Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autoimmune disease of the nervous system
go back to main search page
Accession:DOID:438 term browser browse the term
Definition:An autoimmune disease affecting the nervous system. (DO)
Synonyms:exact_synonym: Nervous System Immune Diseases;   autoimmune disorders of the nervous system;   autoimmune nervous system diseases;   autoimmune nervous system disorder;   nervous system autoimmune disorders;   nervous system immune disorders;   neurologic autoimmune disease;   neurologic autoimmune diseases
 primary_id: MESH:D020274
 xref: NCI:C99383
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autoimmune disease of the nervous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoc aldolase, fructose-bisphosphate C ISO associated with Streptococcal Infections RGD PMID:16356555 RGD:2301134 NCBI chr10:65,586,504...65,590,093
Ensembl chr10:65,586,504...65,590,126
JBrowse link
G Anxa5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism, haplotype: :
RGD PMID:19722042, PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism, haplotype: :
RGD PMID:19722042, PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein IEP protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912, PMID:23001123 RGD:11069491 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:32258229 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:32860008 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:32860008 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:32258229 PMID:32488064 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
ClinVar Annotator: match by OMIM:610329
OMIM
ClinVar
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29150899 PMID:29389947 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:9536098 PMID:15870678 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27943079 PMID:28492532 PMID:31529068 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:19525956 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24316776 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26372505 PMID:26629815 PMID:27937139 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29915444 PMID:32996714 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:28166811 PMID:28319323 PMID:28492532 PMID:28605144 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31898846 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2725645 PMID:8884268 PMID:9500334 PMID:9536098 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 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:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 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: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:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30609409 PMID:30637288 PMID:30831263 PMID:30843307 PMID:30951992 PMID:31147703 PMID:31571979 PMID:31613174 PMID:31655921 PMID:31658717 PMID:31669236 PMID:32019516 PMID:32234506 PMID:32348839 PMID:32502631, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
Anti-N-Methyl-D-Aspartate Receptor Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
autoimmune uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir21 microRNA 21 ameliorates ISO RGD PMID:31228813 RGD:41404699 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
chronic inflammatory demyelinating polyradiculoneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl28 C-C motif chemokine ligand 28 ISO RGD PMID:19050296 RGD:4890012 NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:sciatic nerve (mouse) RGD PMID:19050296 RGD:4890012 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:sural nerve RGD PMID:10408538 RGD:13204856 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Plp1 proteolipid protein 1 ISO human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210
ClinVar
OMIM
PMID:7616604 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12756141 PMID:15381704 PMID:15701560 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:23292760 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:10900011 PMID:12114495 PMID:14722919 PMID:14973063 PMID:14987375 PMID:15300849 PMID:15574766 PMID:17350623 PMID:18446368 PMID:19030229 PMID:19252526 PMID:19270817 PMID:19602254 PMID:21362373 PMID:21715564 PMID:24206762 PMID:24301059 PMID:25157968 PMID:25371412 PMID:25720320 PMID:25867206 PMID:27527340 PMID:27617348 PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment IDA RGD PMID:1710603 RGD:10046021 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:15878627 RGD:1559178 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 1:40,816,130...40,906,582
Ensembl chr 1:40,816,107...40,906,581
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr 7:138,704,124...138,707,221
Ensembl chr 7:138,704,126...138,707,221
JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:28578430 RGD:13703134 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 disease_progression
severity
ISO
IEP
RGD PMID:21056916, PMID:23707078, PMID:21157915, PMID:19660138 RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:23212569 RGD:10059360 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 IEP protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C6 complement C6 severity IAGP RGD PMID:11970970 RGD:625607 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B IEP RGD PMID:11353727 RGD:1580151 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Calca calcitonin-related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 IEP protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cav3 caveolin 3 onset IEP Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP 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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO
IEP
protein:increased expression:brain (mouse)
mRNA:increased expression:spinal cord
RGD PMID:15833367, PMID:17666800 RGD:4890027, RGD:2307114 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IEP
IMP
RGD PMID:14655765, PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:16061730 RGD:2307203 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd4 Cd4 molecule treatment IEP
IMP
protein:decreased expression:T lymphocyte: RGD PMID:9138014, PMID:3097071 RGD:10058963, RGD:10058968 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:9379015 RGD:6902906 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cd86 CD86 molecule resistance
disease_progression
ISO
IEP
protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557, PMID:20451260 RGD:4892227, RGD:4892207 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator IAGP RGD PMID:15821736 RGD:1358146 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IDA RGD PMID:21107918, PMID:7541143, PMID:10650887 RGD:6483335, RGD:6483353, RGD:6483351 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Comt catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cpb2 carboxypeptidase B2 IEP RGD PMID:22768796 RGD:7243111 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO
IEP
protein:increased expression:spinal cord RGD PMID:21679768, PMID:20162860 RGD:5686852, RGD:5686863 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsc cathepsin C IEP RGD PMID:843913 RGD:1599653 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:16053521 RGD:4891973 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
IMP
RGD PMID:16053521, PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IMP RGD PMID:21038468 RGD:5135506 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Dab2 DAB adaptor protein 2 disease_progression IEP RGD PMID:21890121 RGD:7243155 NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression IEP RGD PMID:19524108 RGD:9685491 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21565615, PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:12576552 RGD:5508383 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP mRNA:increased expression:spinal cord RGD PMID:8929896, PMID:9814819 RGD:8655647, RGD:9831448 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Ghrh growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment IDA RGD PMID:19620309 RGD:12905041 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO protein:decreased expression:white matter of spinal cord, gap junction (mouse) RGD PMID:22461072 RGD:13208593 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO
IEP
mRNA:increased expression:spinal cord: RGD PMID:11823861, PMID:15913792 RGD:9686086, RGD:9686113 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IMP
RGD PMID:17085013, PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Ifng interferon gamma disease_progression
treatment
ISO RGD PMID:15661899, PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23872438 RGD:7364993 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha IEP RGD PMID:12620647 RGD:2316323 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Il12a interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il12b interleukin 12B IEP mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il13 interleukin 13 severity ISO RGD PMID:18250480, PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il16 interleukin 16 IMP RGD PMID:17641011 RGD:5024940 NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
JBrowse link
G Il17a interleukin 17A treatment IEP
ISO
IDA
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 IMP
IEP
mRNA:increased expression:spinal cord RGD PMID:9834127, PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 IEP mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il21 interleukin 21 IDA RGD PMID:18997868 RGD:5147399 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il21r interleukin 21 receptor no_association
disease_progression
ISO RGD PMID:18546146, PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il22 interleukin 22 IEP RGD PMID:19269041 RGD:2311529 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IEP RGD PMID:19269041 RGD:2311529 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
RGD PMID:18239607, PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769, PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga4 integrin subunit alpha 4 treatment
susceptibility
IMP
IDA
rat bone marrow cells in a mouse model RGD PMID:12626659, PMID:18722022 RGD:9698418, RGD:9698436 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Jak3 Janus kinase 3 treatment IDA RGD PMID:25012120 RGD:11533939 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Lta lymphotoxin alpha IEP mRNA:increased expression:spinal cord
mRNA:increased expression:brain
RGD PMID:7593556, PMID:9184655 RGD:1625038, RGD:4143220 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:15494405 RGD:1358431 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbp myelin basic protein ISO human sequence peptide in a rat model; associated with Herpesviridae infections
CTD Direct Evidence: marker/mechanism
CTD PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732, PMID:16285900, PMID:12811845 RGD:7349334, RGD:30296670 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mdk midkine IEP RGD PMID:9814819 RGD:9831448 NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19922364 RGD:2325703 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9549496 RGD:8547909 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
protein:increased expression:multiple tissues RGD PMID:9549496, PMID:24797785, PMID:20810258, PMID:22800566 RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mog myelin oligodendrocyte glycoprotein IDA
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD 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 RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngf nerve growth factor IEP protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor severity ISO
IEP
mRNA:increased expression:central nervous system RGD PMID:16519950, PMID:8866783 RGD:5508312, RGD:5508386 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr11:31,428,377...31,430,519
Ensembl chr11:31,428,358...31,430,517
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO
IEP
RGD PMID:24941845, PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr11:31,389,514...31,392,890
Ensembl chr11:31,389,514...31,392,890
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Plp1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:21068375, PMID:24941845 RGD:40902822 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO
IEP
protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage,
RGD PMID:21667309, PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IEP
protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell
RGD PMID:21667309, PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
JBrowse link
G Qk quaking IEP RGD PMID:22740327 RGD:10045997 NCBI chr 1:50,983,647...51,050,692
Ensembl chr 1:50,828,134...51,052,340
JBrowse link
G Rangrf RAN guanine nucleotide release factor IDA RGD PMID:8557821 RGD:6771380 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G Rhoa ras homolog family member A severity IEP protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G RT1-Ba RT1 class II, locus Ba IMP
IDA
RGD PMID:18050272, PMID:9834080, PMID:16723470 RGD:5147622, RGD:5147666, RGD:5147639 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb IMP
IDA
ISO
RGD PMID:16723470, PMID:9834080, PMID:16194572 RGD:5147639, RGD:5147666, RGD:5147647 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:8676084 RGD:5490166 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:16194572 RGD:5147647 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Shh sonic hedgehog signaling molecule IEP
ISO
RGD PMID:15892298, PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IDA RGD PMID:22436018 RGD:9999395 NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
JBrowse link
G Sncb synuclein, beta IDA RGD PMID:12496452 RGD:730073 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr12:47,039,714...47,046,022
Ensembl chr12:47,039,716...47,046,022
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22066025, PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:11240014 RGD:7207888 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEP mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 IEP protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Tlr2 toll-like receptor 2 IEP protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 IEP protein:increased expression:spinal cord RGD PMID:18644848 RGD:2312575 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:11421579 RGD:12904661 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IDA RGD PMID:12196270 RGD:1580348 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor treatment ISO RGD PMID:21318047, PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A IDA
ISO
IEP
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 chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
Experimental Autoimmune Myasthenia Gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 treatment IEP RGD PMID:17997938 RGD:11049469 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G C3 complement C3 ISO
IEP
RGD PMID:17962462, PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP
RGD PMID:19232748, PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP
IMP
RGD PMID:15843529, PMID:19232748 RGD:1598501, RGD:2311364 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048
JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
Experimental Autoimmune Neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:spinal cord (rat) RGD PMID:15710454 RGD:2313042 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:sciatic nerve RGD PMID:10603033 RGD:2306914 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G App amyloid beta precursor protein treatment IDA RGD PMID:28446186 RGD:13782060 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cav1 caveolin 1 IEP protein:increased phosphorylation:sciatic nerve RGD PMID:17234162 RGD:2289125 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO protein:increased expression:sciatic nerve, macrophage, T cell RGD PMID:20500551 RGD:5688140 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd14 CD14 molecule severity IEP RGD PMID:19162137 RGD:2312712 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12864982 RGD:2307204 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40 CD40 molecule IEP RGD PMID:17188497 RGD:5491181 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand IEP RGD PMID:17188497 RGD:5491181 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd59 CD59 molecule IEP protein:increased expression:Schwann cell RGD PMID:10450801 RGD:1600494 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:18448252 RGD:4891968 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:18448252 RGD:4891968 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Dcc DCC netrin 1 receptor IEP RGD PMID:16337279 RGD:2314374 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) treatment IMP RGD PMID:11522581 RGD:11040446 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:23603807 RGD:10395381 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epo erythropoietin IEP RGD PMID:20361946 RGD:10400894 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Foxp3 forkhead box P3 IEP protein:decreased expression:sciatic nerve RGD PMID:30464413 RGD:38549576 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 disease_progression IEP mRNA,protein:increased expression:sciatic nerve: RGD PMID:21784136 RGD:9686114 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:23603807 RGD:10395381 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression IMP RGD PMID:17286627 RGD:5508466 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Il17a interleukin 17A ISO
IEP
mRNA, protein:increased expression:sciatic nerve, inguinal lymph node RGD PMID:10785455, PMID:19207263 RGD:4888513, RGD:4831923 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta treatment IEP RGD PMID:18400050 RGD:7401218 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il5 interleukin 5 treatment IDA RGD PMID:22310911 RGD:11522768 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9546322 RGD:9685357 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9546322 RGD:9685357 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:nerve root, leukocyte, Schwann cell (rat) RGD PMID:15144861 RGD:1580265 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression: RGD PMID:12916703 RGD:5688236 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression: RGD PMID:12916703 RGD:5688236 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rhoa ras homolog family member A IEP protein:increased expression:spinal ganglion, macrophage, T cell RGD PMID:17367505 RGD:1642966 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Spp1 secreted phosphoprotein 1 IDA RGD PMID:15531104 RGD:1581323 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tlr2 toll-like receptor 2 severity IEP RGD PMID:19162137 RGD:2312712 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:increased expression:multiple tissues RGD PMID:18434754 RGD:2312677 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA:increased expression:multiple tissues RGD PMID:18434754 RGD:2312677 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:18400050 RGD:7401218 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Guillain-Barre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISS OMIM:139393 MouseDO NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18343991 RGD:5685658 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO protein:increased expression:plasma (human) RGD PMID:12507779 RGD:8549645 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd86 CD86 molecule ISS OMIM:139393 MouseDO NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15623725 RGD:1600925 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Guillain-Barre syndrome, familial OMIM
ClinVar
PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
Lambert-Eaton myasthenic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:11498265 RGD:1549857 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:91,919,834...91,963,080
Ensembl chr13:91,954,138...91,962,588
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896, PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 3:164,039,731...164,055,561
Ensembl chr 3:164,039,731...164,095,878
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bdnf brain-derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl12 chemokine (C-C motif) 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 chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:brain
DNA:polymorphism:promoter
RGD PMID:9655469, PMID:12127674 RGD:6483814, RGD:6483818 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G 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 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 RGD:1358460, RGD:8551829 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr20:48,335,540...48,340,847
Ensembl chr20:48,335,540...48,340,846
JBrowse link
G Cd28 Cd28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40 CD40 molecule 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 PMID:19525955, PMID:20634952, PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd6 Cd6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:226,848,399...226,887,259
Ensembl chr 1:226,848,403...226,887,156
JBrowse link
G Cd86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:57,108,757...57,183,855
Ensembl chr11:57,108,956...57,183,270
JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:34,001,506...34,088,418
Ensembl chr 7:34,001,506...34,079,616
JBrowse link
G Cfh complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Ciita class II, major histocompatibility complex, 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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 2:115,823,541...115,836,846
Ensembl chr 2:115,823,538...115,836,846
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18946483 PMID:19525955, PMID:21653641 RGD:5491175 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Cmahp cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:42,567,472...42,640,221
Ensembl chr17:42,583,945...42,640,221
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 6:45,683,242...45,694,824
Ensembl chr 6:45,683,234...45,694,822
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295, PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17086443, PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association ISO DNA:SNP:CDS:49A>G (human)
DNA:SNPs: :rs3087243,rs11571302(human)
RGD PMID:17942509, PMID:19740340, PMID:10082437 RGD:2301975, RGD:7411672, RGD:1358538 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:17086443, PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:100,072,421...100,078,487
Ensembl chr 9:100,076,958...100,078,788
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)
RGD PMID:8879222, PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31068361, PMID:11438180 RGD:1358622 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
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:152,414,332...152,642,607
Ensembl chr  X:152,414,615...152,642,531
JBrowse link
G Gc GC, vitamin D binding protein susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)
CTD PMID:25590278, PMID:12137326, PMID:18807170, PMID:19324981, PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 no_association ISO DNA:deletion:: (human) RGD PMID:23932298, PMID:10680782 RGD:12792225, RGD:5490267 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23517930, PMID:9818947 RGD:1358738 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum
protein:increased expression:cerebrospinal fluid
RGD PMID:22031307, PMID:21677024 RGD:5684368, RGD:8549589 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23517930, PMID:21455110 RGD:8698672 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15210533 PMID:25458313, PMID:10025794 RGD:1358741 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140, PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
RGD PMID:18368064, PMID:24547735 RGD:8549631, RGD:8549632 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602, PMID:19125193 RGD:2311526 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 severity
treatment
ISO DNA:polymorphism:promoter:-572 G>C(human)
DNA:polymorphism:promoter:-174G>C(human)
RGD PMID:23202972, PMID:24155968, PMID:26285213 RGD:12791288, RGD:12792202, RGD:11079567 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G 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:25046553 PMID:25741868 PMID:32576985
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335, PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:20805994, PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kif1b kinesin family member 1B no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD PMID:18997785, PMID:20502484, PMID:18997785 RGD:12738463, RGD:12738462 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Klhl6 kelch-like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:84,745,958...84,785,315
Ensembl chr11:84,745,904...84,785,893
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Lrch1 leucine rich repeats and calponin homology domain containing 1 ISS OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr15:56,778,738...56,970,439
Ensembl chr15:56,785,162...56,970,365
JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr14:5,283,655...5,378,738
Ensembl chr14:5,283,647...5,378,726
JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G 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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human)
DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD PMID:18708297, PMID:17619138 RGD:5490259, RGD:5490263 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:SNP::m.4917A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:55,049,893...55,057,784
Ensembl chr 9:55,050,203...55,057,658
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G 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 PMID:16738668, PMID:16738668, PMID:17376543 RGD:6767558, RGD:6767565 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:22,984,792...23,179,701
Ensembl chr17:22,984,844...23,179,701
JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12402038 PMID:15912506 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prf1 perforin 1 ISO
ISS
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 PMID:19680139, PMID:20921521, PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 1:134,699,053...134,742,512
Ensembl chr 1:134,699,299...134,742,514
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:75,058,758...75,098,331
Ensembl chr 7:75,058,758...75,098,331
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*06 (human)
OMIM
CTD
PMID:21741664, PMID:21908482, PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
CTD PMID:17660530, PMID:19834503, PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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
PMID:25911099, PMID:21741664, PMID:20207784, PMID:20580995, PMID:21440682, PMID:21664963 RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G 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 2:187,218,851...187,225,000
Ensembl chr 2:187,218,851...187,225,002
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc11a1 solute carrier family 11 member 1 no_association ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD PMID:16597321, PMID:18973068, PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:11721059, PMID:15885319 RGD:1581329, RGD:1581472 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:160,908,779...160,913,281
Ensembl chr 3:160,908,769...160,912,507
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
ISO DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human)
RGD PMID:7759306, PMID:7797617, PMID:7928442 RGD:6482279, RGD:6482281, RGD:6482280 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor disease_progression
no_association
ISO
ISS
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNP:promoter:-308G>A (human)
MouseDO PMID:8964914, PMID:9270614, PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
G Tnfrsf1a TNF 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
PMID:19525953 PMID:22801493 PMID:24033266 PMID:24076602 PMID:25741868, PMID:22801493 RGD:8661741 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:9,761,363...9,765,461
Ensembl chr 9:9,761,536...9,765,186
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:14,003,340...14,022,955
Ensembl chr 3:14,003,340...14,022,672
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D 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 PMID:25853421, PMID:15118671, PMID:27049563, PMID:25685788, PMID:26540116, PMID:21664963 RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:122,855,036...122,873,696
Ensembl chr 2:122,865,100...122,869,616
JBrowse link
myasthenia gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:17986328 RGD:5509842 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15169653, PMID:23043710 RGD:8662430 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD PMID:22981737 PMID:27119269, PMID:22218276, PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)
RGD PMID:19561379, PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)
DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)
RGD PMID:19561379, PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset
ISO DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human)
DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)
RGD PMID:21924912, PMID:15003812 RGD:7365051, RGD:7365079 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD PMID:18509235 PMID:24070676, PMID:16087714, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Cd59 CD59 molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G RT1-Bb RT1 class II, locus Bb 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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
Opticospinal Multiple Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:17468440 RGD:8698645 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Grn granulin precursor susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human)
RGD PMID:21613335, PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis, UMLS MESH term: Multiple Sclerosis, Chronic Progressive ClinVar NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:16401742 PMID:21880868 PMID:25741868 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis, UMLS MESH term: Multiple Sclerosis, Relapsing-Remitting ClinVar NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr 7:3,216,392...3,224,202
Ensembl chr 7:3,216,497...3,224,201
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia
CTD
ClinVar
PMID:9536098 PMID:9927632 PMID:11702206 PMID:17576681 PMID:18175347 PMID:20631190 PMID:24108130 PMID:25741868 PMID:27391121 PMID:27435318 PMID:28174298 PMID:28492532 PMID:30078784 PMID:30182260 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,946,596...130,106,382
Ensembl chr 8:130,009,573...130,106,382
JBrowse link
sympathetic ophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*0404(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:11222331, PMID:9062965 RGD:7365091, RGD:7365100 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:15742444 RGD:1581162 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A severity
susceptibility
ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD PMID:22993227, PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:20331879, PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 1:140,845,478...140,860,882
Ensembl chr 1:140,845,465...140,860,894
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
RGD PMID:15998676, PMID:17502363, PMID:18512818, PMID:18512818, PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:23946333, PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:20064872, PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762, PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203, PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:28492532 PMID:29473047 NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
JBrowse link
Vogt-Koyanagi-Harada disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:decreased expression:T cell RGD PMID:21297967 RGD:6482200 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0301 RGD PMID:11835809 RGD:8547565 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human)
DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD PMID:17605936, PMID:19176112 RGD:7421525, RGD:7421581 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DRB1*0405(human)
DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human)
DNA:polymorphisms (human)
RGD PMID:15603876, PMID:9548078, PMID:20216938, PMID:10527396 RGD:5147653, RGD:7365099, RGD:7365067, RGD:5147857 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:20438790 RGD:8661713 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tnf tumor necrosis factor ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        autoimmune disease of the nervous system 449
          Aicardi-Goutieres syndrome + 11
          Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
          Experimental Nervous System Autoimmune Disease + 268
          Stiff-Person syndrome 6
          Vogt-Koyanagi-Harada disease 7
          autoimmune disease of central nervous system + 363
          autoimmune disease of eyes, ear, nose and throat + 2
          autoimmune disease of peripheral nervous system + 61
          central nervous system vasculitis + 25
          limbic encephalitis 0
          polyradiculoneuropathy + 19
          postinfectious encephalitis 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Immune & Inflammatory Diseases 3697
        immune system disease 3059
          primary immunodeficiency disease 2514
            autoimmune disease 1770
              autoimmune disease of the nervous system 449
                Aicardi-Goutieres syndrome + 11
                Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
                Experimental Nervous System Autoimmune Disease + 268
                Stiff-Person syndrome 6
                Vogt-Koyanagi-Harada disease 7
                autoimmune disease of central nervous system + 363
                autoimmune disease of eyes, ear, nose and throat + 2
                autoimmune disease of peripheral nervous system + 61
                central nervous system vasculitis + 25
                limbic encephalitis 0
                polyradiculoneuropathy + 19
                postinfectious encephalitis 0
paths to the root