:17666800 PMID:19865101 PMID:11241588
RGD:2307114 , RGD:4145472 , RGD:8548888
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
ISO
mRNA:increased expression:spinal cord
RGD
PMID:17666800
RGD:2307114
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl5
C-C motif chemokine ligand 5
IEP ISO
protein:increased expression:brain (mouse) mRNA:increased expression:spinal cord
RGD
PMID:15833367 PMID:17666800
RGD:4890027 , RGD:2307114
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:14655765 PMID:14512166
RGD:5688165 , RGD:5688167
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9655467
RGD:632391
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
IDA
RGD
PMID:15034073
RGD:6893394
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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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 chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd28
CD28 antigen
ISO
RGD
PMID:16061730
RGD:2307203
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd4
CD4 antigen
treatment
ISO
protein:decreased expression:T lymphocyte:
RGD
PMID:9138014 PMID:3097071
RGD:10058963 , RGD:10058968
NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
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Cd80
CD80 antigen
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cd86
CD86 antigen
resistance disease_progression
IMP ISO
protein:increased expression:spinal cord, blood vessel (rat)
RGD
PMID:10477557 PMID:20451260
RGD:4892227 , RGD:4892207
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Ciita
class II transactivator
ISO
RGD
PMID:15821736
RGD:1358146
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:21107918 PMID:7541143 PMID:10650887
RGD:6483335 , RGD:6483353 , RGD:6483351
NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
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Comt
catechol-O-methyltransferase
treatment
IMP
RGD
PMID:25242632
RGD:13450949
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:22768796
RGD:7243111
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Cspg4
chondroitin sulfate proteoglycan 4
IEP ISO
protein:increased expression:spinal cord
RGD
PMID:21679768 PMID:20162860
RGD:5686852 , RGD:5686863
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Ctsc
cathepsin C
ISO
RGD
PMID:843913
RGD:1599653
NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096
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Ctss
cathepsin S
IMP
RGD
PMID:21439785
RGD:5686915
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16053521
RGD:4891973
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:16053521 PMID:24706865
RGD:4891973 , RGD:9491767
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcr2
C-X-C motif chemokine receptor 2
IMP
RGD
PMID:19616545
RGD:7257694
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:21038468
RGD:5135506
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Dab2
disabled 2, mitogen-responsive phosphoprotein
disease_progression
ISO
RGD
PMID:21890121
RGD:7243155
NCBI chr15:6,329,269...6,470,196
Ensembl chr15:6,329,269...6,470,193
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Dlk1
delta like non-canonical Notch ligand 1
IDA
RGD
PMID:24676147
RGD:150520045
NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262
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Dll1
delta like canonical Notch ligand 1
IMP
RGD
PMID:17947672
RGD:6482235
NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
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Dll4
delta like canonical Notch ligand 4
ameliorates
IMP
RGD
PMID:21813770
RGD:155663662
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
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Dusp10
dual specificity phosphatase 10
IMP
RGD
PMID:15306813
RGD:7775013
NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
disease_progression
ISO
RGD
PMID:19524108
RGD:9685491
NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18382691
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Ern1
endoplasmic reticulum to nucleus signalling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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Esr2
estrogen receptor 2 (beta)
IMP IDA
RGD
PMID:21565615 PMID:21182085
RGD:5508732 , RGD:5508735
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:10944459
RGD:12903984
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fcgr3
Fc receptor, IgG, low affinity III
IMP
RGD
PMID:12576552
RGD:5508383
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fgf2
fibroblast growth factor 2
ISO
mRNA:increased expression:spinal cord
RGD
PMID:8929896 PMID:9814819
RGD:8655647 , RGD:9831448
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Flt1
FMS-like tyrosine kinase 1
treatment
ISO
RGD
PMID:18721816
RGD:10402153
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27742544
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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Ghrh
growth hormone releasing hormone
resistance
IMP
RGD
PMID:21846799
RGD:5687168
NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426
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Ghrl
ghrelin
treatment
ISO
RGD
PMID:19620309
RGD:12905041
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Gjc2
gap junction protein, gamma 2
IEP
protein:decreased expression:white matter of spinal cord, gap junction (mouse)
RGD
PMID:22461072
RGD:13208593
NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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Gli1
GLI-Kruppel family member GLI1
IEP
RGD
PMID:18991353
RGD:12801440
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Glud1
glutamate dehydrogenase 1
IEP
mRNA, protein:decreased expression:spinal cord
RGD
PMID:9145307
RGD:6484657
NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
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Gpx3
glutathione peroxidase 3
ISO
RGD
PMID:22320401
RGD:7175513
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
RGD
PMID:18050272 PMID:9834080 PMID:16723470
RGD:5147622 , RGD:5147666 , RGD:5147639
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:16723470 PMID:9834080 PMID:16194572
RGD:5147639 , RGD:5147666 , RGD:5147647
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea
histocompatibility 2, class II antigen E alpha
ISO
RGD
PMID:8676084
RGD:5490166
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
G
H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
RGD
PMID:16194572
RGD:5147647
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Havcr2
hepatitis A virus cellular receptor 2
IMP ISO
mRNA:increased expression:spinal cord:
RGD
PMID:11823861 PMID:15913792
RGD:9686086 , RGD:9686113
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
IMP ISO
RGD
PMID:17085013 PMID:14691063
RGD:5508469 , RGD:5508476
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Ifnb1
interferon beta 1, fibroblast
ameliorates treatment exacerbates
IDA ISO
RGD
PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868
RGD:401854237 , RGD:401854247 , RGD:401854246 , RGD:5147399
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Ifng
interferon gamma
disease_progression treatment
IMP
RGD
PMID:15661899 PMID:22896638
RGD:7987912 , RGD:10755692
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:7541143
RGD:6483353
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23872438
RGD:7364993
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il10ra
interleukin 10 receptor, alpha
ISO
RGD
PMID:12620647
RGD:2316323
NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447
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Il12a
interleukin 12a
IMP
RGD
PMID:12471147
RGD:724447
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il12b
interleukin 12b
ISO
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473
RGD:4831840
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il13
interleukin 13
severity
IMP ISO
RGD
PMID:18250480 PMID:7523520
RGD:5684366 , RGD:5684367
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il16
interleukin 16
ISO
RGD
PMID:17641011
RGD:5024940
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a
interleukin 17A
treatment
ISO IDA IMP
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473 PMID:16200068 PMID:20003332 PMID:16785554
RGD:4831840 , RGD:9212317 , RGD:4888522 , RGD:4889113
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
ISO
mRNA:increased expression:spinal cord
RGD
PMID:9834127 PMID:9846824
RGD:4889543 , RGD:4889542
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il18r1
interleukin 18 receptor 1
ISO
mRNA:increased expression:lymph node
RGD
PMID:19269041
RGD:2311529
NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7593560
RGD:8551836
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il21
interleukin 21
ISO
RGD
PMID:18997868
RGD:5147399
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il21r
interleukin 21 receptor
no_association disease_progression
IMP
RGD
PMID:18546146 PMID:18353312
RGD:6892939 , RGD:6892940
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
G
Il22
interleukin 22
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
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Il27
interleukin 27
IEP
protein:decreased expression:blood serum (mouse)
RGD
PMID:33403844
RGD:126790527
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il2ra
interleukin 2 receptor, alpha chain
ISO
RGD
PMID:19269041
RGD:2311529
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il4
interleukin 4
treatment
IMP ISO
RGD
PMID:18239607 PMID:1383385
RGD:7829778 , RGD:8142395
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO IMP
protein:increased expression:oligodendrocytes (rat)
RGD
PMID:9358769 PMID:23322593
RGD:2307412 , RGD:12791289
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Itga4
integrin alpha 4
treatment susceptibility
ISO
rat bone marrow cells in a mouse model
RGD
PMID:12626659 PMID:18722022
RGD:9698418 , RGD:9698436
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Jag1
jagged 1
IMP
RGD
PMID:17947672
RGD:6482235
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jak2
Janus kinase 2
IDA
RGD
PMID:22066025
RGD:6483041
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:25012120
RGD:11533939
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Kdr
kinase insert domain protein receptor
IMP
RGD
PMID:19233483
RGD:5684404
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kit
KIT proto-oncogene receptor tyrosine kinase
IMP
RGD
PMID:25972476
RGD:12910744
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Lrp1
low density lipoprotein receptor-related protein 1
IEP
protein:increased expression:cerebellum, spinal cord
RGD
PMID:19299462
RGD:13800552
NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
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Lta
lymphotoxin A
ISO
mRNA:increased expression:spinal cord mRNA:increased expression:brain
RGD
PMID:7593556 PMID:9184655
RGD:1625038 , RGD:4143220
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mapt
microtubule-associated protein tau
treatment
ISO
RGD
PMID:15494405
RGD:1358431
NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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Mbp
myelin basic protein
ISO
human sequence peptide in a rat model; associated with Herpesviridae infections CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 PMID:12811845 More...
RGD:7349334 , RGD:30296670
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mdk
midkine
ISO
RGD
PMID:9814819
RGD:9831448
NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642
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Mir146
microRNA 146
IEP
mRNA:increased expression:spinal cord (mouse)
RGD
PMID:22660635
RGD:155663483
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Mir23b
microRNA 23b
treatment
IEP IMP
mRNA:decreased expression:spinal cord (mouse)
RGD
PMID:22660635 PMID:22660635
RGD:155663483 , RGD:155663483
NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19922364
RGD:2325703
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:9549496
RGD:8547909
NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586
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Mmp9
matrix metallopeptidase 9
treatment
ISO IEP
protein:increased expression:multiple tissues
RGD
PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566
RGD:8547909 , RGD:13204801 , RGD:13204762 , RGD:8547936
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mobp
myelin-associated oligodendrocytic basic protein
IDA
RGD
PMID:10623862
RGD:27226694
NCBI chr 9:119,978,740...120,010,554
Ensembl chr 9:119,978,773...120,010,550
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Mog
myelin oligodendrocyte glycoprotein
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 PMID:18667803 PMID:21068375 PMID:21317386 PMID:21341682 PMID:23360710 PMID:23547115 PMID:23639249 PMID:30661753 PMID:10384097 PMID:14624757 PMID:14624757 PMID:12799014 More...
RGD:9685372 , RGD:9685375 , RGD:9685375 , RGD:9685373
NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
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Mt1
metallothionein 1
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
G
Mt2
metallothionein 2
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
G
Mt3
metallothionein 3
IEP
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774
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Ncam1
neural cell adhesion molecule 1
ISO
protein:decreased expression:hippocampus
RGD
PMID:17064783
RGD:40924670
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:cerebrospinal fluid, spinal cord
RGD
PMID:16182933
RGD:2299007
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
G
Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19910389
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngf
nerve growth factor
ISO
protein, mRNA:increased expression:thalamus and cortex, CNS (rat)
RGD
PMID:8866783
RGD:5508386
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
severity
IMP ISO
mRNA:increased expression:central nervous system (rat)
RGD
PMID:16519950 PMID:8866783
RGD:5508312 , RGD:5508386
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nos2
nitric oxide synthase 2, inducible
IMP
RGD
PMID:21857957
RGD:5509069
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nr1h2
nuclear receptor subfamily 1, group H, member 2
IMP
RGD
PMID:21266776
RGD:6480877
NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IMP
RGD
PMID:17322387
RGD:4892331
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
mRNA:increased expression:brain subventricular zone:
RGD
PMID:15589512
RGD:5684777
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Olig1
oligodendrocyte transcription factor 1
treatment
IEP
RGD
PMID:24941845
RGD:40902822
NCBI chr16:91,066,657...91,068,827
Ensembl chr16:91,066,660...91,068,821
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Olig2
oligodendrocyte transcription factor 2
treatment
IEP ISO
RGD
PMID:24941845 PMID:29682587
RGD:40902822 , RGD:40902863
NCBI chr16:91,016,745...91,025,567
Ensembl chr16:91,022,345...91,025,565
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Pdcd1
programmed cell death 1
susceptibility
IMP
RGD
PMID:24648472
RGD:40818258
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pdgfb
platelet derived growth factor, B polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
treatment
ISO
RGD
PMID:16042218
RGD:11080975
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
IMP
RGD
PMID:20303183
RGD:6482686
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Plp1
proteolipid protein (myelin) 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21068375 PMID:24941845
RGD:40902822
NCBI chr X:135,720,897...135,739,331
Ensembl chr X:135,723,420...135,740,482
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261635
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Prf1
perforin 1 (pore forming protein)
IMP
RGD
PMID:20708278
RGD:6482806
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Prkaa1
protein kinase, AMP-activated, alpha 1 catalytic subunit
severity
IMP
RGD
PMID:19486896
RGD:6484540
NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
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Ptgs1
prostaglandin-endoperoxide synthase 1
IEP ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:microglia, macrophage,
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP ISO
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:endothelial cell
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptn
pleiotrophin
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:9814819
RGD:9831448
NCBI chr 6:36,691,863...36,787,114
Ensembl chr 6:36,691,864...36,787,155
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Qki
quaking, KH domain containing RNA binding
ISO
RGD
PMID:22740327
RGD:10045997
NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783
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Rangrf
RAN guanine nucleotide release factor
ISO
RGD
PMID:8557821
RGD:6771380
NCBI chr11:68,863,310...68,866,011
Ensembl chr11:68,863,310...68,866,011
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Rhoa
ras homolog family member A
severity
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IEP
mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:
RGD
PMID:11733372
RGD:13208549
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Shh
sonic hedgehog
ISO IEP
RGD
PMID:15892298 PMID:18991353
RGD:12801423 , RGD:12801440
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23547115
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slpi
secretory leukocyte peptidase inhibitor
treatment
IDA
RGD
PMID:22436018
RGD:9999395
NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015
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Sncb
synuclein, beta
ISO
RGD
PMID:12496452
RGD:730073
NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408
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Srsf9
serine and arginine-rich splicing factor 9
treatment
ISO
RGD
PMID:20616573
RGD:11040805
NCBI chr 5:115,465,236...115,471,139
Ensembl chr 5:115,465,236...115,471,139
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Stat1
signal transducer and activator of transcription 1
IDA
RGD
PMID:22066025
RGD:6483041
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Stat3
signal transducer and activator of transcription 3
IDA IMP
RGD
PMID:22066025 PMID:17878325
RGD:6483041 , RGD:6892946
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:11240014
RGD:7207888
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:increased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfb2
transforming growth factor, beta 2
ISO
mRNA, protein:decreased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Timp3
tissue inhibitor of metalloproteinase 3
ISO
protein:increased expression:spinal cord
RGD
PMID:15878627
RGD:1559178
NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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Tlr2
toll-like receptor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:spinal cord
RGD
PMID:18644848
RGD:2312575
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:11421579
RGD:12904661
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:12196270
RGD:1580348
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
treatment
IDA IMP
RGD
PMID:21318047 PMID:21287548
RGD:8158064 , RGD:13210791
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:decreased expression:Cerebrospinal Fluid: mRNA,protein:decreased expression:spinal cord:
RGD
PMID:12387457 PMID:17083617 PMID:17083617
RGD:634258 , RGD:7421596 , RGD:7421596
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vip
vasoactive intestinal polypeptide
IMP
RGD
PMID:20978211
RGD:5685386
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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A2m
alpha-2-macroglobulin
ISO
RGD
PMID:11498265
RGD:1549857
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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Acan
aggrecan
ISO
protein:altered expression:central nervous system, plaque (human)
RGD
PMID:11764092
RGD:2315836
NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
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Ache
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:20714168
RGD:5686885
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agt
angiotensinogen
ISO
protein:decreased expression:brain,astrocyte:
RGD
PMID:17715340
RGD:13432361
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Aim2
absent in melanoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:173,177,105...173,293,606
Ensembl chr 1:173,178,445...173,293,606
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Apoa1
apolipoprotein A-I
ISO
protein:increased expression: serum
RGD
PMID:20350318
RGD:5508215
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoc2
apolipoprotein C2
ISO
RGD
PMID:10335523
RGD:1358408
NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15048896 PMID:15118671
RGD:1331525
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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B4galt5
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr 2:167,140,364...167,191,155
Ensembl chr 2:167,140,364...167,191,103
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B4galt6
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr18:20,817,656...20,879,461
Ensembl chr18:20,817,656...20,879,461
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20122907
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Bcl2l2
BCL2-like 2
ISO
mRNA:decreased expression:brain:
RGD
PMID:24270187
RGD:14394512
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
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Bdnf
brain derived neurotrophic factor
onset
ISO
protein:decreased expression:serum
RGD
PMID:20656764
RGD:5684915
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Cacna1b
calcium channel, voltage-dependent, N type, alpha 1B subunit
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Cav1
caveolin 1, caveolae protein
ISO
DNA:repeats, haplotypes:multiple
RGD
PMID:19828204
RGD:8661778
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Cblb
Casitas B-lineage lymphoma b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
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Ccl1
C-C motif chemokine ligand 1
ISO
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl12
C-C motif chemokine ligand 12
ISO
DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226
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Ccl2
C-C motif chemokine ligand 2
ISO
DNA:SNPs, haplotype
RGD
PMID:19865101
RGD:4145472
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:brain, frontal cortex (human)
RGD
PMID:11091283
RGD:4890028
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccl7
C-C motif chemokine ligand 7
ISO
mRNA,protein:increased expression:brain DNA:polymorphism:promoter
RGD
PMID:9655469 PMID:12127674
RGD:6483814 , RGD:6483818
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:21427490
RGD:6892919
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human) ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression protein:increased expression:blood, cerebrospinal fluid
ClinVar RGD
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:28492532 PMID:12451219 PMID:12111306 More...
RGD:1358460 , RGD:8551829
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd24a
CD24a antigen
ISO
RGD
PMID:14657362
RGD:1358462
NCBI chr10:43,454,433...43,460,261
Ensembl chr10:43,454,280...43,460,261
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Cd28
CD28 antigen
ISO
DNA:SNP:promoter:-372G>A (human)
RGD
PMID:14975605
RGD:1358478
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd40
CD40 antigen
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD RGD
PMID:19525955 PMID:20634952 PMID:20190274
RGD:5490971 , RGD:5490975
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cd46
CD46 antigen, complement regulatory protein
ISO
RGD
PMID:21177319
RGD:6483460
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
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Cd6
CD6 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953 PMID:24076602
NCBI chr19:10,766,703...10,807,427
Ensembl chr19:10,766,705...10,807,422
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Cd86
CD86 antigen
susceptibility
ISO
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
RGD
PMID:26531698
RGD:11354964
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cd96
CD96 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr16:45,856,015...45,940,611
Ensembl chr16:45,856,020...45,940,614
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Cdk17
cyclin dependent kinase 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr10:92,996,492...93,086,956
Ensembl chr10:92,996,737...93,102,933
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Cfh
complement component factor h
no_association
ISO
RGD
PMID:21618592
RGD:5684555
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Ciita
class II transactivator
susceptibility no_association
ISO
DNA:polymorphism:exon:c.1632G>C, rs4774 (human) DNA:polymorphism:promoter:-168A>G (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD
PMID:21653641 PMID:15821736 PMID:16426246
RGD:5491175 , RGD:1358146 , RGD:5491189
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Cldn11
claudin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25911099
NCBI chr 3:31,204,069...31,218,475
Ensembl chr 3:31,204,069...31,218,473
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Clec16a
C-type lectin domain family 16, member A
ISO
DNA:polymorphism:intron:g.194570G>A, rs7184083 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18946483 PMID:19525955 PMID:21653641
RGD:5491175
NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
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Cmah
cytidine monophospho-N-acetylneuraminic acid hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:24,511,387...24,661,272
Ensembl chr13:24,511,387...24,661,360
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Cmpk2
cytidine/uridine monophosphate kinase 2
ISO
mRNA:altered expression:PMN cell (human)
RGD
PMID:20136355
RGD:5133255
NCBI chr12:26,519,121...26,529,836
Ensembl chr12:26,519,203...26,529,836
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:19473295 PMID:18676363
RGD:6483339 , RGD:6483346
NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12876144
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cntf
ciliary neurotrophic factor
onset
ISO
RGD
PMID:11890844
RGD:1626112
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
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Col1a1
collagen, type I, alpha 1
ISO
mRNA:increased expression:brain
RGD
PMID:20456365
RGD:5688302
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Cst3
cystatin C
IEP ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:12589965
RGD:5686392 , RGD:5686394
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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:19740340 PMID:17942509
RGD:1358538 , RGD:7411672 , RGD:2301975
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
G
Ctsb
cathepsin B
IEP ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:11134381
RGD:5686392 , RGD:5686395
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Ctsh
cathepsin H
IEP
RGD
PMID:17086443
RGD:5686392
NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
G
Ctsl
cathepsin L
IEP
RGD
PMID:17086443
RGD:5686392
NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
G
Cxcl15
C-X-C motif chemokine ligand 15
ISO
protein:increased expression:serum
RGD
PMID:20138139
RGD:5134999
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759
G
Dusp28
dual specificity phosphatase 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:92,834,711...92,836,342
Ensembl chr 1:92,834,703...92,836,157
G
Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12646761
RGD:8661710
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
G
Ern1
endoplasmic reticulum to nucleus signalling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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 chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasl
Fas ligand
ISO
DNA:repeat:promoter:g.-46(CA)11-15 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31068361 PMID:11438180
RGD:1358622
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fcgr4
Fc receptor, IgG, low affinity IV
disease_progression
ISO
protein:increased expression:gamma-delta T cell
RGD
PMID:18155780
RGD:5508375
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
G
Gabra3
gamma-aminobutyric acid type A receptor subunit alpha 3
ISO
DNA:repeat::(CA)11-16 (human)
RGD
PMID:9561979
RGD:1358628
NCBI chr X:71,476,282...71,700,525
Ensembl chr X:71,476,287...71,700,454
G
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:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990
RGD:5509885 , RGD:5509923 , RGD:5509922 , RGD:5509887
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
G
Gli1
GLI-Kruppel family member GLI1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Grm8
glutamate receptor, metabotropic 8
ISO
protein:increased expression:astrocyte, microglia, macrophage
RGD
PMID:15589052
RGD:6771187
NCBI chr 6:27,275,120...28,135,094
Ensembl chr 6:27,275,118...28,135,177
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Grn
granulin
ISO
protein:increased expression:macrophage, microglia
RGD
PMID:21613335
RGD:5509591
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
G
Gstm1
glutathione S-transferase, mu 1
disease_progression susceptibility onset
ISO
DNA:deletion: : DNA:deletion: : (human) DNA:deletion:: (human)
RGD
PMID:10680782 PMID:17437619 PMID:23932298
RGD:5490267 , RGD:12792249 , RGD:12792225
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstm3
glutathione S-transferase, mu 3
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
G
Gstm5
glutathione S-transferase, mu 5
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
G
Gstp1
glutathione S-transferase, pi 1
disease_progression
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10680782
RGD:5490267
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
no_association
ISO
DNA:deletion:: (human)
RGD
PMID:23932298 PMID:10680782
RGD:12792225 , RGD:5490267
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21741664
RGD:5147555
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-DQB1*06 (human)
OMIM CTD RGD
PMID:21741664 PMID:21908482 PMID:20463743
RGD:5147555 , RGD:7421588 , RGD:5147658
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea
histocompatibility 2, class II antigen E alpha
ISO
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter (human)
CTD RGD
PMID:17660530 PMID:19834503 PMID:10527398
RGD:5490202 , RGD:5490204
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
G
H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility onset
ISO
DNA:polymorphism: :HLA-DRB*1501 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphism: :HLA-DRB1*0801 (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)
OMIM CTD RGD
PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 PMID:21440682 PMID:21664963 More...
RGD:5147555 , RGD:5147580 , RGD:5147573 , RGD:5147564 , RGD:5147559
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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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 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:cytoplasm:
RGD
PMID:20037577
RGD:9590131
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
G
Hsp90ab1
heat shock protein 90 alpha (cytosolic), class B member 1
ISO
RGD
PMID:14688203
RGD:5686803
NCBI chr17:45,878,704...45,884,187
Ensembl chr17:45,878,701...45,884,197
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Hspa8
heat shock protein 8
ISO
protein: increased expression: cerebrospinal fluid
RGD
PMID:16303141
RGD:6480236
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifnb1
interferon beta 1, fibroblast
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 PMID:15389896 More...
RGD:401854232
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
G
Ifng
interferon gamma
susceptibility
ISO
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:9818947
RGD:1358738
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Igf2
insulin-like growth factor 2
ISO
protein:increased expression:macrophage
RGD
PMID:10417663
RGD:5510017
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23517930
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il12a
interleukin 12a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il13
interleukin 13
severity
ISO
protein:increased expression:serum protein:increased expression:cerebrospinal fluid
RGD
PMID:22031307 PMID:21677024
RGD:5684368 , RGD:8549589
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:21455110
RGD:8698672
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il1b
interleukin 1 beta
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:15210533 PMID:25458313 PMID:10025794
RGD:1358741
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Il21r
interleukin 21 receptor
ISO
DNA:polymorphisms: :
RGD
PMID:20072140 PMID:21281812
RGD:6892695 , RGD:6892963
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
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Il2ra
interleukin 2 receptor, alpha chain
ISO
DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193
RGD:2311526
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il4
interleukin 4
onset
ISO
DNA:repeat:intron 3:allele B1 (human)
RGD
PMID:9184650
RGD:1358745
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra
interleukin 4 receptor, alpha
ISO
RGD
PMID:14712310
RGD:4890395
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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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:12791288 , RGD:12792202 , RGD:11079567
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17660816
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3
CTD ClinVar
PMID:17660530 PMID:17660816 PMID:17660817 PMID:19525955 PMID:21664875 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:28436970 PMID:28492532 PMID:32576985 PMID:32765500 More...
NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
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Irf5
interferon regulatory factor 5
susceptibility
ISO
DNA:SNPs: :rs3807306, rs4728142 (human)
RGD
PMID:25392335 PMID:20861862
RGD:11055911 , RGD:40924643
NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
G
Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Jag1
jagged 1
disease_progression
ISO
RGD
PMID:20805994 PMID:16934875
RGD:6482233 , RGD:6482240
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jarid2
jumonji and AT-rich interaction domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24070676
NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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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 PMID:18997785
RGD:12738463 , RGD:12738462
NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
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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 chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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Klhl6
kelch-like 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr16:19,765,242...19,801,766
Ensembl chr16:19,765,246...19,801,787
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Klk6
kallikrein related-peptidase 6
IEP
RGD
PMID:11802715
RGD:2314867
NCBI chr 7:43,473,967...43,481,219
Ensembl chr 7:43,473,923...43,481,454
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Lrch1
leucine-rich repeats and calponin homology (CH) domain containing 1
IAGP
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
MouseDO
NCBI chr14:74,992,113...75,185,447
Ensembl chr14:74,992,115...75,185,316
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Lrrc8c
leucine rich repeat containing 8 family, member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 5:105,666,850...105,760,884
Ensembl chr 5:105,667,254...105,760,884
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Mag
myelin-associated glycoprotein
ISO
RGD
PMID:2419505
RGD:9685292
NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
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Mbp
myelin basic protein
ISO
RGD
PMID:1691612
RGD:1358488
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mcam
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024
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Mmp12
matrix metallopeptidase 12
susceptibility
ISO
DNA:SNP:promoter:-82A>G (human)
RGD
PMID:19628284
RGD:13204795
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp9
matrix metallopeptidase 9
no_association susceptibility
ISO
mRNA:increased expression:blood, mononuclear cell DNA:SNP, repeat:promoter:-1562C>T (human) DNA:repeat, SNP:promoter DNA:SNP:promoter:-1562C>T (human)
RGD
PMID:23401127 PMID:20471697 PMID:10713364 PMID:19628284
RGD:13204754 , RGD:13204848 , RGD:13204826 , RGD:13204795
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mog
myelin oligodendrocyte glycoprotein
ISO
RGD
PMID:17142321
RGD:9685374
NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
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Mphosph9
M-phase phosphoprotein 9
susceptibility
ISO
DNA:snp:intron:122222678G>T rs1790100 (human)
RGD
PMID:19879194
RGD:2316985
NCBI chr 5:124,389,022...124,466,001
Ensembl chr 5:124,389,022...124,466,035
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mt-Atp6
ATP synthase 6, mitochondrial
ISO
DNA:transition:cds:m.9055A>G (human) DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD
PMID:18708297 PMID:17619138
RGD:5490259 , RGD:5490263
NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
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mt-Atp8
ATP synthase 8, mitochondrial
ISO
DNA:point mutation: :m.8406C>T (human)
RGD
PMID:17619138
RGD:5490263
NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
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mt-Nd1
NADH dehydrogenase 1, mitochondrial
ISO
DNA:amplification:cds:cerebral gray matter (human)
RGD
PMID:18566918
RGD:5490252
NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
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mt-Nd2
NADH dehydrogenase 2, mitochondrial
ISO
DNA:SNP::m.4917A>G (human)
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951
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Nabp1
nucleic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 1:51,504,127...51,517,634
Ensembl chr 1:51,505,021...51,517,584
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
RGD
PMID:18682780
RGD:6482255
NCBI chr 1:171,062,426...171,078,956
Ensembl chr 1:171,062,422...171,078,957
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Nectin2
nectin cell adhesion molecule 2
severity no_association
ISO
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple
CTD RGD
PMID:16738668 PMID:16738668 PMID:17376543
RGD:6767558 , RGD:6767565
NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408
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Nedd9
neural precursor cell expressed, developmentally down-regulated gene 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:41,463,392...41,640,836
Ensembl chr13:41,463,057...41,640,838
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Nefh
neurofilament, heavy polypeptide
severity
ISO
RGD
PMID:16764346
RGD:27226808
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
disease_progression
ISO
protein:increased expresssion:serum (human) protein:increased expression:serum (human)
RGD
PMID:31383792 PMID:33317883
RGD:127284875 , RGD:127285024
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein:increased expression:reactive astrocytes, microglia/macrophages (human)
RGD
PMID:11829348
RGD:5508481
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nono
non-POU-domain-containing, octamer binding protein
ISO
mRNA:altered expression:peripheral blood mononuclear cell (human)
RGD
PMID:29100048
RGD:156420155
NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197
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Notch4
notch 4
ISO
DNA: snps: cds: rs422951
RGD
PMID:21654846
RGD:6480692
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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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 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
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P2rx7
purinergic receptor P2X, ligand-gated ion channel, 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17728465
NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495
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Pdcd1
programmed cell death 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:12402038 PMID:15912506
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Phactr2
phosphatase and actin regulator 2
ISO
DNA: snp: : rs1015340
RGD
PMID:20546594
RGD:6483093
NCBI chr10:13,083,461...13,350,266
Ensembl chr10:13,083,461...13,350,156
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
protein:increased expression:plasma
RGD
PMID:22246459
RGD:6482783
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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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 chr11:98,277,449...98,279,006
Ensembl chr11:98,277,276...98,279,007
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Polg
polymerase (DNA directed), gamma
ISO
DNA:missense mutations:cds:
RGD
PMID:20837861
RGD:8694283
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2843795 PMID:9664777
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Prf1
perforin 1 (pore forming protein)
IMP IAGP ISO
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) protein:increased expression:blood, T cell
MouseDO RGD
PMID:19680139 PMID:20921521 PMID:22001684
RGD:6482805 , RGD:6482820 , RGD:6482817
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:white matter,astrocyte:
RGD
PMID:19716418
RGD:10412736
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
ISO
RGD
PMID:20174631
RGD:6483446
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
no_association
ISO
DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:15934099
RGD:6484550
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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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 chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446
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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 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704
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Rgma
repulsive guidance molecule family member A
ISO
DNA:SNPs:intron: (rs997941, rs34925346) (human)
RGD
PMID:20072140
RGD:6892695
NCBI chr 7:73,025,268...73,069,647
Ensembl chr 7:73,025,257...73,069,647
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Rhoa
ras homolog family member A
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Rnf19a
ring finger protein 19A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr15:36,240,080...36,283,293
Ensembl chr15:36,240,079...36,283,293
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Rnf217
ring finger protein 217
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
NCBI chr10:31,377,883...31,485,721
Ensembl chr10:31,369,189...31,485,180
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Sele
selectin, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Sh2d2a
SH2 domain containing 2A
susceptibility
ISO
DNA:repeat:promoter:-341(GA)13-33 (human) DNA:polymorphism:promoter
RGD
PMID:18554728 PMID:11528519
RGD:2298871 , RGD:1358573
NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029
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Shh
sonic hedgehog
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
no_association
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD RGD
PMID:16597321 PMID:18973068 PMID:15584484
RGD:5684937 , RGD:5684960
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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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 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Sys1
SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility no_association
ISO
DNA:synonymous mutation: : DNA:SNPs:CDs:p.V379I, A565T(human)
RGD
PMID:7759306 PMID:7797617 PMID:7928442
RGD:6482279 , RGD:6482281 , RGD:6482280
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cerebrospinal fluid, mononuclear cell
RGD
PMID:18644848
RGD:2312575
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
disease_progression no_association
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:8964914 PMID:9270614 PMID:8887999
RGD:7401237 , RGD:12904657 , RGD:12904068
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
susceptibility
ISO
DNA:SNP:intron: (rs1800693) (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868 PMID:28492532 PMID:22801493 More...
RGD:8661741
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfsf14
tumor necrosis factor (ligand) superfamily, member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr17:57,496,437...57,501,182
Ensembl chr17:57,496,492...57,501,177
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Tnfsf9
tumor necrosis factor (ligand) superfamily, member 9
ISO
protein:increased expression:plasma, monocyte (human)
RGD
PMID:16970683
RGD:2317352
NCBI chr17:57,412,113...57,414,757
Ensembl chr17:57,412,325...57,414,757
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Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:34,831,762...34,851,784
Ensembl chr 2:34,831,762...34,851,784
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
no_association susceptibility
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:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 PMID:21664963 More...
RGD:1331525 , RGD:11530654 , RGD:13210790 , RGD:11353119 , RGD:5147559
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vhl
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:36,205,233...36,224,491
Ensembl chr 3:36,205,166...36,224,491
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Aqp4
aquaporin 4
disease_progression
ISO IDA IMP IEP
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:22271321 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696034 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Cd59b
CD59b antigen
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nefh
neurofilament, heavy polypeptide
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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S100b
S100 protein, beta polypeptide, neural
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Aqp4
aquaporin 4
ISO
RGD
PMID:17468440
RGD:8698645
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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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 chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
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Bche
butyrylcholinesterase
ISO
RGD
PMID:20122907
RGD:5687690
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Cd274
CD274 antigen
severity
IMP
RGD
PMID:21494618
RGD:6893669
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Gc
vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid:
RGD
PMID:20093204
RGD:5509869
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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Grn
granulin
susceptibility
ISO
protein:increased expression:cerebrospinal fluids DNA:SNPs: :rs2879096, rs4792938(human)
RGD
PMID:21613335 PMID:20463744
RGD:5509591 , RGD:5509596
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
severity
ISO
DNA:polymorphism: :HLA-DQB1*0602 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
severity
ISO
DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:15732261
RGD:1626118
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Il4ra
interleukin 4 receptor, alpha
ISO
DNA:missense mutation:cds:p.Q551R (human)
RGD
PMID:11164908
RGD:1358313
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:14504963
RGD:13204808
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Polg
polymerase (DNA directed), gamma
ISO
ClinVar Annotator: match by term: Primary progressive multiple sclerosis
ClinVar
PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28480171 PMID:28492532 PMID:32504279 More...
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Shh
sonic hedgehog
ISO
RGD
PMID:12926841
RGD:12801414
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624384
NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473
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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 chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217
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Apoa4
apolipoprotein A-IV
onset
ISO
protein:decreased expression:cerebrospinal fluid (human)
RGD
PMID:19383442
RGD:5685649
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15096402 PMID:34624384
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Cd36
CD36 molecule
ISO
RGD
PMID:20855355
RGD:6893496
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd80
CD80 antigen
ISO
protein:increased expression:blood, B cell
RGD
PMID:21310664
RGD:6893670
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:10976643
RGD:5686865
NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154
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Ctss
cathepsin S
ISO
mRNA, protein:increased expression:blood, leukocyte
RGD
PMID:21143385
RGD:5687146
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:intron:735T>C(human)
RGD
PMID:15218339
RGD:12903953
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Grn
granulin
disease_progression
ISO
protein:increased expression:cerebrospinal fluids
RGD
PMID:21613335
RGD:5509591
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:15153541
RGD:5128853
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Hspa8
heat shock protein 8
ISO
protein: increased expression
RGD
PMID:21824468
RGD:5688780
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
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Klc1
kinesin light chain 1
susceptibility
ISO
DNA:SNP:intron:56836G>C (rs8702) (human)
RGD
PMID:17999208
RGD:5684008
NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278
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Mmp19
matrix metallopeptidase 19
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:11438176
RGD:1642025
NCBI chr10:128,626,779...128,636,696
Ensembl chr10:128,626,779...128,636,693
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nefh
neurofilament, heavy polypeptide
treatment
ISO
RGD
PMID:15222692
RGD:27226879
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
associated with relapse;protein:increased expression:serum (human) protein:increased expression:CSF (human)
RGD
PMID:30761586 PMID:33658322
RGD:127285025 , RGD:127285027
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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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 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Nog
noggin
ISO
mRNA,protein:decreased expression:mononuclear cell"
RGD
PMID:21111488
RGD:12801480
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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S100b
S100 protein, beta polypeptide, neural
ISO
protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:12076997
RGD:5508822
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:10739162
RGD:13208510
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Timp1
tissue inhibitor of metalloproteinase 1
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Vps37a
vacuolar protein sorting 37A
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all